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Dear NNPDF Families and Friends,
Today, as we all take time to reflect on the past year, the NNPDF community has quite a number of uplifting and positive milestones upon which to reflect for 2014. Unfortunately, we again have had heartbreaking losses of loved ones to Niemann-Pick Disease whom we all hold so close to our hearts. Despite these soul crushing losses, the NPD community has made considerable progress in research and advancement towards therapies with the start of patient clinical trials for both Niemann-Pick type C and ASMD (NPD Type B). There have also been many personal triumphs shared within the community and the foundation continually to strives towards offering and building upon our stellar family support programs and continued financial commitments towards research.
To cap off 2014, we have created a “Year-end” e-Newsletter to share with the NNPDF community.
It includes:
- Thanks for your ongoing financial support in 2014 ~ “Year-end” donation reminders!
- In Memoriam ~ Remembering Those We Lost in 2014
- 2014 e-Newsletter Recap
Click here to view the 2014 End of Year e-Newsletter!
We have been fortunate to be a part of your lives throughout the year and are looking forward to the HOPE which 2015 will bring.
Have a warm and love filled New Years and we'll see you in 2015!
[Dec 31st, 2014 ~ blg]
The National Niemann-Pick Disease Foundation would like to wish you all season's greetings!
May lovely, happy times decorate your holiday season, may warm, special memories brighten your New Year and may the wonder of the season be with you all.
~ NNPDF Office Staff & Members of the Board of Directors
[Dec 23rd, 2014 ~ blg]
On the Twelfth "Day and Way" of Caring for the Caregiver
~ Give Yourself Credit for All the Good You Do ~
The holiday season always helps to bring out the best in people. It is a time for giving back, when we have an opportunity to show our appreciation to those we love with a thoughtful gift and words of encouragement and appreciation. Thought gifts and kind words are always well received ~ so why don’t we all take the time to express our thanks and gratitude more often?
As a caregiver, you may not feel deserving of praise, but what you do every day is truly remarkable and so self-less. Without ceremony and without praise you continue on… day in and day out …not just once a year. You choose to enrich the lives of, not only the one you are caring for, but extend your kind spirit and graciousness to all those in your life. Even if there are thankless days in the coming year, it is helpful to learn the best ways to actually see the value in your efforts and to encourage yourself with a pat-on-the-back now and then!
Below are some additional links on how to encourage yourself, or to be supportive of a caregiver in your life, and how best to give them a boost of self-esteem, as well as, the energy to Persevere !
- Encouraging Caregivers - Encouraging Caregivers Blog
- Family Caregiver Alliance - Additional resources
We would like to thank all the members in our NPD patient and family community for your tireless efforts in 2014. Without your generosity, patience, good humor and friendship we could never have found ourselves with so much HOPE in our HEARTS for 2015!
You encourage and inspire us with everything you do and we wish you the very best for you and your family as count down the remaining days in 2014 and welcome in 2015!
We WILL Persevere in our Quest for a Cure !
~ The Central Office Staff of the NNPDF!
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For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 23rd, 2014 ~ blg]
On the Eleventh "Day and Way" of Caring for the Caregiver
~Know Your Limitations~
As we worked on our countdown toward the Holiday’s this month, we touched upon the idea of “Knowing Your Limitations” a few times, especially in offering you ways to take care of yourself as a caregiver. By placing a focus towards yourself ~ physically , emotionally & mentally ~ you are ensuring that you engage in the cardinal rule of caregiving:
~ Take care of yourself so you CAN take care of your loved one. ~
“Knowing Your Limitations” is a key element of caring for a loved one. IF you fail to recognize and follow the points we have highlighted previously, IF you overload yourself each day you WILL run the risk of Caregiver Burnout Syndrome .
By “Knowing Your Limitations” not only can you better plan your days, but it will allow you to spend more of your time enjoying the time with the one you are caring for.
Here are some tips for you to identify and stay true to your limitations:
- Inform and Educate yourself about Niemann-Pick Disease (NPD) : Knowing all you can about NPD can help you to anticipate some of the struggles ahead, allowing you better leverage to meet challenges head on. Talk to your doctor, use www.nnpdf.ca as a resource if needed, along with the numerous contacts of NPD researchers and doctors available. Be curious and be outspoken with your questions and concerns.
- Trial and Error: All the information in the world cannot prepare you for everything. Experience is required to know what is best and that takes time and you may well incur some missteps along the way. You will slip from time to time, but remember that everything is a learning experience and your failings will become a lesson learned to be applied in the future. Each NPD patient is unique and what works for some may not necessarily work for your loved one.
- Test the Waters: Find what works best for you and your family. Through trial and error you will be able to build a base schedule for the positive daily routines and timelines. If possible try to create some wiggle room for potential unplanned events to help reduce stress if they should arise.
- Reach Out: The NNPDF has many social resources for you to connect with if you should have questions along the way. Aside from researchers and doctors, you also have access to the NPD family membership community who are eager and willing to share, not only every day advice for caregiving, but can act as additional support and sounding boards for all.
- It “IS” Okay to Say NO!: For so many of us, saying, “NO”, to a request is tough. It is often difficult to say no to family or friends, but there are times when it is a necessity. An absolute requirement to keeping yourself whole, especially when the care of yourself or a loved one is involved. Others will understand if you indicate that your plate is just too full at this time caring for your loved one ~ so don't be so hard on yourself if you have to say no.
Check back in tomorrow, as we highlight on the final day of “12 Days and 12 WAYS” the “NNPDF gave to you” ways to give yourself credit for all the good you do !
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 22nd, 2014 ~ blg]
On the Tenth "Day and Way" of Caring for the Caregiver
Regularly attend (or connect on-line) with support groups and/or education workshops.
What can you learn by connecting with other NPD Families and Patients?
Your first thought might be that you can't learn much from someone who isn't a medical professional. In fact, that is far from true.
Connecting with other NPD families and patients can offer a wealth of information. Others may be able to offer suggestions and tips on care for your loved one. They may know of connections to retailers or online resources for clothing needs, equipment, exercise and therapies and family support. They might be able to recommend a specialist in another city when your doctor just isn't helpful enough. They may simply offer moral support, much needed for those with difficult medical challenges.
Treatment involves more than routine medical diagnosis, hospitalized care or even the prescription of drugs. When confronted by illness, family caregivers and patients seek professional help and advice from their doctors, and also rely on support from family members, peers and fellow patients. Patients' with genetic diseases are no exception to this reality. They too face complexities and complications that require a network of professional support staff, family, and friends.
To this end, the National Niemann-Pick Disease Foundation offers several avenues of Social Networking tools available to our NPD membership. These networking tools offer a variety of services and resources to assist our families, caregivers and patients as they work to cope and adapt to the lifestyle that is often dictated by the complications of Niemann-Pick Disease.
The access to support groups, forums and message boards is one of the reasons the Internet is so valuable for patients, their families and caregivers who want more information about their particular disease and how best to care for their loved one.
All three, and other forms of social networking , are web applications that allow users to interact with each other, ask questions, provide facts or opinions, and share emotions. Unlike in-person support groups you might find in your community, often most online groups allow users to remain anonymous.
Treatment involves more than routine medical diagnosis, hospitalized care or even the prescription of drugs. When confronted by illness, patients seek professional help and advice from their doctors, and also rely on support from family members, peers and fellow patients. Patients' with genetic diseases are no exception to this reality. They too face complexities and complications that require a network of professional support staff, family, and friends.
The NNPDF has the following resources and services available for our family membership:
NNPDF Listservs (Email Groups)
NNPDF offers four email lists (listservs) for use by Niemann-Pick families, friends, caregivers, and other interested parties. (A fifth listserv, the "Angels" group, is run by families and caregivers.)
These listservs offer a place where you can share your thoughts, ideas, and challenges with others who have faced, or who are facing, Niemann-Pick Disease. Ask questions, raise concerns, express your feelings, offer support to others, or simply listen; the lists are made available to help meet your needs during this journey.
Lists run by NNPDF are subject to Guidelines on the use of this service. By joining any list, you agree to abide by the terms of the Guidelines.
- Type A List ~ For families, friends and others interested in Niemann-Pick Type A.
Type A Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Type B List ~ For families, friends and others interested in Niemann-Pick Type B.
Type B Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Type C List ~ For families, friends and others interested in Niemann-Pick Type C.
Type C Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Sibling List ~ For children and young adults who have a brother or sister with Niemann-Pick Disease.
Sibling Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Angels List ~ For those who have lost a loved one to Niemann-Pick Disease.
(This list is not run by NNPDF. It is run by families and caregivers).Angels Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
NNPDF Face-Book Support Pages:
Niemann-Pick Disease FB Awareness Page link : https://www.facebook.com/groups/nnpdf/
Niemann-Pick Disease Type B Family Support Page link: https://www.facebook.com/groups/315975725198135/
NNPDF Siblings (under age 18 years) FB Support Page link: https://www.facebook.com/groups/NNPDFSibs/
Additional Resources for our NPD Family Membership :
NNPDF Twitter: https://twitter.com/nnpdf
For those families who have lost a loved on to NPD:
My Compassionate Friends: http://www.compassionatefriends.org/home.aspx
(Providing Grief Support for those who have lost a child.)
Patient Empowerment: http://empoweredpatientcoalition.org/
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Check back in tomorrow, as we highlight on the 11th day of “12 Days and 12 WAYS” the “NNPDF gave to you” suggestions on knowing and realizing your limitations.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox.
[Dec 19th, 2014 ~ blg]
On the Ninth "Day and Way" of Caring for the Caregiver
~ Give yourself a special treat at least once a month! ~In support of all our Caregivers we wanted to offer you some fun and easy ways to treat yourself to a break that is neither expensive nor time consuming. You can have the opportunity to spoil yourself at least once a month ~ and more often if needed! You may not get a whole day at the spa, but you can learn to take advantage of those brief but windows of opportunity and down-time when they “pop-up”. It is easy to find activities outside of the home to peak your interest and recharge your energy ~ here are a few suggestions:
Time to indulge
- Treat yourself to a scrumptious ice-cream cone.
- Hit the mall ~ purchase a new top or outfit to lift your spirits.
- Enjoy a night out with friends ~ or ~ schedule a morning coffee gathering with other “Moms”.
- Purchase yourself a beautiful flowering plant to brighten up a room.
- Ask for a big bear hug or kiss from a loved one. ( This request need not be confined to only once a month! )
If you have 15 minutes...
- Make yourself a cup of tea and catch a quick TV show or indulge in a good book.
- Put on your favorite CD, dim the lights, and pour yourself a glass of wine.
If you have 30 minutes...
- Hole up in your bedroom with a cozy throw and a bowl of ice cream to watch the most mind-numbing show you can find.
- Run yourself a steamy, hot, bubble-bath ~ light some candles and soak away!
- Call that old friend you recently found on Facebook and talk for 30 minutes about the old days. Recalling fond memories can fill your heart.
If you have an hour...
- Go to the gym. Spend 20 minutes walking on the treadmill and 40 reading magazines in the steam room.
- Sneak to the park for a mid-day picnic.
- Walk to your local downtown and window shop!
- Walk to your local library and lose yourself in the stacks of books.
- Better yet ~ hop on your bike to hit the local shops and community activities.
- Take a car ride, enjoy a good CD, along pretty roads near your home.
- Stop somewhere scenic, soak up the view and just sit for a while before heading back.
- Find a partner and play a board game or quick game of cards.
If you have three hours...
- Bike to a park with a friend; pass right by the swings and sandbox and find a grassy spot for a picnic lunch. Swinging on the swings is extra credit and fun to boot!
- Find the coziest corner at the coffee shop, order a latte, and read half a novel without interruption.
- Go to a movie and order the large popcorn.
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Check back in tomorrow, as we highlight on the 9th day of “12 Days and 12 WAYS” the “NNPDF gave to you” suggestions on knowing and realizing your limitations.
For more resources on Caring for a Caregiver, visit the [Caregiver Action Network] for [10 Tips for Family Caregivers] as well as [Family Caregiver Toolbox].
[Dec 18th, 2014 ~ blg]
On the Eighth "Day and Way" of Caring for the Caregiver
~ Learn relaxation techniques to help alleviate stress! ~Stress is necessary for life. You need stress for creativity, learning, and your very survival. Stress is only harmful when it becomes overwhelming and interrupts the healthy state of equilibrium that your nervous system needs to remain in balance. Unfortunately, overwhelming stress has become an increasingly common characteristic of contemporary life ~ especially when one is faced with the ongoing care of a loved one.
The NNPDF Central Offices have identified two useful web site resource programs which will assist the user in identifying available and easy options for caregivers that will help you to find the right relaxation techniques for stress relief.
- HelpGuide.org Finding the correct relaxation exercises that work for you.
- Stress Management from MindTools This tool introduces three useful physical relaxation techniques that can help you reduce muscle tension and manage the effects of the “fight-or-flight” response on your body. This is particularly important if you need to think clearly and perform precisely when you are under pressure.
- There are also some tried and true activities that are “easy breezy” and many will find just as helpful:
- Light a beautifully scented candle.
- Back away from noise distractions. Turn off the TV, video games, cell phones, and text messages ~ turn on music which evokes fond memories or gives you a calm and serene sensation.
- Take a bubble bath and read a chapter of a good book.
- Enjoy the sunshine, let it shine into your home and fill your room with warmth.
- Bake something special with your loved ones ~ warm cookies or bread sooth the soul.
- Read a book to your loved one while enjoying a “lovely spot of tea”!
- Insert your own stress relief activity here…
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Check back in tomorrow, as we highlight on the 9th day of “12 Days and 12 WAYS” the “NNPDF gave to you” suggestions on finding activities outside of the home to peak your interest and recharge your energy.
For more resources on Caring for a Caregiver, visit the [Caregiver Action Network] for [10 Tips for Family Caregivers] as well as [Family Caregiver Toolbox].
[Dec 17th, 2014 ~ blg]
Dear NNPDF Families and Friends,
The NNPDF December 2014 e-Newsletter is available! Highlights include the following ways you can shop before the holidays online that will benefit the NNPDF:
- iGive
- Goodshop
- Amazon Smile
- NNPDF Bravelets and Beads
- NNPDF Persevere Wristbands
[Dec 16th, 2014 ~ blg]
On the Seventh "Day and Way" of Caring for the Caregiver
~ Explore Community Resources and Connect Yourself to Them ~There are many programs available to family caregivers, both locally and online. These programs not only provide information about caregiving, such as available services and how to gain access to them, but also provide information on counseling resources and access to support groups in your area.
The NNPDF Central Offices have identified two useful web site resource programs which assists the user in tracking down and identifying available services for caregivers, not only online but within your own community. Through them, you can connect with other individuals in your community who clearly understand your situation and are eager to assist in giving you a helping hand.
- Family Caregiver Alliance (FCA) – National Center on Caregiving ~ Programs to support family caregivers, education and training opportunities, respite programs, and useful website connections for services in your state.
- Caregiver Action Network (Previously known as the National Family Caregivers Association.) The Caregiver Action Network (CAN) serves a broad spectrum of family caregivers ranging from the parents of children with special needs, to the families and friends of wounded soldiers; from a young couple dealing with a diagnosis of MS, to adult children caring for parents with Alzheimer’s disease.
- Valuable Resources
- Advice from Caregiver Voices
- Peer Support
- Caregiving Information
- Advocate for Caregivers
- Family Voices - Family Voices provide family resources and support to assist families in making informed decisions, advocate for improved public and private policies, build partnerships among families and professionals, and serve as a trusted resource on health care.
Check back in tomorrow, as we highlight on the 8th day of “12 Days and 12 WAYS” the “NNPDF gave to you” ways to relax.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 16th, 2014 ~ blg]
On the Sixth "Day and Way" of Caring for the Caregiver
~ Take a Break Every Day ~Previous posts have addressed the importance of taking care of yourself as a caregiver, but it is certainly easier said than done, especially when your entire day is focused on caring for the needs of those you hold dear.
One of the easiest things you can do when planning your day is to find ways to incorporate mini-breaks to focus on yourself. They don't have to be long or involved and can be spread throughout the day to ensure that you are not only getting enough time for yourself, but that these breaks are not interrupting your required daily routines.
Here are some suggestions as to how you can work both the time and the break into everyday life without giving up or imposing upon your important care routines:
- Step Outside : Have 10 minutes? Consider taking a break by stepping out into your own backyard or porch, even for 10 minutes, it can do wonders to help you recharge. If you have a trusted family member or friend who can offer you some respite care, take them up on it. Often getting out of the house, even to run errands on your own, can do wonders. Give yourself the gift of “ME TIME”. Focus on yourself periodically throughout the day. You deserve it!
- Take a Call or a Visitor : If you find yourself in a position where you can take a quick call, or have a guest over, take the opportunity. The perspective and input from other people often help us to lift our spirits and allow us to view circumstances in a better or different light.
- Work in Your Passions : Love to bake? Paint? Play an instrument? Love to read? Work activities into your day that you can do with the one you're caring for that will brighten both of your days .
- Start Off/End Your Day Right : Find ways of both starting and capping off your days in a positive and upbeat way! Sleeping well at night will ensure ease of waking up in the morning to better greet the next day ahead. (See Day 4 of NNPDF Caring for the Caregiver for some tips on better sleeping routines!)
We can’t reiterate enough the importance of working some time “ME TIME” into your daily routine ~ it isn’t selfish nor self-serving ~ but ~ a necessity to keep YOU (the caregiver) happy and healthy! The more you care for yourself, the better you can care for those you love.
For more resources on this subject:
- 10 Tips for Family Caregivers: Tips for Taking a Break - Article from Caregiving.com
Check back in tomorrow, as we highlight on the 7th day of “12 Days and 12 WAYS” the “NNPDF gave to you” the ways to explore your community resources.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 15th, 2014 ~ blg]
On the Fifth "Day and Way" of Caring for the Caregiver
~ Seeking Professional Help if Needed ~
Thus far, the NNPDF has offered you “four days and four ways” to better your physical & mental well-being as a caregiver, but there are times when the stress associated with caring for an ill loved one simply becomes overwhelming.
If you find yourself in this situation, it is important to know that you are not alone. So often, caregivers find that they are simply coping from day-to-day, too afraid to seek help or downplaying their very real need for assistance and outside help. First and foremost, know that there is no shame in asking for and receiving professional help.But where do you begin? What resources are available? With any other hard decision, the enormity of taking that first step can be further delayed when you have no idea where or how to take that first step.
Mental Health America is this country’s leading nonprofit mental health advocate organization dedicated to promoting mental health through advocacy, education, research and service throughout the United States.
If you are outside the States, GoodTherapy.Org is an international associate of counselors, therapists and psychologists. They have over 3,600 therapists in the USA as well as internationally.
Please know that you may also reach out to the NNPDF Central Office for referral assistance as well.
Check back in tomorrow as we show how on the 6th day of 12 DAYS, 12 Ways the NNPDF gave to you the resources to take some time to yourself, while maintaining every day routines.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers , as well as, a Family Caregiver Toolbox .
[Dec 14th, 2014 ~ blg]
On the Fourth "Day and Way" of Caring for the Caregiver
~ Getting Adequate Rest ~Many individuals have issues with sleep complicated by all we do in a day, the fast pace of our lifestyles, our never-ending “to do” lists and often ever-growing pressure at work and family responsibilities to unexpected challenges and expectations that seem to grow day-by-day. For Caregivers these lists are often multiplied by layering along with daily duties the responsibilities of caring for their loved one who is ill. Some nights it's a wonder if one can get any sleep at all.
Although you might not be able to control all of the factors that interfere with your sleep, you can adopt habits that encourage better sleep.
Mayo Clinic, a trusted friend of the NNPDF, published an article with 7 steps and suggestions for good sleeping habits which we hope will assist you in improving your ability get more rest.
Sleep Tips: 7 Steps to Better Sleep
Article by the Mayo Clinic Staff----------------------------------------------
Quick Tips:
- Stick to a sleep schedule
- Pay attention to what you eat and drink
- Create a bedtime ritual
- Get comfortable
- Limit daytime naps
- Include physical activity in your daily routine
- Manage stress
~ Know when to contact your doctor
Check back in tomorrow as we show how on the 5th day of 12 Days, 12 WAYS the NNPDF gave to you the resources to get professional help if you feel overwhelmed or lack a proper support system.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 13th, 2014 ~nmh]
On the Third "Day and Way" of Caring for the Caregiver
~ Give Yourself Permission to Have a Good Cry~
No matter what we do to try and manage our time and our stress levels, there is one great stress releaser which carries with it a taboo and is often considered a weakness ~ allowing one to have a good cry. Today, our “Caring for the Caregiver ~ 12 DAYS and 12 WAYS” will focus on why it's important to give yourself permission to have this emotional release and let the tears flow.
To some, the idea of crying is perceived as a very daunting thought, for others shedding tears carries a stigma, for both men and women, that it somehow represents a weakness. This is simply not true. Often a good cry assists you both physically and emotionally. It reduces tension and can actually be linked, as odd as it sounds, to comforting yourself.
Highlighted below are some additional benefits that the emotional release of crying offers:
Stress Release : Crying is thought to help reduce stress, which can have a damaging effect on our health and has been linked to a number of health problems including heart disease, high blood pressure, type-2 diabetes and obesity. According to a Minnesota study, crying can help to wash chemicals linked to stress out of our body, one of the reasons why we feel much better after a good cry.
Dealing with Sorrow : Deep crying is generally felt to be good for you in that it exposes and expresses deep emotions, which in turn means they can then be dealt with.
Dealing with Your Emotions : Some depression has been linked with suppression of emotions, while crying forces you to face and work them out.
Crying Lifts Your Mood : As anyone who has ever had a good cry can tell you, while they aren't 100% again after this emotional release, they do feel better. This goes back to releasing tension, as well as, getting time to express the emotions that you've been suppressing.
Holding in tears and bottling up your emotions can indeed have negative consequences. You can’t predict how or when these emotions may come back to the surface? It is often better to take some time to allow yourself a good cry when needed so you can control the circumstances under which the tears flow.
You can choose to cry on your own, or with someone else, whose very presence is a comfort to you. We all know of the common phrase, a shoulder to cry on, when offered accept it lovingly.
This is not only for Caregivers, but anyone who gets frustrated, is involved in a stressful situation or is grieving a loss. Even years after a sorrowful or emotional event, please take the time and allow yourself permission to give way to your feelings.
Here are some additional links to articles you may find helpful:
- Why Crying Shouldn't Be Taboo Redbook Article
- Men Don't Cry, But Should 2KnowMyself Article
- Why Women Cry (and Should!) - Women's Health Article
- Benefits of Crying - New York Times Article
Check back in again over the weekend, as we highlight on the 4th day of “12 DAYS and 12 Ways” the “NNPDF gave to you” the ability to get proper rest every night.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 12th, 2014 ~blg]
On the Second "Day and Way" of Caring for the Caregiver
~ Don't Overload Your Daily "To Do" List - Be Realistic ~
Every day we set daily goals for ourselves to keep up with this busy and ever evolving world. It's not only the goals we set for ourselves, but the expectations from others as well, that define how we spend the hours given to us in a day.
For someone whose entire day revolves around caregiving though, this can cause a lot of stress because expectations they place on themselves and outside sources are higher.
We would like to offer you a “quick tip” to work into the start of every morning to help you to put your day into a better, more positive perspective:
"I will be realistic with my goals every day, setting them only to the benefit of the one
I'm caring for as well as for myself."What about external factors? Work deadlines, sudden and unavoidable circumstances?
These will always be a factor of life, but the better way to look at this question is that if you are less stressed when these circumstances arise, then you can better approach them when they come up. The true goal here is to set reasonable short term goals, a routine you are comfortable with so that you can find wiggle room for the things you can't control.
Rebecca Spencer-White and her son Johnathan (NPC) at the 2014 NNPDF Family Conference during the
Childcare Activity Room, where the theme was Super Heroes!
You don't have to have super powers and a cape to have earned Super status. Every day, in itself, is an accomplishment to be celebrated when time is as precious as it is to our NPD Community. You are a hero simply for doing what you do and maintaining a smile for those you love. It's something to be proud of and celebrated. Never let your shine diminish in your own eyes, when it's blinding the rest of us.
Here are some things that can help you manage your day:
- Keep a calendar: Not just any calendar, but one that fits your personality. Something that will make you smile when you go to check dates or add things to it. Remember to write in some time for yourself each day, whether it's a consistent time every day to yourself, or spending time with close friends.
- Plan Ahead: School, Church, & Community Event calendars are always available. Look at the things that need to be done at home, and then plan activities around that. Looking at things in advance can show you the possibilities for the upcoming month and give you outside activities to look forward to with family and friends.
- Taking Bites: Large goals are sometimes unavoidable. School, work and holidays can consume a large amount of time. So try taking these large projects/goals and splitting them into smaller increments. You will feel less stressed while doing the activity and it will leave time in between to unwind with your family and friends.
- Don't Stress Over the Things You Can't Control: This is a big one, because we've all been in that moment. It's very easy as a theory, but when you find yourself in that moment it's hard to let go of the anxiety of uncertainty. While it is difficult, it is not impossible. It might help you to talk about it with a significant other, a family member, or a close friend to gain an outsider perspective. When we stress, we tend to have tunnel vision, making it harder to see the issue from another light. As a caregiver, we also tend to internalize things so as not to burden anyone with our issues. You'll find though, that people who care about you are willing to listen.
- Ask for Help: We all have heard of, or been witness to "SuperMom/Dad". The parents who somehow come out on top at the end of the day with a million chores, projects, activities, errands completed and with their hair as perfect as it was that morning. While we cannot help you with the hair, we can let you know the secret of all these super parents. They get help from friends and family.
Planning outside activities in tandem with friends and family sometimes can be the small way you increase your time in a day. Your friend's child goes to the same school as your kids and has a minivan that seats 6? Your sister is going to the grocery store and you happen to be out of milk and eggs? Your mom says if you don't let her babysit her grandkids more often she's going to stalk you on Facebook with embarrassing photos from childhood?
People are all around you, every day, meeting their own daily goals and needs who may be very willing to help take some things off your plate along the way.- Remember - You are Super No Matter What You Accomplish: Think back to when you were a child and how you felt about your parents, grandparents or someone in your life who did so many good things for you without wanting anything in return. How grateful you felt to have them in your life. Have you captured the feeling? Okay, now imagine all those wonderful things, then add on all the things you do on a daily basis as a Caregiver. Got it? That feeling of awed silence? Okay.
This is now YOU. To the one you are giving care to, your kids, your spouse, your friends, family, neighbors and community. Especially in the eyes of the NPD Community.
We hope one, or all of these tips are helpful to you. For more time management tips, here are some additional links:
- Balancing Work and Caregiving - Article
- Time Management Strategies for Caregivers - Article
- Caregiver Stress: Tips for Taking Care of Yourself - Mayo Clinic Article
For more resources on Caring for a Caregiver , visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
Stay tuned for day 3 of our 12 Days ~ 12 Ways to care for a Caregiver: Give Yourself Permission to Have a Good Cry.
[Dec 11th, 2014 ~ blg]
ALERT!
Actelion US ~ Zavesca (miglustat) Patient Co-pay Program ~
Program Changes Effective January 1st, 2015 ~
SUSPENDED!
After a number of our NNPDF family membership received a notification from Actelion that their sponsored Patient Co-pay Program for Zavesca would be changed to cover ONLY adult patients who are 18 years of age or older, the NNPDF reached out to representatives at Actelion US to discuss the detrimental impact that this policy change would have on the NPC patient population in the United States currently being prescribed Zavesca (many of whom are children and have been prescribed Zavesca for years.)
After further discussions between the NNPDF and Actelion US, we have been advised by Actelion US that implementation of this program is going to be SUSPENDED at this time.
Actelion US has indicated that in making this program change ~ they did not fully understand the catastrophic impact that this change would have on the NPC patient community. In making this decision it was noted that Actelion US understands the significant need to ensure that there will NOT be a disruption of this program which ultimately leads to the care and well-being for our NPC patients in the United States.
Further, the NNPDF has been advised that an official notification from Actelion US will be mailed to the families whose children are currently prescribed Zavesca and who had originally received documentation advising them of the changes in the Zavesca Patient Co-pay Program. This document will advise of the suspension of this program. In addition, Actelion US has indicated that they will advise the support team at Accredo Specialty Pharmacy as to the suspension of this program to guarantee that there will NOT be a disruption of the Actelion US ~ patient Co-pay Program on January 1st, 2015 for any patient (adult or child) being prescribed Zavesca.
The Actelion US decision to suspend the implementation of this change is in line with their corporate philosophy to strive to treat more patients with ground-breaking therapies, a mission which both inspires and motivates them as a corporation.
The NNPDF is thankful that our family membership reached out to us for support in this matter and that we were able to inform Actelion US the serious necessity that this program continue without disruption. Actelion US will continue to be in contact with the NNPDF to keep us appraised of any program or corporate changes which may impact our patient membership in the future.
If you should have any questions pertaining to this matter ~ and/or ~ you run into problems with coverage of this medication in the New Year ~ please feel free to contact the NNPDF Central Offices.
Kind regards,
Nadine Hill
Executive Director
National Niemann-Pick Disease Foundation
Dear NNPDF Friends and Family,
December brings holiday excitement, a magical time of the year for children and adults to get caught up in the hustle and bustle of wrapped gifts, family gatherings, good food and the wonder and hope that a new year will bring into their lives.
For our Niemann-Pick Disease families though, the holiday season can be both difficult and overwhelming. The disease slowly chipping away at our loved ones doesn't take a holiday vacation and the unending grief of having lost a loved one to NPD becomes amplified with the passage of another year.Beginning today, Wednesday, December 10th, and counting down the next ~ 12 DAYS ~ towards the holidays, we will be highlighting ~ 12 WAYS ~ to Care for a Caregiver this holiday season. These 12 WAYS were specifically identified as ways to reduce stress during the upcoming hectic holiday season and assist the Caregiver in taking time for yourself in 2015!
We also want to ask those individuals who know of a Caregiver in their lives, to take the time to reach out in thoughtful and loving support this holiday season. In the upcoming “12 DAYS & 12 WAYS” countdown, we will also be offering suggestions on how best you can offer a helping hand to those important and selfless Caregivers in your lives.
On the First "Day and Way" of Caring for the Caregiver
~ Take Care of Yourself Physically ~
Amy Bianchi and her daughter Amanda Bane (NPC)
during the NNPDF 2014 San Francisco, CA Family ConferenceWhen it comes to caregiving, it is very easy ignore your physical needs in favor of your devotion to caring for a loved one. But your physical health can actually help to improve not only your mental health, but can help to de-stress daily.
Exercise promotes better sleep, reduces tension and depression, and increases energy and alertness. If finding time for exercise is a problem, incorporate it into your daily activity. Perhaps the care recipient can walk or do stretching exercise with you. If necessary, do frequent short exercises instead of those that require large blocks of time. Most importantly ~ find activities you enjoy.
Walking, one of the best and easiest exercises, is a great way to get started. Besides its physical benefits, walking helps to reduce psychological tension. Walking 20 minutes a day, three times a week, is very beneficial. If you can't get away for that long, try to walk for as long as you can on however many days you can.
Work walking into your life.
- Walk around the mall, to the store or a nearby park.
- Walk around the block with a friend.
- Walk a note to a co-worker across the office instead of e-mailing them.
- Take the stairs instead of the elevator.
When tension spikes, it can be tempting to put yourself last but prioritizing healthy eating, physical activity, relationships, and sleep is necessary if you want to avoid making your stress worse.
Check back in tomorrow as we show how on the second day of 12 Days, 12 WAYS the NNPDF gave to you the ability to not overload your daily "to do" list by being realistic with your goals.
For more resources on Caring for a Caregiver , visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 10th, 2014 ~ blg]
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Update from Genzyme on
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The CCNNPDF Central Offices have been notified that Genzyme, a Sanofi Company, has released an official press announcement with details of the pediatric Phase 1 / 2 clinical trial & the adult Phase 2/3 of recombinant human acid sphingomyelinase (rhASM).
Visit the Enzyme Replacement Therpy web page to view the press release
This is truly an exciting time for our Niemann-Pick Disease Type A & B (ASMD) families and community and the NNPDF looks forward to working with all involved in this matter as we work to ~ PERSEVERE in our Quest for a Cure!
[Dec 9th, 2014 ~ blg]
Genzyme's Expression of Hope III
Submission Deadline: Friday ~ 12/05/2014
The NNPDF would like to remind the NPD community that Genzyme's Expression of Hope III (EOH) program is still open for submissions.
It is EASY to take part ~ sharing your artwork through this program is an excellent way to help raise AWARENESS into NPD ~ as the artwork will be travelling around the WORLD as a gallery!
Follow this link to learn more details! DEADLINE: Friday ~ 12/05/14
Expression of Hope 2009
Artist:
Roy Green
Country:
Scotland
Condition:
Niemann-Pick Disease
Artist Statement: "During the week I am often found delving into the realms of art, music, radio, textiles, traveling and cinema. At present I'm working on a couple of mixed media projects, one of which I have just completed. I feel my interpretation of Monet's "San Giorgeio Maggiore at Sunset" using paint, pastel and tissue portrays the ultimate sunset with the enhanced use of colour and texture."
The NNPDF would like to remind the NPD community that Genzyme's Expression of Hope III (EOH) program is still open for submissions.
Expression of Hope is a global program of awareness and inspiration featuring works of art by the Lysosomal Storage Disorder (LSD) community. Artists of all ages and artistic ability -- including patients, caregivers, family members, friends, and healthcare providers -- who have been affected by an LSD can submit an original work of art that reflects their own individual story.
This unique program encourages anyone affected by a lysosomal storage disorder to create and submit a work of art that expresses their experiences of living with an LSD. Through the Expression of Hope program, Genzyme furthers its long-standing history of collaboration with patient advocacy organizations around the world to help raise awareness and build a stronger global network of support for people affected by LSD's.
The NNPDF wishes to encourage all of those who have a loved one diagnosed with NPD to take part in the Genzyme's (A Sanofi Company) ~ Expression of Hope III (EOH). Genzyme's EOH III ~ supports all of our NPD Advocacy “group-like” mission's to advance education and raise awareness into NPD in a collaborative effort globally. Won't you consider taking part in 2014? Let your artistic abilities SOAR in honor of your loved one diagnosed with NPD!
Better yet ~ be creative and support the artistic ability of a loved one living with Niemann-Pick Disease and assist them in creating a piece of art for submission! Once an artist has completed a piece, it should be photographed and digitally submitted to the Expression of Hope website. All submitted works that meet entry criteria will be presented in the online gallery on the Expression of Hope website.
Submit Your Artwork!
Expression of Hope Now Open for Submissions ~ Deadline: Friday, December 5th, 2014
At the close of the submission period on December 5th , a panel of art professionals will then identify submissions to be designated as Featured Art, which will be displayed in global exhibits and materials in early 2015.
[Dec 4th, 2014 ~ blg]
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Update from Genzyme on
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The NNPDF Central Offices have been notified that the Genzyme, a Sanofi Company, has posted an update to clinicaltrials.gov on the recently announced the details of the pediatric Phase 1 / 2 clinical trial of recombinant human acid sphingomyelinase (rhASM).
You may find information and details associated with this trial at: clinicaltrials.gov and enter Clinical Trials ID #: NCT02292654 in the search box.
The title of the trial is listed as: Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency
The study is NOT yet open for participant recruitement.
The wider NPD patient advocacy support community is working hand-in-hand with representatives from Genzyme to post a further patient update with more details and information. We will make this memo available as soon as it is received from Genzyme.
In the interim, if you have any questions ~ please feel free to contact the NNPDF Central Offices at: 1-877-287-3672 or e-mail: [email protected]
This is truly an exciting time for our Niemann-Pick Disease Type A & B (ASMD) families and community as the NNPDF looks forward to working with all involved in this matter as we work to ~ PERSEVERE in our Quest for a Cure!
Kind regards,
Nadine
[Dec 3rd, 2014 ~ blg]
With Giving "Tree" Tuesday, December 2nd, soon to be upon us, we wanted to share with our NPD community yet another way in which you can raise awareness, as well as, funds in support of the NNPDF program services.
With the popularity of selfie photos across social media, we want to encourage you to use this media avenue called an #unselfie to redirect the focus in a positive direction and shine a light on the generosity of spirit, which shines brightest among the NPD community.An #Unselfie is taking a photo with a caption explaining why you are choosing to give, tagging it with #unselfie and #givingtuesday and posting it online to share with friends and family to inspire others to give of themselves as well.We would like to encourage our families to do the same this #givingtuesday and through year end 2014, "Season of Giving", as a reminder of why we give, not only financially, but of our time and ourselves.
We feel kindess can make all the difference in changing people's lives directly, as well as, indirectly by changing the perspective of those viewing the kindess.
"NNPDF Participates in Giving Tuesday"
Jefferson Daily Union, by Pam Wilson
Dateline: Nov 24th, 2014
Dear NNPDF Families and Friends,
As we continue with our #GivingTuesday campaign, our local newspaper, the Jefferson Daily Union released an article detailing the Foundation's efforts to raise awareness and funds for Niemann-Pick Disease programs on December 2nd, 2014!
The article, written by Pam Wilson, details not only what the intent behind the #GivingTuesday campaign is in general, but why the Giving Tree was the decided theme the NNPDF developed for this year.
Click Here to Read the Article in PDF Format " The “Giving Tuesday” theme resonates with NNPDF planners, who have tweaked the title just a little to make it “Giving Tree Tuesday,” in reference to the classic children’s book “ The Giving Tree ” about a tree that gives everything from apples to shade and one day gives up everything to provide wood for the person it has assisted for all of these years.
For many years, the NNPDF’s theme has been “Persevere,” later expanded to “Persevere for Life.”
For this campaign, coordinators brought in the idea of the “giving tree” to represent the tree of life and the family tree, standing for both the family members of those with Niemann-Pick Disease and for the support affected families find within the overarching organization of the NNPDF itself. "
We would like to encourage our friends and families to help raise funds this #GivingTuesday by making their year-end donation online after December 2nd, 2014 to earn matching funds via www.nnpdf.ca.
[Nov 25, 2014 ~ blg]
"
Could a Form of Sugar Treat Deadly Niemann-Pick Disease?
"
CNN News Article & Video News Segment
Dateline: November 22nd, 2014
Hugh & Chris Hempel with daughters Addi & Cassi (NPC)
" Hugh & Chris Hempel have two young daughters who suffer from a rare disorder, called Niemann-Pick Type C. Patients struggle with movement, gradually lose the ability to speak and eventually the ability to think. But Hugh and Chris have never given up on looking for a cure ."
Below are links to the November 22nd, 2014 article, as well as, the CNN videos from Vital Signs with Dr. Sanjay Gupta originally aired on Saturday, November 22nd at 4:30pm ET and Sunday, November 23rd at 7:30am ET.
CNN Vital Signs with Dr. Sanjay Guptat:
- Part 1 ~ Living with Childhood Alzheimer's
- Part 2 ~ Parents Fight to Cure Rare Disease
- Part 3 ~ Family's Crusade Reaches Milestone
Click here to read the CNN article by Caleb Hellerman on CNN.com
(Scroll down the page article for parts 1-3 of the videos mentioned above)Click here to view the PDF version of the article
[Nov 24th, 2014 ~ blg]
Dear NNPDF Families and Friends,
On Tuesday, December 2nd, the National Niemann-Pick Disease Foundation (NNPDF) will be participating in a national day of generosity, #GivingTuesday. It’s a day when you can make a big impact on all of our loved ones living with NPD; support the foundation and all the services which the NNPDF provides to our membership!
With your help, we’ll raise funds in support of our key program services and the essential research which is needed to fund research into a treatment, and one day, a CURE for Niemann-Pick Disease.
When you make a gift online, using Paypal as your payment option, between December 2nd ~ December 31st, 2014~ the CCNNPDF will earn matching funds from our partner, CanadaHelps—making your support go even further.
How can you be part of it? Here are a few simple ideas:• Consider making a gift on #GivingTuesday, December 2nd online at: www.nnpdf.ca
• Help us get the word out on social media by requesting and using a custom Facebook icon & cover photos created in the NNPDF central office.
• Take UNselfies to post on Facebook, Twitter, or Instagram and hashtag it with #GivingTuesday to show how you are “paying it forward” this holiday season.
With your support, we WILL “Persevere in our Quest for a CURE” and continue to give back to the ones we love!
[Nov 21st, 2014 ~ blg]
Dear NNPDF Families and Friends,
The NNPDF November 2014 e-Newsletter is available! Highlights include:
- NNPDF Giving "Tree" Tuesday
- Genzyme's "Expression of Hope" Art Contest
- November 2014 ~ National Family Caregiver's Month
- NPD Type C in Connection to the Ebola Virus
ALERT: Let us Help You Raise Awareness into Niemann-Pick Disease with Custom Facebook Graphics created specifically for you and your loved ones!
While #GivingTuesday isn't until December 2nd, the NNPDF is working to get an early start on raising awareness across its websites, social media links & within the NPD community.
How can you get involved? It's simple! Request a custom Facebook cover and profile graphics to help raise awareness on your social media pages leading up to #GivingTuesday!
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Facebook Icon ~ US |
Facebook Cover Photo ~ US |
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Facebook Icon ~ Canada |
Facebook Cover Photo ~ Canada |
For instructions on how to request a custom Facebook cover or profile picture:
Visit the Giving" Tree" Tuesday page for additional information!
[Nov 18th, 2014 ~ blg]
Dear NNPDF Families and Friends,
With Thanksgiving right around the corner, it also means Black Friday and Cyber Monday are not far behind. Sometimes we can get caught up in the hustle and bustle of these retail days and forget that the holidays are not about the best deals you can get, or even the gifts themselves. It's about giving of our time and our love to those dearest to us. For this, there is #GivingTuesday on December 2nd, 2014.
#GivingTuesday was created by the United Nations and 92Y in 2012 and is a national day of giving to kick off the holiday giving season, which takes place on the first Tuesday following the Thanksgiving, Black Friday and Cyber Monday shopping madness. Volunteering, making donations, or even paying forward a kindness you were shown are only a few of many ways you can participate.
The NNPDF, wanting to raise awareness, as well as, honor all those with Niemann-Pick Disease and their families, have put together our Giving "Tree" Tuesday campaign. Every Tuesday and Friday leading up to December 2nd, we will highlight ways in which to give back this holiday season.
Facebook Icon ~ US |
Facebook Cover Photo ~ US |
Facebook Icon ~ Canada |
Facebook Cover Photo ~ Canada |
We've also created custom Facebook covers & icons for both our US and Canadian families to help spread awareness leading up to December 2nd! These graphics were made to the exact Facebook dimensions and specifications to fit your profile cover and icon.
For instructions on how to request a custom Facebook cover or profile picture:
Visit the Giving" Tree" Tuesday page
Stay tuned for more information on how donations made to the NNPDF on December 2nd through the Network for Good could be eligible for matching funds!
[Nov 14th, 2014 ~ blg]
"Twins with Rare Genetic Disorder Could Hold Clue to Cure for Ebola"
CBS News Article
Dateline: November 12th, 2014
Cassi and Addi Hempel (NPC)
Dear CCNNPDF Families and Friends,
With the world's eyes currently on the Ebola topic, as well as the interest in how the NPC1 gene could help to develope a cure for it, more news coverage is being released.
CBS News published an online article on November 12th that discusses how current research may lead to the development of drug that uses NPC1 to stop an Ebola infection. It also follows the Hempel families journey and how the disease they have been fighting for for 8 years could prove beneficial in saving lives.
[Nov 13th, 2014 ~ blg]
What is #GivingTuesday?
Dear CCNNPDF Families and Friends,
#GivingTuesday is a global day dedicated to giving back. On Tuesday, December 2, 2014, charities, families, businesses, community centers, and students around the world will come together for one common purpose: to celebrate generosity and to give.
It’s a simple idea. Just find a way for your family, your community, your company or your organization to come together to give something more. Then tell everyone you can about how you are giving. Join us and be a part of a global celebration of a new tradition of generosity.
The National Niemann-Pick Disease Foundation and its Canadian Chapter are working on a global #GivingTuesday campaign to raise optimal awareness and funds in 2014 for NPD programs. It all begins with our Persevere for Life Tree, or in this case, our NNPDF Giving "Tree" Tuesday.
Stay tuned to learn about matching fund opportunities for donations made to the NNPDF on Giving "Tree" Tuesday, December 2nd, 2014 and through year end.
[Nov 11th, 2014 ~ blg]
Genzyme Clinical Trial Update
Safety and Tolerability of Within-Patient Dose Escalation
Presentation by: Dr. Melissa Wasserstein
Melissa P. Wasserstein M.D.
During the 2014 Annual Meeting of the American Society of Human Genetics (ASHG), held from October 18th-22nd in San Diego, California, Dr. Melissa Wasserstein M.D. was honored to give a presentation on the results of the safety and tolerability of the enzyme replacement therapy (ERT) 1b clinical trial being funded by Genzyme, a Sanofi Company.The key information noted within the abstract was that: “ The dose escalation regimen was well tolerated, with all patients reaching the maximum dose of 3.0 mg/kg. No serious or severe adverse events or deaths were reported. Related AEs consisted predominantly of infusion-associated reactions, the majority of which were mild and resolved without sequalae. A positive response to treatment with rhASM was observed in liver sphingomyelin content and several exploratory efficacy parameters, including spleen and liver volumes, pulmonary function testing, lung imaging, lipid profile, and quality of life assessments.”
Click here to review the abstract from the presentation .
Further updates from the entirety of this research are planned to be presented at the 11th Annual WORLD (We’re Organizing Research on Lysosomal Disease) Symposium in Orlando, Florida ~ February 9th ~ 13th, 2015.
In addition, the NNPDF is pleased to advise that Dr. Wasserstein is also a two-year grant recipient of the NNPDF in support of her research study to describe the natural history of NPD type A and B. This research study is designed to collect serial data in patients with NPD. Patients will complete various medical study evaluations. See full lay summary on the NNPDF Funded Research Grants page .
[Nov 6th, 2014 ~ blg]
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Dear NNPDF Families and Friends,
Due to the amount of interest surrounding Ebola and NPC, which has been directed to the NNPDF Central Offices, we reached out to Dr. Daniel Ory, past NNPDF Scientific Advisory Board Chair, with a request to further clarify some of the inquiries that were received. We hope that the following Q & A segment with Dr. Ory helps to offer better insight to the Niemann-Pick Disease (NPD) community about these findings and how it may affect your loved one diagnosed with NPD.
In addition, we have created a web page dedicated exclusively to this topic, provided previously published research papers, and will support future updates as they become available.
Visit the NPD Type C in Connection to Ebola web page for the full Q&A .
[Nov 5th, 2014 ~ blg]
Researchers Study Ebola Link to Gene in Rare Disease ~ Niemann-Pick Type C
NPD Type C and Connection to Ebola
A Wall Street Journal Article
Written by: Amy Dockser Marcus
Dateline: November 2nd, 2014
Hughe and Chris Hempel
(parents of Addi and Cassi (NPC) donating to Coriell Science biobank
to further research in connection to Niemann-Pick Type C & the Ebola virus.
Dear NNPDF Families and Friends,
Right on the heels of October 2014 as GLOBAL Niemann-Pick Disease Awareness Month, a news article has been posted in the Wall Street Journal highlighting the unique connection between NPD Type C and Ebola. Wall Street Journal Medical writer, Amy Dockser Marcus, who previously wrote an in-depth article on the Hugh and Chris Hempel family, their twin daughters, Addi & Cassi and their journey with NPD Type C, brings the research around full-circle.
Hugh Hempel noted, "In 2009 we donated our cells (a little punch biopsy under our arm) to a non-profit bio-bank in order to make it easier for scientists to research NPC. Never imagined that Ebola researchers would take our cells and use them to discover that our RareDisease could enlighten a treatment for Ebola... Check out the Wall Street Journal Article about this amazing connection."
The members of the NNPDF Scientific Advisory Board have indicated for years that the NPC gene is so very complex and likely holds the key to answers for a wide array of diseases and illnesses.
To see a WSJ Health & Science Video and to read more about this finding in the Wall Street Journal article~ click here: http://online.wsj.com/articles/researchers-study-ebola-link-to-gene-in-rare-disease-1414965218
Kind thanks to the Hempel family and Amy Marcus for continuing to keep NPC in the focus of researchers and the medical community.
Nadine Hill, Executive Director
National Niemann-Pick Disease Foundation ~ www.nnpdf.org**For anyone attempting to view the article, it seems that it has now been locked to those without a paid subscription to the Wall Street Journal. If you have a subscription, you should have no issue viewing the article.
For those who don't have a WSJ paid subscription, the article has been reposted here: http://globalgenes.org/raredaily/researchers-study-ebola-link-gene-rare-disease/You can also view the article as presented in the WSJ Newspaper: Here
To view Amy Dockser Martin's previous Wall Street Journal article on NPC, visit: /NewsLinePage.html#Trials
[Nov 3rd, 2014 ~ blg]
Bryce A. Bigler (NPA)
08/29/2012 ~ 10/19/2014
Bryce A. Bigler (NPA)Dear NNPDF Friends and Families,
It is with profound heartbreak that we inform our NPD community that Bryce Bigler (Age 2, NPA) beloved son of Cortney Showalter & Matthew Bigler, lost his battle with Niemann-Pick Disease type A. This courageous little boy passed away surrounded by love and family at home on October 19th, 2014.
Bryce’s family shared that he was a loving, happy, precious baby boy whose smile could light up a room. At his tender age of two years, Bryce was wise beyond his years, and didn't want to be treated differently because of his disease.
His love and passion for fire trucks offered him so many wonderful opportunities to reach out past his family and connect with Fire departments in his community. Little Bryce was bestowed, by several local fire departments, with the honorary titles of Chief, Lieutenant and Paramedic.
While all of our hearts are broken for Bryce and his family for his short time on this earth, we also stand in awe of all this “little man” accomplished in the time he was given. He is an inspiration to all who knew, loved and would ultimately come to love him at first meeting and be pulled in deeper with a flash of his happy grin!
The NNPDF would like to extend our thoughts and hearts out to Bryce's family at this time. When times seem their very darkest, sometimes all it takes to find the calm after the storm is a guiding hand and a comforting shoulder to lean on.
If you would like to read Bryce's beautifully written on-line obituary: Click here .
The Central Office Staff and Board of Directors of the NNPDF.
[Nov 4th, 2014 ~ blg]
Bradley Greg Mackie
07/22/1960 ~ 07/31/2014
Bradley Greg Mackie (Adult NPC)
Dear NNPDF Families and Friends,
The NNPDF was so sorry to learn that Bradley Greg Mackie lost his battle with adult on-set Niemann-Pick type C on August 31st of this year. Nine days prior to his death, all his family, friends and those who held him dear, gathered to celebrate with Brad as he marked his 54th birthday. In the end, he is remembered by those who loved him deeply, including his brother Bart who is also facing the day-to-day struggles associated with NPC.
Brad was featured in our October Awareness Month in 2013, regarding adult NPC. We shared the below video of him in a quiet moment with his loyal companion Dusty.
His mother, Lynne Lambright, shared the following loving thoughts of her son:
"He was beautiful, strong, kind and brave. Brad never once complained about anything; a true statement to his character. He deserves to be honored for his long fight with NPC".
Brad (Adult-NPC) & Bart (Adult-NPC) Mackie with their cousin, Dana Wilson in the centerIf you would like to view his on-line obituary: Click Here
[Nov 3rd, 2014 ~ blg]
Dear NNPDF Families and Friends,
WHEW! DAY 31 ~ we have made it to the final day of our 2014 October GLOBAL Niemann-Pick Disease Awareness month event and we can't thank you enough for staying with us till the very end! The National Niemann-Pick Disease Foundation began the daily postings for October as NPD Awareness Month in 2013 as a daily reminder that anything is possible through PERSEVERANCE! With all of the fundraisers held, the family and friends mailings, the buzz and excitement of creative projects and unique ideas in which families worked to raise awareness, we are all reminded daily of our NPD communities strength and how, no matter the circumstances, you continue to Persevere for your loved ones living with Niemann-Pick Disease.
During October 2014, we reached beyond the United States and Canada to our advocates overseas to bring GLOBAL NPD Awareness throughout the world. We've created a page devoted to the 31 days of our 2014 October GLOBAL Niemann-Pick Disease Awareness Month where you can conveniently browse through each daily highlight at your leisure.
With every daily post shared, we were also able to include one of “NPD Facts” developed by Rebecca Spencer (Mom to Jonathan ~ NPC) which not only included “snip-its” of information about NPD but also included photos of our NPD loved ones living courageously with NPD. This is such a creative way to capture hearts and build up both knowledge and awareness into NPD at the same time.
A HUGE note of thanks to Rebecca for sharing her creative spirit and talents with us all! It is appreciated.
Heartfelt thanks to ALL in the NPD Community for your continued support!
You ARE our inspiration!
We WILL continue to PERSEVERE in our Quest for a Cure!
Visit the 2014 October Global Niemann-Pick Disease Awareness Month Recap page
Niemann-Pick Disease Facts
~ Day 31 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 31st, 2014 ~ blg]
Dear NNPDF Friends and Families,
Day 30 of our 2014 October GLOBAL Niemann-Pick Disease Awareness Month event, allows us to delve deeper into the PatientsLikeMe (PLM) program and share how it can be used to not only to benefit individual families on behalf of their loved ones diagnosed with NPD, but by our NPD scientists, researchers and doctors as well, who are working diligently towards finding a therapy for Niemann-Pick Disease.
The National Niemann-Pick Disease Foundation is partnering with PatientsLikeMe (PLM), to offer our NPD membership an additional tool to network and communicate with one another. As social media resources continues to evolve, we have found that the current social media platforms which help us to connect our community (ie: Facebook, Twitter, the NNPDF Yahoo List serve) don’t fulfill the medical and necessary privacy niche which the PLM platform does. PatientsLikeMe is the first of its kind when it comes to understanding the medical side of a disease, tracking that information and compiling it into an understandable format for those who enter the database at a later date. We envision the PLM site for Niemann-Pick Disease to become an essential tool for all of our NPD families ~ a go-to resource in how best to support their loved ones diagnosed with NPD.
Patients and their families can connect via this specific Niemann-Pick Disease PLM site and not only share their personal experiences, but provide more specific medical aspects without the added concern of who has access to this information. When a family member provides sensitive medical information for a NPD patient, you can be assured that it will only be accessed by those within the NPD community, as well as, health professionals doing research into treatment for NPD. The data which is monitored, tracked and collected will assist with research and as more information is added and utilized, it will offer all a better understanding as to the progression of the disease. This, in turn, will provide for the first time a solid base for which to “treat” the symptoms of NPD and assist in building a better quality of life for all those living with Niemann-Pick Disease.
With PatientsLikeMe (PLM) you can:
- Learn from Others: Compare treatments, symptoms and experiences with people like you and take control of your (or your loved ones) health.
- Connect with People Like You: Share your experience, give and get support to improve your life and the lives of others.
- Track Your Health: Chart your health over time and contribute to research that can advance medicine for all!
Signing up is free and easy! Just visit http://www.patientslikeme.com to get started! Please feel free to contact the NNPDF Central Offices if you have any questions and/or would like some assistance getting started. We will be providing additional information, links and updates in the days and weeks ahead.
Niemann-Pick Disease Facts
~ Day 30 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 30th, 2014 ~ blg]
Dear NNPDF Families and Friends,
With only 3 days left until the end of our GLOBAL Niemann-Pick Disease Awareness month, the NNPDF would like to share a new social media website to our NPD community, called Patients Like Me, where our families can interact, gain support and share their experiences with one another in a private setting.
PatientsLikeMe was co-founded in 2004 by three MIT engineers: brothers Benjamin and James Heywood and longtime friend Jeff Cole. Five years earlier, their brother and friend Stephen Heywood was diagnosed with ALS (Lou Gehrig’s disease) at the age of 29. The Heywood family soon began searching the world over for ideas that would extend and improve Stephen’s life. Inspired by Stephen’s experiences, the co-founders and team conceptualized and built a health data-sharing platform that can transform the way patients manage their own conditions, change the way industry conducts research and improve patient care.
PatientsLikeMe is committed to putting patients first. They do this by providing a better, more effective ways for patients to share your real-world health experiences in order to help themselves, other patients and organizations that focus on related conditions. At this time, PatientsLikeMe (PLM) is providing all NPD families world-wide with a loved one diagnosed with Niemann-Pick Disease Type C, an opportunity to join this Patient based networking health site.
PLM will allow our NPD families to share information and build your loved ones health-history on-line and will assist us to build an on-line medical data site which more closely outlines and reflects the progression of Niemann-Pick Disease. We will be providing more details and support information in the days to come.
Visit and sign up for Patients Like Me (it's free!) at: http://www.patientslikeme.com/
1. Fill out the sign-up information as a patient.
2. When it asks you to list the people and topics you follow, type in "Niemann-Pick Disease" and choose that as your condition.
3. Follow the online directions to complete your profile.
Note: This information is kept confidential and anonymized.
Stay tuned for tomorrow's post where we detail how the site can work for you!
Niemann-Pick Disease Facts
~ Day 29 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 29th, 2014 ~ blg]
Think Again. Think NPC Campaign
A major hurdle we learn of time and again from our NNPDF family membership is the challenge to a diagnosis. Due to this, Niemann-Pick Type C takes, on average, five years to diagnose. Because NPC is treatable this means that patients live for five years without treatment or access to support.
Think Again. Think NP-C is a campaign identified and developed by the International Niemann-Pick Disease Alliance (INPDA), co-founded by the National Niemann-Pick Disease Foundation (NNPDF), to reduce the time to diagnosis by supporting healthcare professionals who are unfamiliar with NP-C to recognise the key signs and symptoms of the disease. This will help patients by speeding up diagnosis so patients can access treatment and support.
Early diagnosis means patients can access support, which can improve their quality of life and the lives of those around them. Early diagnosis is also important as NP-C is a treatable disease. Treatment can help to manage the symptoms and can slow down the progression of the disease.
So on our 28th day of our 2014 GLOBAL October Niemann-Pick Disease Awareness month event, we're taking the first step towards rolling out this campaign aimed at healthcare professionals. It is YOU, our NNPDF Family Membership that play a major role on ensuring that the NP-C community is able to create the ground swell support neccesary to reach out to medical professionals beyond your community and indeed worldwide.
We are pleased to share the below social media links and impactful three minute Think Again. Think NPC video with our NPC community as we kick-off this campaign to help spread awareness.
Follow Think Again. Think NP-C on Twitter
Follow Think Again. Think NP-C on Facebook
Subscribe to Think Again. Think NP-C on Youtube
Visit TheThink Again. Think NP-C WebsiteWe WILL Persevere in our quest for a cure!
Niemann-Pick Disease Facts
~ Day 28 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 28th, 2014 ~ blg]
Dear NNPDF Families and Friends,
On the 27th day of our October 2014 GLOBAL Niemann-Pick Disease event, we are continuing with an introduction to the International Niemann-Pick Disease Alliance (INPDA). Today, Day 27, we turn our attention to another project being spearheaded by the INPDA ~ the NEW International Niemann-Pick Disease Registry (INPDR).
In 2013, the INPDA was awarded a grant in support of creating the FIRST International Niemann-Pick Disease Registry (INPDR) database ~ truly a new concept in rare disease registries which will improve the care of Niemann-Pick patients across the world. The goal is for the INPDR to build and ultimately provide all with accurate numbers of those affected with NPD around the world, as well as, allowing patient advocacy groups globally to support a wider spectrum of families.
A registry is an important tool for collecting and recording information about a disease: how it affects and progresses in an individual patient and how it presents to those involved in diagnosis, treatment and research. Registries are typically held by the pharmaceutical industry to investigate a single drug. This can lead to several registries for the same disease, and limited access to the data gathered.
The INPDR is a disease registry owned by patient groups and clinicians involved in the care of NPD patients. It will enable progress by allowing authorized access to anonymized clinical data, helping to identify and recruit patients to clinical trials and coordinate research efforts globally.
This will stimulate a steep change in the volume and quality of research into NPD which will help to improve patient outcomes!
The INPDR is owned by the International Niemann-Pick Disease Alliance ( www.inpda.org ) and aims to improve the care of patients with Niemann-Pick Disease (NPD) across the world, by:
- Sharing information ~ collating anonymized patient data from across the world in a consistent format.
- Gaining knowledge and insight ~ establishing the natural history of NP diseases.
- Improving research ~ coordinating research efforts globally.
- Enabling rapid diagnostics ~ facilitating equitable access to state of the art diagnostic test.
The registry is still in the “building stages” and once ready for information to be entered and populated into the registry ~ we will send out additional details. At this time, you can learn more information about the International Niemann-Pick Disease Registry (INPDR), please visit the INPDR web site at: www.inpdr.org
Niemann-Pick Disease Facts
~ Day 27 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 27th, 2014 ~ blg]
Dear NNPDF Families and Friends,
Today we're highlighting the key projects the International Niemann-Pick Disease Alliance (INPDA) are working on to not only assist with the over-all patient & family experience, but how working collaboratively with scientists, researchers and doctors could one day speed up the process of diagnosis.
The following programs have been adopted by the INPDA:
|
|
|
| The International Niemann-Pick Disease Registry is a new concept in reare disease registries. Owned by the INPDA; developed & managed in collaboration with international experts; aiming to improve the care of patients across the world. | An International campaign to imrpvode diagnosis by raising awareness of the signs and symptoms of Niemann-Pick type C disease amongst healthcare professionals with little or no knowledge of the condition. |
An INPDA research forum, held every two years, bringing researchers together from across the world to discuss progress and identify research priorities.
(Jim Green's recap?) |
Stay tuned for additional information regarding the INPDA's groundbreaking international registry on Monday!
Niemann-Pick Disease Facts
~ Day 26 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 26th, 2014 ~ blg]
Dear NNPDF Families and Friends,
As we close out week four of our 2014 October GLOBAL Niemann-Pick Disease Awareness Month, we would like to turn our focus towards the GLOBAL impact that Niemann-Pick Disease (NPD) has as it affects individuals of all nationalities and in all countries around the globe.
While the NNPDF and CCNNPDF work diligently to extend support to any and all families who reach out to us for support, there are times where distance and language do become barriers in offering support for a specific NPD family need.
Identifying that Niemann-Pick Disease doesn’t discriminate and is diagnosed around the world, the NNPDF and the NPD Group United Kingdom co-hosted the initial gathering of established international NPD patient advocacy groups. From that initial meeting in October of 2009, the International Niemann-Pick Disease Alliance (INPDA) was formed.
The INPDA is an, "international response to a group of diseases that present challenges that cross all national boundaries. The INPDA also is able to provide a forum, where, through the exchange of information, experience and knowledge, progress could be accelerated.”
The member groups of the INPDA co-operate internationally with patient groups and professionals involved in Niemann-Pick Disease care and/or research. Many countries do not yet have a dedicated patient support group for NPD. The INPDA can support the formation of such groups, and working together, enable access to support, care and information.
At present, the following countries are working with the INPDA to support those affected by worldwide by NPD:
Argentina France India Netherlands Switzerland
United States
To learn more about the International Niemann-Pick Disease Alliance (INPDA): Click Here
Niemann-Pick Disease Facts
~ Day 25 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 25th, 2014 ~ blg]
Dear NNPDF Families and Friends,
NEWSLINE: Genzyme Pharmaceutical Main Offices ~ Cambridge, MA!
Genzyme lab staff with Jack Visoky (NPB)Genzyme Pharmaceutical employees and ASMD team leaders scheduled time to recognize October 2014 as GLOBAL Niemann-Pick Disease Awareness Month at their main offices in Cambridge, MA today (10/24/14).
Genzyme welcomed NNPDF Board of Director’s member, Eilssa Miller-Visoky and her son, Jack (NPB ~ Age 10), for special presentations and recognitions throughout the day highlighting NPD patient advocacy efforts to raise awareness into Niemann-Pick Disease.
Jack was able to share his story about growing up with Niemann-Pick Disease Type B with Genzyme employees and ASMD team leaders at the Framingham, MA manufacturing plant, as well as, during a lunch reception at the Genzyme main offices in Cambridge.
Elissa Miller-Visoky and her son, Jack
A special thanks and “shout-out” to Jack for his courage in sharing his unique story about the day-to-day struggles and journey on living with NPD Type B.
You are our hero Jack!
We WILL Persevere in our Quest for a Cure!
Niemann-Pick Disease Facts
~ Day 24 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 24th, 2014 ~ blg]
Dear NNPDF Families and Friends,
On the 23rd day of our 2014 October GLOBAL NPD Awareness month event, we're taking the time to give special recognition to our NNPDF family efforts and how our families have brought us to this new threshold of therapeutic treatments for both Niemann-Pick Type C, as well as, acid sphingomyelinase deficiency (ASMD).
The members of the National Niemann-Pick Disease Foundation would like to offer a genuine note of thanks and heartfelt gratitude to the many individuals, families, community members, advocacy groups, as well as, esteemed members of the research and scientific community who all came together in a truly collaborative effort to see this process through to the below clinical trials.
NIH Cyclodextrin Trial
For Niemann-Pick Disease Type C ~ Pediatrics
UPDATED : 6/27/2014
NIH Clinical Trial Updates for NPC Adults
HDAC Inhibitor ~ vorinostat
UPDATED : 09/12/2014
Orphazyme Clinical Trial Update for
Niemann-Pick Disease Type C
UPDATED : 09/08/2014
The kindness and generosity of the Niemann-Pick Disease Community ensures that essential research and clinical trials will continue as we Persevere in our quest for a cure!
Niemann-Pick Disease Facts
~ Day 23 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 23rd, 2014 ~ blg]
Dear NNPDF Families and Friends,
Marching right along with October 2014 as GLOBAL NPD Awareness month event, Day 22 day provides us with an opportunity to share research news from the laboratory of Dr. Andrew Munkacsi, who recently completed his Peter G. Pentchev research fellowship.
Andrew Munkacsi, Ph.D.Trained at Columbia University Medical Center and the University of Minnesota, Dr. Munkacsi is a translational research scientist using high-throughput genomic, lipidomic, and metabolomic approaches to investigate human disease, human nutrition, molecular evolution, and functional biodiversity. His current laboratory at the Victoria University of Wellington opened in July of 2012. Dr. Munkasci’s latest update is of key importance as his work ties to the recently announced NIH Clinical trial for NPC Adults to study the safety and tolerability of vorinostat.
Please refer to the Histone Deacetylase Inhibitors (HDACi) ~ vorinostat Clinical Trial web page for addtional information related to Dr. Munkacsi's research and the ongoing clinical trial.
Project Title :
"Defining the molecular basis of HDAC inhibitors to treat murine, feline, and human models of NPC"Final Lay Summary ~ April 2014: We previously demonstrated that the homeostasis between histone acetylation (HAT) and histone deacetylation (HDAC), a process that regulates gene expression, is dysregulated in NPC disease with an excess of HDAC activity, and thus used the clinically approved HDAC inhibitor (suberoylanilide hydroxamic acid, SAHA, Vorinostat, Zolinza®) to reverse the major diagnostic criteria of NP-C disease in NPC patient cells (Munkacsi et al., J. Biol. Chem., 2011). These hallmarks are the lysosomal accumulation of both cholesterol and sphingolipids as well as the defective esterification of LDL-derived cholesterol. As an NNPDF Peter Pentchev Fellow, I am determining the therapeutic efficacy of Vorinostat by translating our in vitro (cells in a dish) results to in vivo (whole body) results in animal models of NPC disease.
Vorinostat exhibits great potential as a therapy for NPC patients since it is already approved by the FDA to treat cutaneous T-cell lymphoma and is readily available as oral tablets. To reformulate a drug used in adults for use in children, we optimized dosage and delivery of Vorinostat in mice at an age analogous to children (21 days old, the first day off mother’s milk). We determined the maximum dose that is not toxic in the Npc1nmf164 mouse model of NPC disease. This treatment resulted in concentrations of Vorinostat in the mouse that we previously used to rescue lipid accumulation in NPC patient cells. Of particular importance to adapting a cancer drug to the neurodegenerative NPC disease, we critically determined that Vorinostat crosses the blood-brain barrier. These results predict that this Vorinostat treatment will rescue lipid accumulation in the brain and liver of the mice. We now have preliminary evidence that Vorinostat is a viable therapeutic option in the liver of the Npc1nmf164 mouse and are now in the process of testing if it is also a therapeutic in the brain extending the lifespan of the mouse. Comparable experiments will also be conducted in the feline model of NPC disease using a dosage that is calibrated for the weight of a cat. These studies testing the therapeutic efficacy of Vorinostat in animal models of NPC disease will determine the potential of Vorinostat as a therapy to treat children and adults affected with NPC disease.
Follow this link to learn more about Dr. Munkacsi's specific research: http://www.nnpdf.ca/FellowshipsFunded.html
Niemann-Pick Disease Facts
~ Day 22 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 22nd, 2014 ~ blg]
Attention: NNPDF Membership and Supporters
The National Niemann-Pick Disease Foundation annually engages an outside independent third party Certified Public Accountant (CPA) to perform a full annual audit of the foundation’s financial records and for the preparation of the required annual tax documents.
We are pleased to report that the NNPDF hired CPA had no significant concerns pertaining to existing foundation policy for the audit for the fiscal tax year ending, December 31st, 2013.
All current members of the National Niemann-Pick Disease Foundation Board of Director’s were able to review the Independent Auditors report, the Federal 990 tax forms for 2013 and the State of Wisconsin 2013 tax documents prior to filing.
Under the direction of the members of the NNPDF Executive Committee the 2013 990 is posted here: http://www.nnpdf.ca/aboutus_11.html
[Oct 22nd, 2014 ~ blg]
Dear NNPDF Families and Friends,
In tandem with our October e-Newsletter publication, Day 21 of October as GLOBAL NPD Awareness month, we continue to updates related to the efforts of the foundations funded researchers. In this case, the valuable work of Charles Vite, Ph.D, and the invaluable work that he has been doing with the naturally-occurring Niemann-Pick Type C in cats at the University of Pennsylvania ~ School of Veterinary Medicine.
Dr. Vite's work has been co-sponsored by the National Niemann-Pick Disease Foundation (NNPDF) and the Canadian Chapter of the NNPDF since August of 2011. In ecently was granted a second research grant to continue on with his significant work associated with Niemann-Pick Disease Type C.
The NNPDF Central Offices recently received his most recent progress report which we have noted below:
"Fellowship of the Cats II"
During the past 6 months we have completed and submitted for publication (Vite et al , in review) our work on the efficacy and toxicity of 2-hydroxypropyl-beta-cyclodextrin (HPBCD) in the cat model of NPC disease. This manuscript describes our experience injecting HPBCD directly into the spinal fluid every two weeks beginning at 3 weeks of age, which is before clinical signs begin. Injections were made at the back of the head at the cerebellomedullary cistern. Cats treated in this manner did not develop neurological signs of NPC disease during the period of study. These data have been provided to the Therapeutics for Rare and Neglected Diseases (TRND) NPC group and have helped guide the clinical trial in patients. We are now focused on three studies: 1) the efficacy of treating cats presymptomatically by administering HPBCD at the lumbar cistern (the location where children are currently receiving drug), 2) the optimal treatment of NPC disease in cats that are already showing clinical signs of disease – this group of cats is most similar to children which are most commonly diagnosed with NPC disease after signs are already present, and 3) developing methods to decrease hearing loss in cats receiving HPBCD.
Summary of research performed.
The only colony of Niemann-Pick type 1 disease (NPC) cats in the world exists at the
School of Veterinary Medicine of the University of Pennsylvania. The disease in cats is very similar to
the disease in humans with similar clinical, biochemical, and microscopic abnormalities; it is thought to
be a more accurate model of the disease than is the mouse model. We have been treating affected cats
with various doses of Cyclodextrin into the spinal fluid and have determined that 30 mg (7.5 mg/ml CSF)
intrathecally given every two weeks is sufficient to result in substantial amelioration of neurological
disease with only mild-moderate negative effects on hearing. Treated cats are normal at 1 year of age
(untreated cats die by 6 months of age)
.
Also, in collaboration with Dr. Dan Ory, we are evaluating the accuracy of plasma and CSF biomarkers to
judge whether the dose we are giving is adequately treating disease or whether the dose should be
increased. Current support of the cat colony allows for the production of approximately 15-20 affected
cats per year that are enrolled in efficacy, pharmacokinetic, biomarker, and toxicity studies. We are
applying to the NNPDF to secure funding in order to expand our breeding colony (six more female
heterozygotes) to allow for the production of additional affected cats (n=20 over two years). These cats
would then be used in two specific experiments: 1) to evaluate a new delivery method of cyclodextrin into
the nervous system through an injection in the lower spine (which is necessary for the phase I and II
trials), and 2) to evaluate the efficacy of the histone deacetylase inhibitor (HDAC inhibitor) Vorinostat to
treat NPC disease.Follow this link to learn more about Dr. Vite's specific research: http://nnpdf.org/npresearch_05.html
Niemann-Pick Disease Facts
~ Day 21 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 21st, 2014 ~ blg]
October 2014 NNPDF e-Newsletter
October 2014 NNPDF e-Newsletter now available! Highlights include:
- October Awareness Month Focus ~ NNPDF Research
- NNPDF 2014 Persevere Award Recipient
- Tribute to Dr. Peter Pentchev & Dr. Edward Schuchman
- 2014 NNPDF Fellowship Grant Recipients
- NNPDF & CCNNPDF Awarded Genzyme's PAL Award
- 31 Days of October ~ October Awareness Recap
Click Here to view the October 2014 e-Newsletter!
[October 21st, 2014 ~ blg]
Dear NNPDF Families and Friends,
On the 20th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, we're switching over to how the NNPDF has come to recognize individuals within the Niemann-Pick Community for their Perseverance in a Quest for a Cure!
The Persevere Award is presented to an individual who has integrated the mission of the National Niemann Pick Disease Foundation into his/her life. This person supports and promotes research to find a cure for all type of Niemann Pick Disease and provides support for affected individuals and families. This person has gone above and beyond the call of service to the Niemann Pick Disease community and will Persevere in the fight against Niemann Pick Disease.
2014 Persevere Award Recipient
Dr. Daniel S. OryIn 2014 the NNPDF handed out its first ever Persevere Award to Dr. Dan Ory at the NNPDF Family Support and Medical Conference in San Francisco, California.
Dr. Ory is a Professor of Medicine, Cell Biology and Physiology at Washington University School of Medicine, His lab works in 3 main areas – studying the molecular mechanism of cholesterol homeostasis, the function and regulation of the NPC1 protein and the identification of biomarkers in human disorders associated with oxidative stress.
He has been a member of the NNPDF Scientific Advisory Board since 2002 and chair of the SAB for 6 years. Even though he has stepped down as the chair in 2014, he remains a integral member of the SAB. Dr. Ory has presented to numerous family conferences and has the gift of being able to explain very complex topics in a clear and understandable manner.
For more information, visit the NNPDF Persevere Award Web Page!
Niemann-Pick Disease Facts
~ Day 20 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 20th, 2014 ~ blg]
On the 19th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, we're continuing to look into the research professionals who have had a profound effect on the history of Niemann-Pick Disease and the National Niemann-Pick Disease Foundation fellowship grants.
Today we're highlighting the work of Dr. Edward J. Schuchman and his innumerable contributions to acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease types A and B) research ,as well as, our ASMD community.
Edward H. Schuchman, Ph.D.
Full biography ~ click hereDr. Schuchman is the Genetic Disease foundation Francis Crick Professor and the Vice Chair for Research in the Department of Genetics and Genomic Sciences at the Mount Sinai School of Medicine in New York. He has published over 150 research papers on lysosomal enzymes and storage diseases. Dr. Schuchman and his lab described the first gene mutations causing types A & B Niemann-Pick Disease and created the first mouse model of the disease. They also developed the ERT process for NPB.
Dr. Schuchman has had a long affiliation with the National Niemann-Pick Disease Foundation. He was present at the first joint meeting of the NPC Foundation and the Scientific Advisory Board at Mount Sinai in 1992 and made a presentation to the board about Nieman Pick Disease Type A & B. Dr Schuchman joined the NNPDF SAB in 1998 and served for 10 years prior to stepping off the SAB in 2008 when he received a grant from the NNPDF to fund a project entitled " Construction and Characterization of New Mouse Models for Type A & B NIemann Pick Disease".
The NNPDF was pleased to honour Dr. Schuchmann’s contribution to Niemann-Pick A & B research by naming a research fellowship in his name – The Edward H Schuchman Research Fellowship in ASMD. The fellowship provides 2 years of funding for a post doctoral fellow working in the field of ASMD research and we are happy to report that we are funding an ASMD Schuchman fellowship in the new 2014 ~ 2016 term.
Visit the Edward H. Schuchman Tribute Page
Visit the Fellowships jointly sponsored by the NNPDF and CCNNPDF as well as Research Grants jointly sponsored by the NNPDF and CCNNPDF pages for additional information on Edward H. Schuchman Fellowships.
Niemann-Pick Disease Facts
~ Day 19 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 19th, 2014 ~ blg]
Dear NNPDF Families and Friends,
Now that we have introduced you to our 2014 NNPDF Funded Fellowship recipients, we're using our 18th day to highlight the extraordinary and groundbreaking work of Dr. Peter G. Pentchev both within the field of research, as well as, our Niemann-Pick type C community. In special recognition and to let Peter know how his life’s work has inspired so many we have named our fellowship grants after Peter as the Peter G. Pentchev Research Fellowships.
Dr. Peter G. PentchevAmong his many contributions to the National Niemann-Pick Disease Foundation, Dr. Pentchev encouraged families to take an active stance against Niemann-Pick Disease -- to become organized and start a foundation. You might say he is the father of the NNPDF. He has guided us through the years, shared in our hopes and joys, and grieved deeply with our family and every family when yet another life was lost to this disease.
He was the force behind finding the gene for NPC in 1997, unlocking the key and pushing the door wide open in our understanding of this disease and leading us to where we are today with promising therapies.
Although retired after 30 years at NIH, Peter continues to be an integral part of the research. He has served on our Scientific Advisory Board for the last 21 years and continues to offer his guidance and expertise.
Visit the Peter G Pentchev Tribute Page
Visit the Fellowships jointly sponsored by the NNPDF and CCNNPDF as well as Research Grants jointly sponsored by the NNPDF and CCNNPDF pages for additional information on Peter G. Pentchev Fellowships.
Niemann-Pick Disease Facts
~ Day 18 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 18th, 2014 ~ blg]
Dear NNPDF Families and Friends,
As we continue our focus on foundation funded research this week, the 17th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, we are highlighting another 2014 research award recipient. The National Niemann-Pick Disease Foundation (NNPDF), along with the Canadian Chapter of the NNPDF, are pleased to announce to our NPD communities in the United States and Canada ~ the 2014 recipients of the Peter G. Pentchev & Edward H. Schuchman 2014 Fellowship awards and grants!
Due to the tireless efforts of our US & Canadian NPD family membership over fiscal year 2013, the foundations will be supporting four new research fellowship and scientific grant laboratories associated with Niemann-Pick Disease. To learn more about the NNPDF & CCNNPDF Research Funding Strategies ~ please follow this link: /NewsLinePage.html#Oct13
Kanagaraj Subramanian
For Day 17, we turn our focus to the announcement of a research grant award in support of our NPD Type C (NPC) community through the funding of scientific efforts to develop a roadmap for NPC drug development. Kanagaraj Subramanian from The Scripps Research Institute in La Jolla, CA is the grant award recipient and Principal Investigator of this work.
Project Title:
"Roadmap for Drug Development for Niemann-Pick Disease"The objective of this research proposal is to develop a new class of therapeutics that could rescue the folding
and trafficking defect of most NPC1 variants found in the clinical population.
A paradigm shift is emerging in terms our understanding of how a protein like NPC1 folds and functions in the
cell, and what goes wrong in human inherited disease. Inherited diseases create a problem that is not only
devastating to the family, but an almost incomprehensible challenge to clinicians. What is different about our
approach than that of the current approaches used for drug development is that we use emerging,
evolutionarily conserved protein folding homeostasis or simply ‘proteostasis’ concepts that nature has applied
for 3.5 billion years to make us who we are at this moment in time and space. Proteostasis operates by
optimizing survival on a daily basis and fitness in the long-term- rules that now need to be applied to rare
diseases such as Niemann-Pick, a disease that challenges these rules from the day you are born.
Fundamentally, we take advantage of these 3.5 billion years ‘preliminary results’ that tell us how biology uses
misfolding prevention systems to ensure normal function*. In other words, we are not trying to dictate to
biology how to fix a problem, rather we gently nudge biology to adapt a slightly altered way of ‘thinking’ to
adjust the physiology problem associated with NPC1 disease back into the realm of healthy activity to provide
benefit to the patient. We know this strategy works based on recent successes in other diseases in the clinic,
particularly Cystic Fibrosis.
Our first-in-class approach will now apply a class of newly developed therapeutics we call ‘folding regulators”
that we have recently found to restore NPC1 variant trafficking and normalize cholesterol homeostasis, as a
new approach to treat the disease in the clinic. In our initial efforts, we have identified two novel proteostasis
regulators (referred to as NPC1-C1 and NPC1-C2) that correct the folding and trafficking of the highly
divergent disease-causing I1061T and G1240R mutants- thereby leading to a reduction in cholesterol
accumulation in LE/LY compartments. The ability to correct the function of divergent variants raises the hope
that many variants may also be accessible to the same therapeutic and therefore robust for a clinical
development program. These folding regulators exploit the properties of key cellular ‘chaperones’ and their ‘cochaperones’ (proteins that function like parents to keep their kids out of trouble!) to favor function over the
inherited dysfunction that occurs at birth. Given our discoveries to date, the first goal of our therapeutic
approach will be to optimize the activity of our newly discovered compounds. The second goal will be to get the
optimized corrective compounds into disease models (both mouse and cat models of NPC1 disease) that allow
us to test efficacy in the context of the physiology of the mammalian environment. The third goal will be to
understand exactly how these compounds work- with the hope of identifying even better second-generation
compounds.
In general, we think this new approach, an approach that uses ‘biology to correct biology’ through pathways
that are operational on daily basis in each and every person, whether healthy or sick, provides an opportunity
to not only rethink what is Niemann-Pick disease, but how to manipulate the folding environment to make a
NPC1 variant triggering disease more functional during a patients lifespan and thereby alleviate disease
symptoms. Of course, many challenges remain, but this first-in-class approach is really not new- as I
mentioned, nature has been doing it for 3.5 billion years- we just need to learn how to adapt its rules to
challenges faced by all NPC1 patients that have the common problem of a protein that fails to do the job it
should be doing.
- Visit the Fellowships jointly sponsored by the NNPDF and CCNNPDF as well as
Research Grants jointly sponsored by the NNPDF and CCNNPDF pages for additional information on all of our Fellows.
Niemann-Pick Disease Facts
~ Day 17 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here . GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 17th, 2014 ~ blg]
Dear NNPDF Families and Friends,
As we continue our focus on NNPDF funded research this week, the 16th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, affords us the opportunity to continue highlighting another 2014 research award recipient. The National Niemann-Pick Disease Foundation (NNPDF), along with the Canadian Chapter of the NNPDF, are pleased to announce to our NPD communities in the United States and Canada ~ the 2014 recipients of the Peter G. Pentchev & Edward H. Schuchman 2014 Fellowship awards and grants!
Due to the tireless efforts of our US & Canadian NPD family membership over fiscal year 2013, the foundations will be supporting four new research fellowship and scientific grant laboratories associated with Niemann-Pick Disease. To learn more about the NNPDF & CCNNPDF Research Funding Strategies ~ please follow this link: /NewsLinePage.html#Oct13
Gizely AndradeOn Day 16, we turn our focus to the announcement of a research grant award in support of our NPD Type C (NPC) community through the funding of scientific efforts related to the development of neurophysiological outcome measures for treatment assessment. Dr. Gizely Andrade, who many NPD families may remember from the San Francisco Family Conference for her EEG study, continues her research from the Albert Einstein School of Medicine in New York as the grant award recipient and Principal Investigator of this work.
Pictured: EEG Sessions at the 2014 NNPDF Family Conference in San Francisco, CAIn addition to her newly funded research grant, Dr. Andrade has shared with the NNPDF an earlier publication tied to her research which included three Niemann-Pick Disease Type C patients who took part in an earlier related study. Please find the published paper here .
Project Title:
"Developing Neurophysiological Outcome Measures for Treatment Assessment in Niemann-Pick type C (NPC) Disease."This project will use non-invasive electroencephalography (EEG) and behavioral tasks to examine the integrity of basic sensory transmission in the brain, connectivity between different brain areas, and the brain's ability to benefit from multi-sensory information. This will be the first study to examine multisensory integration in children with Niemann-Pick Type C disease (NPC) and we will monitor for changes in multisensory processing as patients undergo treatment in the cyclodextrin clinical trial. The brain's ability to benefit from multisensory information follows a fine tuned developmental time course and our lab has a large normative dataset tracking the development of multisensory integration in neurotypical children. This allows us to at any given age compare the EEG and behavioral data from NPC participants with those of age-matched controls.
In pilot work we have uncovered severe multisensory deficits and auditory transmission slowing at the
individual patient level in three boys with NPC. The purpose of these studies is to develop an objective, easily obtainable, and inexpensive biomarker against which to examine the effectiveness of new therapeutic interventions. We have recently developed a successful collaboration with Dr. Forbes Porter's team at the Section on Molecular Dysmorhology, Division of Intramural Research at The Eunice Kennedy Shriver National Institute of Child Health and Human Development and are recruiting children from that site who are currently enrolled in or about to enroll in the NCATS-sponsored clinical trial for cyclodextrin. This will allow us to test these kids before and throughout the course of treatment to help quantify the effects of cyclodextrin on neural function. We intend on collecting EEG, behavioral, cognitive assessment, and genetic data from at least 15 NPC patients at three separate time points. This will allow us to begin to characterize basic sensory processing and multisensory facilitation (i.e. effective sensory transmission and neural connectivity) in NPC. By re-testing these children as they go through cyclodextrin treatment we will also be able to study the direct effects of the drug on the brain -- probing both for benefits and potential risks.Objective neurobiological markers against which to test the efficacy of therapeutic interventions are
sorely needed in NPC disease. These measures proposed here are considerably closer to effects of a given intervention in that they are directly measuring brain activity and are exquisitely sensitive to changes in the integrity of signal transmission through the cortical hierarchy. One would fully expect that changes in brain electrical activity would substantially precede measureable changes in behavior or the clinical phenotype. That is, new or improved behaviors can only be learned once there has been some rescue of neural function and this learning will likely proceed over a protracted timeframe, whereas the neural changes/rescue, if present, should be evident considerably more rapidly. On the other hand, this measure may also serve as an early direct neural-marker of potential adverse effects of novel pharmaceutical treatment. Only neural measures can effectively assess these possibilities and thus studying these processes in NPC patients before and after treatment could greatly benefit the community. Additionally, the portability of our EEG system and the low cost of our measures (in terms of time, money, and invasiveness) make it easily deployable at our lab and on the road, reducing the burden on patients and families. Although we will invite participants to our lab, we will also bring the lab to them -- at NIH and beyond. Further, this project will also clinically characterize the cognitive profile of all NPC participants through neuropsychological testing -- using measures of verbal intelligence, problem solving, abstract thinking, and vocabulary, as well as assessments of receptive and expressive language. This is of benefit to the community since these have not been comprehensively described in the literature.
- Visit the Fellowships jointly sponsored by the NNPDF and CCNNPDF as well as
Research Grants jointly sponsored by the NNPDF and CCNNPDF pages for additional information on all of our Fellows.
Niemann-Pick Disease Facts
~ Day 16 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 16th, 2014 ~ blg]
Dear NNPDF Families and Friends,
As we continue our focus on foundation funded research this week, the 15th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, we are highlighting another 2014 research award recipient. The National Niemann-Pick Disease Foundation (NNPDF), along with the Canadian Chapter of the NNPDF, are pleased to announce to our NPD communities in the United States and Canada ~ the 2014 recipients of the Peter G. Pentchev & Edward H. Schuchman 2014 Fellowship awards and grants!
Due to the tireless efforts of our US & Canadian NPD family membership over fiscal year 2013, the foundations will be supporting four new research fellowship and scientific grant laboratories associated with Niemann-Pick Disease. To learn more about the NNPDF & CCNNPDF Research Funding Strategies ~ please follow this link: /NewsLinePage.html#Oct13
Xutian Jiang, Ph.D.
Full Biography ~ Click HereFor Day 15, we turn our focus to the announcement of a research grant award in support of our NPD Type C (NPC) community through the funding of scientific efforts to develop a diagnostic test for NPC screening in newborns. Dr. Xutian Jiang, Ph.D from Washington University in St. Louis is the grant award recipient and Principal Investigator of this work.
Project Title:
"Development of a diagnostic test and newborn screen for Niemann-Pick C disease"A major barrier to delivery of effective treatment for NPC disease has been significant delays in diagnosis (> 5 years) due to the lack of an inexpensive, reliable and easy to use test for diagnosis. We have developed a highly sensitive and specific clinical diagnostic assay for NPC disease based on an oxysterol biomarker. This assay is at various stages of implementation in nearly a dozen laboratories worldwide and is replacing filipin staining of fibroblasts as the diagnostic standard. Our continued biomarker efforts have led to discovery of an even more sensitive blood marker that may have significant advantages over the oxysterol marker, including ease of detection and simplification of the diagnostic assay. The latter will help with dissemination of the assay into clinical laboratories and accelerate adoption of this new blood test. This new blood marker also has significant potential to facilitate development of a newborn screen. A newborn screen would enable for the first time routine initiation of drug therapy in pre-symptomatic NPC patients, the group that would benefit the most from early medical treatment.
- Learn more about Dr. Jiang on the Washington University web site
- Visit the Fellowships jointly sponsored by the NNPDF and CCNNPDF as well as
Research Grants jointly sponsored by the NNPDF and CCNNPDF pages for additional information on all of our Fellows.
Niemann-Pick Disease Facts
~ Day 15 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 15th, 2014 ~ blg]
Dear NNPDF Families and Friends,
On the 14th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, the National Niemann-Pick Disease Foundation (NNPDF), along with the Canadian Chapter of the NNPDF, is pleased to announce to our NPD communities in the United States and Canada ~ the 2014 recipients of the Peter G. Pentchev & Edward H. Schuchman 2014 Fellowship awards and grants!
Due to the tireless efforts of our US & Canadian NPD family membership over fiscal year 2013, the foundations will be supporting four new research fellowship and scientific grant laboratories associated with Niemann-Pick Disease. To learn more about the NNPDF & CCNNPDF Research Funding Strategies ~ please follow this link: /NewsLinePage.html#Oct13
Melissa P. Wasserstein, MD
Full Biography ~ Click Here
First on the docket, is a research grant award in support of our NPD Type A & B (ASMD) community through the funding of a research study to describe the natural history of NPD type A and B with Dr. Melissa Wasserstein, MD at the Mt. Sinai School of Medicine as the Principal Investigator.
Project Title:
"Niemann-Pick Disease: Genotype/Phenotype Analyses and Molecular Based Therapy"
Principal Investigator: Melissa Wasserstein, MD
Co-Investigator: Natalie Lippa, MS, CGCBackground: Niemann Pick Disease (NPD) type A and B is a rare disease caused by a deficiency in the acid sphingomyelinase enzyme. The deficiency causes a buildup of a lipid (or fat) which affects organs in the body. It is a change (or mutation) in the gene, called SMPD1, which causes the enzyme deficiency. Type A NPD is a severe neuronopathic disorder which leads to death by three years of age. In contrast, patients with Type B NPD have little or no neurologic involvement and usually survive into late adolescence or adulthood. Currently, there is no FDA approved treatment for types A or B NPD.
Principal Investigator: Dr. Melissa Wasserstein has served as Director of Mount Sinai’s Program for Inherited Metabolic Diseases, one of the largest metabolic disease treatment programs in the country, since 2005, overseeing testing, diagnostic evaluation, counseling, and long-term medical management of hundreds of infants referred each year by the New York State Newborn Screening Program.
Dr. Wasserstein is the Director of the Program for Inherited Metabolic Diseases; Medical Director of the International Center for Types A and B Niemann Pick Disease; Associate Professor in the Department of Genetics and Genomic Sciences and the Department of Pediatrics; Mount Sinai School of Medicine
Purpose: The purpose of this research study is to describe the natural history of NPD type A and B. Another goal of this research is to analyze the types of genetic mutations that cause NPD type A and B and determine how this affects disease course. In addition, we hope to characterize the spectrum of pediatric disease in presymptomatic infants with NPD type A and B identified through an NIH funded pilot newborn screen.
Methods: The research will take place in the International Center for Types A and B Niemann-Pick Disease, at the Icahn School of Medicine at Mount Sinai. Dr. Melissa Wasserstein will be the principal investigator and medical director. Natalie Lippa is a certified genetic counselor who specializes in NPD type A and B and will be the co-investigator for this study.
- For more detail on her application and the lay-summary description of the project ~ please follow this link.
- Learn more about Dr. Wasserstein on the Mount Sinai Center web site
- Visit the Fellowships jointly sponsored by the NNPDF and CCNNPDF as well as
Research Grants jointly sponsored by the NNPDF and CCNNPDF pages for additional information on all of our Fellows.
Niemann-Pick Disease Facts
~ Day 14 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 14th, 2014 ~ blg]
Dear NNPDF Families and Friends,
As we all work to usher in this third week of October and the 13th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, will focus on an IMPORTANT role which the National Niemann-Pick Disease Foundation (NNPDF), in collaboration with the Canadian Chapter of the NNPDF plays in the area of forwarding NPD research. The collaborative efforts of the NNPDF & CCNNPDF towards empowering all of our family memberships fundraising.
In early 2014, the NNPDF and CCNNPDF research committee members reviewed the existing research funding strategy and produced a new strategic plan for research. Account was taken of the needs of our Membership; current knowledge in the field of Niemann-Pick Disease; the funding strategies of other NPD organizations; and the advice and expertise of the members of the NNPDF/CCNNPDF’s Scientific Advisory Board. The new research strategic plan was put in place for the 2014 funding cycle after it was approved by the Board of Director’s.
A key element to both foundations’ research strategy is the ability to track funds raised within the communities of our family membership. Great care is given to identify all monies received at the NNPDF/CCNNPDF Central Offices through family fundraising efforts so that a specific designation by disease type and a restriction towards research can be made. The NNPDF/CCNNPDF is proud to ensure our family membership that 100% of the funds raised through their community events are directed towards NPD research !
As a result we are pleased to announce that the NNPDF/CCNNPDF will fund again fund Pre-Doctoral, Post-Doctoral and Early career investigator fellowships in all areas of promise - basic, translational and clinical research- with regards to Niemann Pick Disease for the 2014 – 2016 funding cycle. The NNPDF strives to enable promising new researchers to make a career in the field of Niemann-Pick Disease, thus providing for a new generation of scientists to accelerate the pace of NPD research.
Due to the tireless efforts of our NPD family membership over 2013, the foundations will be supporting four new research fellowship and scientific grant laboratories associated with NPD. We will highlight the specific grants and the program details over the next week ~ one grant tied to the medical/clinical support of NPD Types A & B (ASMD) families and three fellowship grants with focus on NPC.
It is important to note that none of this would be possible without the continued support and personal Perseverance of our NPD family membership on behalf of your loved ones affected by Niemann-Pick Disease.
Dr. Dan Ory, a current NNPDF/CCNNPDF Scientific Advisory Board member & past SAB Chair (Sept. 2007 ~ Jan. 2014), took time to reflect on the scientific and research vs patient advocacy collaboration reflected within the Niemann-Pick Disease Community and stated:
"The NPD community is one of the most collaborative there is. The level of idea/data sharing among scientists is remarkable. We are also a model for other rare disease with respect to our ability to accelerate work at the bench to therapeutics. And much of this had been made possible by the family-researcher partnerships that have sustained this work over the past 20 years. Through this remarkable collaboration and efforts a treatment for NPD is no longer a matter of “IF” but an issue of “WHEN”.
Niemann-Pick Disease Facts
~ Day 13 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 13th, 2014 ~ blg]
Dear NNPDF Families and Friends,
On the 12th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness month event, the NNPDF is promoting to our family membership two very specific NPD products which benefit the foundation!
Heartfelt thanks to support from NNPDF Board Member, Becky McGuire, in loving support of her cousin, Kelly Thompson (NPC), the NNPDF has our very own "Pandora-esque" bead for charm bracelets and a specific line of Bravelets jewelry.
“Persevere for Life” Pandora-esque Bead
Charm bracelets & necklaces have increased in popularity over the last few years, thanks in great part to the multitude of beads made available to represent an individual and mark memorable occasions which allows the final piece of jewelry to be unique to its wearer. Now you can add Niemann-Pick Disease Awareness to your, or a loved one’s, collection of charms and beads!
Thanks to Becky’s creativity, she drew inspiration from her cousin, Kelly, on this project, the NNPDF community has access to a Pandora-esque glass bead! This bead is compatible with Pandora, Chamilia, Biagi, Troll and most European bracelets.
The “PERSEVERE FOR LIFE” glass bead was designed to specifically incorporate the color of the National Niemann-Pick Disease Foundation’s NPD awareness hue of “Periwinkle Blue”. The addition of, “PERSEVERE FOR LIFE” etched onto the side of the bead speaks to our continued determination. The circular band designs intertwined together within the glass bead represent our perseverance in support of our NPD loved ones and our unrelenting pursuit towards a Quest for a Cure!
The cost for one bead is $30.00 with 100% of the profits being routed to the NNPDF.
To access the “Persevere for Life” Bead Order Form
Bravelets™ is a non-profit organization which offers individuals the ability to create jewelry that will inspire and raise awareness for the cause that touches their lives.
This beautiful jewelry will not only delight anyone who receives this gift, but it is also an eye-catching way to open up and promote discussions about Niemann-Pick Disease awareness.
For every piece of jewelry sold, a $10 donation will be routed to the foundation in our continued fight against the ravages of Niemann-Pick Disease!
- The women’s bracelet shown above is made of 316L stainless steel and genuine leather.
- The men’s bracelet featured here is dark brown bolo leather and smooth colored leather and the adjustable bracelet is made of braided cord and stainless steel.
- A wider selection of jewelry styles and types (ie: Necklaces, more bracelet designs, etc.) are available at the NNPDF Bravelets on-line shop!
To view the NNPDF Bravelets™ on-line shopBravelets™ are made to help you be brave during tough times.
Wear it proudly for yourself or for a loved one!
Niemann-Pick Disease Facts
~ Day 12 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 12th, 2014 ~ blg]
Dear NNPDF Families and Friends,
As we usher in the 11th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness Month event, our focus turns to the NNPDF “Persevere for Life” wristbands and how you can put them to good use towards raising NPD Awareness this October and year-round!
NNPDF Persevere Wristbands
The popularity of wristbands cannot be denied, as they are not only a simple way to promote your cause, but are a constant reminder of who we are fighting for in our Quest for a Cure!
The updated NNPDF wristbands are embossed with the "Persevere for Life" statement into the band, these periwinkle blue wristbands are so versatile they can be used all year round as:
- Local fundraiser items to help build a sense of community, whether as saleable items, raffle prizes or donor & volunteer thank you gifts - all of which to help promote awareness.
- Distribute to your local school & community athletic teams in support of your child with NPD.
- Party favors in grab bags for birthdays or holidays.
- Stocking Stuffers!
- Crafters can put their own creative spin on them - why not link them together to make a holiday wreath?
- Purchase one for yourself “in Honor or in Memory of” a loved one as a lasting keepsake, while simultaneously helping to fund needed research.
YOU can help raise NPD Awareness during this GLOBAL event, while you are presenting family and friends with something that means so much more than a standard gift does…..
The “Gift of Hope” for a better tomorrow for all NPD patients and their families.
Click here to Order Your “Persevere for Life” Wristband!
*Youth & Adult Sizes Available
Niemann-Pick Disease Facts
~ Day 11 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 11th, 2014 ~ blg]
Dear NNPDF Families and Friends,
The 10th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness Month event, the foundation is highlighting our PersevereWEAR and the two ordering options available to our NPD families and friends! Standard PersevereWEAR or Custom “Event” PersevereWEAR are both easy to order and have on hand for your event.
Are you planning an NPD Awareness campaign and want to ensure that your event will stand out? Perhaps you just want to raise NPD Awareness while you are out and about? We have the solution for both events via our Standard and Custom “Event” PersevereWear.
While most people associate the “PersevereWEAR” with fundraising, they also make wonderful gifts for friends and family! Winter is upon us with the holiday’s right around the corner and a warm sweater can go a long way in keeping loved ones warm, while helping to raise awareness into Niemann-Pick Disease.
The Standard PersevereWear e-shop has a large selection of pre-made Persevere shirts & headgear available for purchase. These items were available for purchase at the 2014 NNPDF Family Support and Medical Conference, so if you did not have an opportunity to attend or if the shirt you wanted sold out, now is your chance to get it!
If you prefer, Frank ( [email protected] ), from Screen Designs, will assist our NPD families in designing a high quality custom products promoting your local event. Simply e-mail Frank and he will work with you directly to make sure your t-shirt, sweatshirt, caps, etc. are eye-catching and highlight your event from conception to the final printing process.
With “PersevereWEAR”, the possibilities are endless! Simply follow the link below to the SDP web site in to begin your shopping experience in support of the NNPDF.
Click here to order your PersevereWEAR!
“Persevere” and PersevereWEAR, which was originally designed and promoted by Lorna Tyrrell in support of her sweet little girl, Naomi (NPC, 08/18/02-07/06/12), has now grown to become the battle cry for all the families of the NNPDF. Over the years, “PersevereWEAR” clothing items have developed into a staple for fundraisers and our family membership alike. Not only is the wearer able to show their unending support of their loved one diagnosed with NPD but the clothing products also help to raise awareness into NPD. “PersevereWEAR” is an easy “and stylish” way to raise funds in support of the NNPDF’s service programs and urgently needed research.
Click here to order your PersevereWEAR!
NPD Performance Short Sleeve Shirt
Performance polyester & spandex sport shirt
Available Color : Sport Grey with black ink lettering
Sizes : Youth M, Youth L, Adult S, Adult M, Adult L, Adult XL, Adult XXL & Adult XXXL
NPD Short Sleeve Shirt
6 oz cotton short sleeve tee
Available Color : Ash, Black, Stone Blue, Rusty Bronze
Sizes : Youth M, Youth L, Adult S, Adult M, Adult L, Adult XL, Adult XXL & Adult XXXL
NPD Long Sleeve Shirt
6 oz cotton Long sleeve Tee. PERSEVERE Logo on Front and full back printed.
Available Color : Ash, Black, Stone Blue, Rusty Bronze
Sizes : Youth M, Youth L, Adult S, Adult M, Adult L, Adult XL, Adult XXL & Adult XXXL
NPD Hooded Sweatshirts
Heavyweight Hooded Sweatshirt. Printed with Persevere Logoon the front and Logo on full back.
Available Color : Carolina Blue, Sport Grey, Forest Green and Maroon.
Sizes : Youth M, Youth L, Adult S, Adult M, Adult L, Adult XL, Adult XXL & Adult XXXL
NPD Persevere Visor
Sport Visor with PERSEVER Embroidered on the front.
Available Color : Sand/Khaki
Sizes : One size
NPD Persevere Visor
Sport Hat with PERSEVER Embroidered on the front.
Black Hat with White Txtx
Available Color : Sand/Khaki
Sizes : One size
NPD Performance Sweatshirts
Lightweight Performance Hooded Sweatshirt. Printed with Persevere Logo on the front and Logo on full back.
Available Color : Sport Grey.
Sizes : Youth M, Youth L, Adult S, Adult M, Adult L, Adult XL, Adult XXL & Adult XXXL
NPD Crewneck Sweatshirts
Heavyweight Crewneck Sweatshirt. Printed with Persevere Logoon the front and Logo on full back.
Available Color : Carolina Blue, Sport Grey and Maroon.
Sizes : Adult S, Adult M, Adult L, Adult XL, Adult XXL & Adult XXXL
While most people associate the “PersevereWEAR” with fundraising, they also make wonderful gifts for friends and family! Winter is upon us and the holidays are right around the corner ~ a warm sweater can go a long way in keeping loved ones warm, while helping to raise awareness into Niemann-Pick Disease.
With “PersevereWEAR”, the possibilities are endless! Simply follow the link below to the SDP web site in to begin your shopping experience in support of the NNPDF.
Click here to order your PersevereWEAR!
Niemann-Pick Disease Facts
~ Day 10 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 10th, 2014 ~ blg]
Dear NPD Families and Friends
The 9th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness Month event, offers us the opportunity to highlight with our foundation membership just ONE of many ways in which the NNPDF is able to support NPD family fundraising and awareness campaign events throughout the year! If you've never done a fundraiser, or just want more ideas, then these fundraising “Recipes for Success” cards are for you!
~Recipes for Success ~ Fundraising Recipe Cards~
~Click Here for a full listing of Recipe for Success Cards!~
Have you been eager to host an NNPDF fundraiser of your own, but you don't know where to begin?
The members of foundation’s Development Committee created these "Recipe for Success" cards to assist you in planning a fundraiser that will be both fun and easy!
Each "Recipe for Success" card includes:
- A fundraising idea/example
- The items needed for planning the event, or in this case, "ingredients"
- A detailed description on how to make all your "ingredients" combine to create a successful fundraiser
- The contact name of an individual who has successfully held this type of fundraiser in the past. They will be able to “walk” you through the process in case you need additional help or have questions.
This is a time when ~ too many cooks in the kitchen ~ is a GOOD thing!
These cards were developed with assistance from NPD families who have not only hosted successful fundraising events, but also have invaluable experience in implementing the ideas presented on these “Recipes for Success” cards!
~Click Here for a full listing of Recipe for Success Cards!~
In addition, please visit the NNPDF Upcoming Events page to learn of what other events & fundraisers NPD families have done for additional ideas. Remember that ANY type of event which you are hosting for October as NPD Awareness Month can be sent to the NNPDF Central Offices to share with the entire NPD Community! We wish to celebrate your activities and wish to create excitement around all of these events. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
Niemann-Pick Disease Facts
~ Day 9 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
[Oct 9th, 2014 ~ blg]
Dear NNPDF Families and Friends,
On the 8th day of our GLOBAL October 2014 Niemann-Pick Disease Awareness Month event, we are focusing on the informational NPD Awareness products available.
Whether you are holding a fundraiser or wish to provide information for the general public, friends or relatives, the National Niemann-Pick Disease Foundation has a wide supply of informational products to help you raise NPD Awareness in your community!
These items are available to our NNPDF family membership at low donation costs and discounted shipping to encourage families to distribute these within their community through NPD Awareness campaigns and fundraising events. So, while brochures, flyers and newsletters are free of charge, we ask that a nominal donation and discounted postage rate for wristbands and posters to help defray the cost of printing and shipping.
Remember! If you are planning an event for October NPD Awareness Month please advise the NNPDF Central Office so that we can share it with the community on the NNPDF web site!
"Research is Our Only Hope" poster
"Apple" poster
"Chalkboard" poster
"DNA-Balls" poster
NNPDF Informational Brochures
NNPDF Brochures:
Informational brochures about Niemann-Pick Disease for ASMD (Types A & B) and for Type C.
Order Form
NNPDF Newsletter
(latest 2 issues)Winter 2011
Spring 2013
Order FormPeriwinkle Blue rubber bracelet
Front = "PERSEVERE FOR LIFE"
Back = "www.nnpdf.org"
Youth and Adult Sizes Available
Order Form
Niemann-Pick Disease Facts
~ Day 8 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 8th, 2014 ~ blg]
Dear NNPDF Family and Friends,
For Day 7 of October 2014 GLOBAL Niemann-Pick Disease Awareness Month ~ we are highlighting the Foundation's Equipment Exchange program, which assists our NPD families to obtain medical equipment that they may not have access to or which isn’t covered under medical insurance. In addition to providing these services, the NNPDF Central Office Staff also assists in finding new homes for medical equipment and supplies which families are no longer utilizing for their loved ones.
As the NPD patient and family needs change during a chronic illness, there may be equipment stored in homes no longer being used which could be put to use by another family in the foundation. Our goal at the NNPDF is to ensure that all NPD families have access to necessary medical equipment and supplied needed to assist their loved ones affected by Niemann-Pick Disease.
The foundation will post and manager a log on the foundation web site describing the type of available equipment, as well as note the specific medical equipment needs that a particular family may be searching for.
This program is being funded in large part by the Jami and Lisa Chavez family in memory of their daughter, Breann, who passed away from NPD Type C in June 2006, at the age of 3 years. The families annual "Ducks for Bucks" event generates the funds needed to offset the costs of shipping equipment from home to home.
1. Interested in Donating Medical Equipment and Supplies? Simply fill out this form and send to the NNPDF Central Offices.
2. In need of a specific piece of medical equipment? Visit the NNPDF Equipment Exchange page on the website to see what is available.
Recently, an NNPDF family donated over “10” items to the NNPDF Equipment Exchange program which they could no longer use and the NNPDF web page was updated. Within a few days another NPD family contacted the foundation and indicated an interest and need for some of the items to assist their son with NPC. We are happy to advise that these items were re-gifted to another NPD families home. Some of the “newly” posted items are still up on the web page which we were unable to match ~ you may wish to take some time to shop!
Niemann-Pick Disease Facts
~ Day 7 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 7th, 2014 ~ blg]
For Day 6 of October 2014 GLOBAL Niemann-Pick Disease Awareness Month ~ we wish to encourage all of those who have a loved one diagnosed with NPD to take part in the Genzyme's (A Sanofi Company)~Expression of Hope III (EOH). Genzyme's EOH III ~ supports all of our NPD Advocacy group like mission's to advance education and raise awareness into NPD in a collaborative effort globally. Won't you consider taking part in 2014? Let your artistic abilities SOAR in honor of your loved one diagnosed with NPD!
Better yet ~ be creative and support the artistic ability of a loved one living with Niemann-Pick Disease and assist them in creating a piece of art for submission!
Submit Your Artwork! Expression of Hope Now Open for Submissions ~ A GLOBAL program of awareness and inspiration featuring works of ary by the Lysosomal Storage Disorder Community!
The NNPDF, along with GenzymeWe are delighted to announce that the Expression of Hope III (EOH) program is now open for submissions. Expression of Hope is a global program of awareness and inspiration featuring works of art by the Lysosomal Storage Disorder (LSD) community. Artists of all ages and artistic ability -- including patients, caregivers, family members, friends, and healthcare providers -- who have been affected by an LSD can submit an original work of art that reflects their own individual story.
This unique program encourages anyone affected by a lysosomal storage disorder to create and submit a work of art that expresses their experiences of living with an LSD. Through the Expression of Hope program, Genzyme furthers its long-standin g history of collaboration with patient advocacy organizations around the world to help raise awareness and build a stronger global network of support for people affected by LSD's.
Expression of Hope 2009
Artist: Angel
Country: Taiwan
Condition: Niemann-Pick Disease
Artist Statement: "I am a fish, smiling with joy and happiness inward. Although I have been losing my health, I am still blessed, because I am loved by my family and friends from church. Their love not only colors my body, but also makes my world more beautiful. I will always keep my smile as repayment for their love."
Once an artist has completed a piece, it should be photographed and digitally submitted to the Expression of Hope website. All submitted works that meet entry criteria will be presented in the online gallery on the Expression of Hope website.
At the close of the submission period on December 5th , a panel of art professionals will then identify submissions to be designated as Featured Art, which will be displayed in global exhibits and materials in early 2015.
We are excited to now launch the third Expression of Hope campaign and hope that you will help us spread the word. If you represent a patient organization and would like to become a Collaborating Organization, please contact us at [email protected] .
Submitting your art piece is easy as 1-2-3!
Follow this link to submit your artwor k!
Niemann-Pick Disease Facts
~ Day 6 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 6th, 2014 ~ nmh]
Global Niemann-Pick Disease Awareness Month ~ Day 5 ~
"NPD Family and Friend's Letter"
For Day 5 of October 2014 as GLOBAL Niemann-Pick Disease Awareness Month, we wish to share an easy, tried-and-true, effective way for our NPD family membership to raise awareness and fundraise in honor or in memory of your loved one with Niemann-Pick Disease. Let the NNPDF staff at the Central Office help you to create a letter to mail out to family, friends, community supporters and local businesses!
If you've always wanted to fundraise, but haven't had the time or resources to hold an event, then creating a “NPD Family and Friends” letter is the way to go! Why? Because the NNPDF central office staff will assist you with the details and provide you with everything you need for a successful NPD Awareness Campaign!
Here is how it works:
- Simply complete the family questionnaire and return it to the NNPDF Central office (via fax, e-mail or snail mail!)
- We will then customized the letter with your family details, photos and information, once approved by you, the customized letter will be printed and shipped to you along with:
- NPD informational brochures (specific to the disease type affecting your family)
- NNPDF remittance return envelopes & labels indicating the name of your loved one and the reason for the donation (ie: In support of October NPD Awareness month, a birthday, an anniversary, a special accomplishment, etc.) This will ensure that when the remittance envelope is returned to the NNPDF Central Offices with a donation, we are able to designate it as a result of your family letter and in honor or in memory of your family member.
- All you need to do is address your envelopes, add postage, your return address labels and mail them out!
Here are some great examples of a successful friends and family letters completed by NPD families in the past:
- The Minde Family : A Canadian families letter in loving support of baby Tehyez’s diagnosis ~ NPA.
- Melissa Higgins: NPD Type B Adult; Letter to her family and community informing of NPB.
- The Heinze Family: In recognition of their children’s diagnosis: Tyler, Faith and Katie ~ NPC.
- The Kaflowitz Family: In celebration of daughter Rachel's 29th birthday ~ NPC.
EXTRA ~ EXTRA ~ Read all about it!: Rachel’s Mom, Debbie, also gave a presentation to our NPD family membership at the 2014 NNPDF Annual Family Support and Medical Conference about her reluctance to “dip her toe” into the world of fund raising. Debbie shared her experience and results of taking on the challenge of creating a “NPD Family and Friends Letter” project ! Read her presentation here . By the way, sincere thanks and gratitude go out to Debbie for both doing a “NPD Family and Friends Letter” to benefit the NNPDF and for sharing her experience with the NNPDF family membership at the San Francisco, CA family conference! It is so very appreciated.
Let us help you ~ if you have questions, or would like to discuss doing a mailing feel free to contact us at the office. [email protected] or call: 920-563-0930.
Niemann-Pick Disease Facts
~ Day 5 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 5th, 2014 ~ nmh]
Global Niemann-Pick Disease Awareness Month ~ Day 4
Dear NNPDF Families and Friends,
To usher in Day 4 of October 2014 as GLOBAL Niemann-Pick Disease Awareness Month, we are asking that our entire Niemann-Pick community reach out to your State Governor’s offices early in October and request that the month of October 2014 be declared as Niemann-Pick Disease Awareness month in your state on behalf of your loved one with NPD.
It’s easy! To find out how to request a proclamation in your state ~ first, try a simple Google Search indicating your state of residence and the words: Governor’s Proclamation (ie: State of Wisconsin Governor’s Proclamation). This search should give you a direct link to the guidelines and necessary contacts associated with your state to request a proclamation on-line. If you have trouble finding the on-line form then call the Governor’s Office or Mayor’s Office and ask who handles requests for proclamations and what information they need.
Click here for a list of representative contacts and guidelines for state proclaimations
(includes websites where you can fill out Proclaimations questionaires online)We have included a sample letter and outline here which will walk you through the process. Update and change the specific details to reflect your own family story, submit your request and follow-up with a call as to the status of your request.
Once you are successful and receive a proclamation, be sure to make a BIG DEAL of it ~ notify the press, frame the proclamation and give the newspaper a “photo opp” with your family and a story associated with the proclamation. Ask if a government representative can attend, and make sure to get photos and your family story get into the media.
Please be certain to advise the NNPDF Central Office so that we can share this news with the wider NPD Community!
Niemann-Pick Disease Facts
~ Day 4 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White (loving Mom of Jonathan Spencer, NPC) for creating these amazing NPD fact sheets. These daily facts help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October ~ so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal of a NPD October Awareness event being held in each state within the US? Contact: [email protected] .
[Oct 4th, 2014 ~ blg]
Global Niemann-Pick Disease Awareness Month ~ Day 3
Dear NNPDF Families and Friends,
With the arrival of “Day 3” as Global Niemann-Pick Disease Awareness Month ~ the National Niemann-Pick Disease Foundation (NNPDF), along with our sister chapter, the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) are pleased to share with our family membership that the NNPDF & CCNNPDF in a collaborative project have been advised that we are 2014 award recipients of a Genzyme “Patient Advocacy Leadership” (PAL) award grant!
Nadine Hill, NNPDF Executive Director, wrote a grant to the Genzyme PAL program on behalf of both the Niemann-Pick Disease patient advocacy groups in the United States and Canada in support of a Board of Director’s training program ~ titled: NNPDF & CCNNPDF ~ Bridging the GAP to the Future.
NNPDF & CCNPDF Awarded
Genzyme "Patient Advocacy Leadership" (PAL) Award GrantRealizing the “ever-changing” landscape that all NPD foundation’s will be facing in the future with clinical trials and new therapies for our patients, as well as, understanding that board development is a KEY factor to the ongoing success of both foundations ~ Nadine wrote a grant addressing the following foundation program needs:
National Niemann-Pick Disease Foundation – Canada and the United States
Bridging the GAP to the Future: a two day training session for board members which will include topics such as best practices in governance, roles and responsibilities of effective boards, the board/staff partnership, and other critical topics. The ultimate goal of the training is to allow the board to be more effective at meeting the needs of family members and constituents as they move through clinical trials working towards appropriate treatments and therapies.
Click here to read the full Genzyme press release!
The Board of Director’s for both country foundations will be working collaboratively to develop this training program associated with this generous grant and look to the future towards planning the meeting in 2015 on behalf of our foundation family members!
Niemann-Pick Disease Facts
~ Day 3 ~
The NNPDF would like to send heartfelt thanks to Rebecca Spencer-White for creating these amazing fact sheets which help to raise awareness into Niemann-Pick Disease and educate the wider community! We will share one fact every day in October, so keep an eye out for more to come!
To find out how YOU can help raise awareness into NPD this month, drop by the October 2014 GLOBAL Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here. /OctoberAwarenessMonth2014.htm
GLOBAL October Niemann-Pick Disease Awareness Month has arrived and this is YOUR opportunity to reach out to your family, friends and community members and find the opportunities to help raise Awareness into Niemann-Pick Disease!
Every day in the month of October we will be sharing a plethora of ideas and ways in which you can be an active participant. We will highlight special events, fundraising ideas and successful family activities and ideas to assist you in keeping the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that ANY type of event which you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community ~ we want to create excitement around this event. Won’t you help us in our goal? Contact: [email protected] .
[Oct 3rd, 2014 ~ blg]
Global Niemann-Pick Disease Awareness Month ~ Day 2
Dear NNPDF Families and Friends,
Global October Niemann-Pick Disease Awareness Month has arrived, and with it comes more opportunities than ever before to help raise Awareness!
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
National Niemann-Pick Disease Foundation
Feature Article in Lysosomal Disease Network's Indications Newsletter
The National Niemann-Pick Disease Foundation is pleased to share with the NPD community the October 2014 issue of the Lysosomal Disease Network (LDN) monthly online newsletter, “INDICATIONS”. The NNPDF is highlighted in the "Meet Our Patient Advocacy Groups" section, which covers the work of the foundation as a it relates to who we are, what we do and just how far we have come since the foundation was established in 1992!
The article was written by Evelyn Redtree, writer & editor of the LDN 'Indications' newsletter. Evelyn nterviewed key NNPDF staff, Board of Director's, researchers and scientists to create a complete history behind the foundation, the research goals you, our community, have helped us reach. Other topics discussed in the article are related to:
- Patient Advocacy Support
- Research and the SAB
- Current Clinical Trials
- Meeting the Experts
- Checking your knowledge on Niemann-Pick Disease
Please follow this link to see and read the “INDICATIONS” newsletter:
http://lysosomaldiseasenetwork.org/indications/october2014/Indications_October_2014.pdf
Niemann-Pick Disease Facts
~ Day 2 ~We want to thank Rebecca Spencer-White for creating these amazing fact sheets to help raise awareness and educate! We will share one fact every day in October, so keep an eye out for more to come!
To find out how YOU can help raise awareness this month, drop by the 2014 October Niemann-Pick Disease Awareness page. The NNPDF is here to help and support you with these events, ideas and providing educational materials in raising NPD awareness ~ see all that the NNPDF has available to assist you here.
Global October Awareness Month!!
Dear NNPDF Families and Friends,
It's here! October Awareness Month begins today and with it comes more opportunities than ever before to help spread Awareness!
To kick off October Awareness month, we are pleased to share with the community that the National Niemann-Pick Disease Foundation is working collaboratively with the Canadian Chapter of National Niemann-Pick Disease Foundation as well as Niemann-Pick United Kingdom advocacy group to introduce our first GLOBAL Niemann-Pick Disease Awareness month!
In support of the global collaboration between Niemann-Pick Disease patient advocacy groups we have designed the following international graphics which can be customized by participating country.
The NNPDF Central Office utilized the three unique logos identifying each participating NPD advocacy foundation. (NNPDF Persevere for Life Tree, UK’s Sunrise logo & The CCNNPDF’s Maple leaf) and combined them together to show our unity and inspire all of our NPD families to come together globally. To help you raise awareness this month, we have customized these for our US, Canadian, & UK families.
For more information on how we can create a custom Facebook cover and icon for you,
visit our social media signature page:
/documents/NNPDFE-mailsignaturelineinstructions_000.html#Oct2014We've also put together a e-newsletter to share fundraising ideas and highlight special events throughout October to keep the momentum going locally as well as on social media. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Highlights of this e-newsletter include:
- Global October Awareness Month
- 1-2-3 Awareness ~ Custom Facebook cover and Icons
- Awareness Items
- Fundraising Tips and Suggestions
- Lysosomal Disease Network Article on the history of the NNPDF!
Click Here to view the October Awareness Month e-Newsletter!
[Oct 1st, 2014 ~ blg]
September 2014 NNPDF e-Newsletter
September 2014 NNPDF e-Newsletter now available! Highlights include:
- October Awareness Month Preview
- "Think Again. Think NPC."
- NNPDF Equipment Exchange
- Family Service Resource ~ Family Voices
- Clinical Trial Updates
- Recording of Board Membership Conference Call from August 28th
- Family Conference Recap ~ Photos
[September 16th, 2014 ~ blg]
National Institutes of Health
|
Update from Dr. Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHDThe NNPDF central offices received the following update from Dr. Forbes D. Porter to share with the NPC community with regards to recent developments in reference to the Histone Deacetylase Inhibitors (HDACi) ~ vorinostat clinical trials for NPC adults.
We are pleased to inform the NPC community of an upcoming clinical trial at the NIH to study the safety and tolerability of vorinostat in adults with Niemann-Pick disease, type C1. We plan to begin enrolling patients in September 2014.
This clinical trial is an open label study for 12 patients. “Open label” means that every patient will get vorinostat. There is no placebo, or sugar pill, in this study. Patients will come to the NIH for a total of 3 visits - at baseline, 3 months and at 6 months for this trial. Each visit will last for about 7-10 days. Patients will start taking the study drug while they are at the NIH and will continue taking the study drug when they return home. They will also need to have blood drawn for safety labs every two weeks between visits while they are at home. After the 6 month visit, they will stop taking the study drug and they will be done with the trial.Vorinostat is a pill that is taken by mouth. The purpose of this study is to test the safety and tolerability of vorinostat when it is given to adults with NPC1. Patients will have blood drawn and will have a lumbar puncture (spinal tap) to collect spinal fluid at each visit to measure how much of the drug is absorbed. Patients will also have tests of hearing, speech, swallowing and movement.
For the full press release and more information on the clinical trial and eligibility criteria for NPC adult patients, please refer to the NNPDF HDAC Inhibitor clinical trial page.
Dateline: September 12th, 2014
Ara Parseghian Medical Research Foundation (APMRF):The FDA has granted an Investigational New Drug exemption to the APMRF that will allow us to study the safety and potential biochemical efficacy in adult patients with NPC1. The study will enroll 12 NPC1 patients. Although the IND exemption does not allow us to test vorinostat in children with NPC1, this exemption will save significant time and expense in obtaining proof of concept data. Working together, this collaborative group hopes to advance our understanding of the potential of an HDACi to treat individuals with NPC. Greg Crawford, Dean of the Notre Dame College of Science, in conjunction with APMRF have raised $500,000 to facilitate this work. Merck has graciously agreed to provide the drug supply for the trial.
[Sept 12th, 2014 ~ blg]
Orphazyme ApS (LLC)
Clinical Trial Updates for Niemann-Pick Type C Disease
September 8th, 2014
Update from: Anders M. Hinsby
Orphazyme Chief Executive Officer
Dear NNPDF Families and Friends,
The National Niemann-Pick Disease Foundation is pleased to share with you the following announcement received from Orphazyme ApS of an upcoming clinical trial for Niemann-Pick Disease Type C. Orphazyme ApS (Copenhagen, Denmark) develops new therapies for the treatment of rare and genetic diseases.
To view the official announcement as provided to the NNPDF visit the Orphazyme page: http://www.nnpdf.ca/Orphazyme.htmlAs more information becomes available we will continue to update the NNPDF web site as well as our social media sites. Please refer to Orphazyme's website for additional information: http://www.orphazyme.com/
[Sept 8th, 2014 ~ blg]
Think Again. Think NPC Campaign
A major hurdle we learn of time and again from our NNPDF family membership is the challenge to a diagnosis. Due to this, Niemann-Pick Type C takes, on average, five years to diagnose. Because NPC is treatable this means that patients live for five years without treatment or access to support.
Think Again. Think NP-C is a campaign identified and developed by the International Niemann-Pick Disease Alliance (INPDA), co-founded by the National Niemann-Pick Disease Foundation (NNPDF), to reduce the time to diagnosis by supporting healthcare professionals who are unfamiliar with NP-C to recognise the key signs and symptoms of the disease. This will help patients by speeding up diagnosis so patients can access treatment and support.
Early diagnosis means patients can access support, which can improve their quality of life and the lives of those around them. Early diagnosis is also important as NP-C is a treatable disease. Treatment can help to manage the symptoms and can slow down the progression of the disease.
Today, we're taking the first step towards rolling out this campaign aimed at healthcare professionals. It is YOU, our NNPDF Family Membership that play a major role on ensuring that the NP-C community is able to create the ground swell support neccesary to reach out to medical professionals beyond your community and indeed worldwide.
We are pleased to share the below social media links and impactful three minute Think Again. Think NPC video with our NPC community as we kick-off this campaign to help spread awareness.
Follow Think Again. Think NP-C on Twitter
Follow Think Again. Think NP-C on Facebook
Subscribe to Think Again. Think NP-C on Youtube
Visit TheThink Again. Think NP-C WebsiteThe NNPDF central office is working on step by step goals for a families to build upon this campaign in September, as well as key focus during October Awareness Month.
We WILL Persevere in our quest for a cure!
[Sept 2nd, 2014 ~ blg]
Request for Applications
University of Pennsylvania
~ Center for Orphan Disease Research and Therapy ~
NPC Postdoctoral Fellowship and Pilot Grant
The NNPDF Central office staff recently learned that due to the “herculean efforts” of family members of the NNPDF who took part University of Pennsylvania’s “Dollar for Dollar Match” ~ Million Dollar Bike Ride in early May to benefit the Center for Orphan and Disease and Research and Therapy ~ that the University has announced two “Requests for Applications” (RFA’s) associated with Niemann-Pick Disease Research. The RFA specifies a $50,000 NPC Pilot Grant and a $35,000 Postdoctoral Fellowship Grant for NPC research will be awarded. To reach this goal, each family created a “Bike Team” in honor/in memory of their loved one(S) diagnosed with Niemann-Pick Disease Type C.To view the Million Dollar Bike Ride event whose efforts made this funding possible, click here
Click here for details on application eligibility, instructions & deadlines.
This is indeed wonderful news for all of our NPC families and researchers a-like, as the members of the NNPDF Board of Director's, with support from our esteemed Scientific Advisory Board Members voted to fund three Niemann-Pick Type C laboratories, as well as an Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease) grant. Further details will be forthcoming once contracts have been signed.
A very special thank you to the four key families who spearheaded this event, Coppola, Hosinger, Mayo, and Reedy ~ and all those who participated in the race. The advancement of research for Niemann-Pick Disease would not be possible without the support of the entire NPC community.
Patients, families, researchers, doctors and community members ALL continue to come together for a common cause and a common goal towards NPD research.
We WILL Persevere in our Quest for a Cure!
[Aug 29th, 2014 ~ blg]
Message from NNPDF Board of Director's
NNPDF Membership Conference Call
Thursday, August 28, 2014
To: NNDPF Members, Families, Scientific Advisory Board and Affiliated Organizations and Individuals
From: NNPDF Board of Directors
The NNPDF Board of Directors invite you to join our conference call on Thursday, August 28 at 7:30 PM Eastern, 6:30 PM Central, 5:30 PM Mountain, 4:30 PM Pacific. Participating in this call will not incur phone charges for the participant. The conference call is scheduled for one (1) hour. Identifying a time that would accommodate everyone is quite challenging, therefore, the call will be recorded and available for those that are not able to participate. We will provide a link to the recording and post it to the NNPDF web site within a few days after the conference call. Directions to access into the conference call are included below. The conference call will accommodate up to 100 phone lines, on a first come, first serve basis.
In recent weeks there have been concerns that have been brought to the attention of the NNPDF community by a past NNPDF Board member. These concerns include the financial policies and procedures of the NNPDF, a financial review that was conducted in April, 2014 and the performance of a specific NNPDF office staff employee.
The purpose of the conference call is to address these concerns and to provide you with the confidence that the NNPDF is financially sound, that the NNPDF Board and office staff are committed to the Foundation’s mission and that the Foundation is in compliance with its 501(c)(3) obligations as a charitable organization. We trust that after you learn the Board’s position as to these concerns that the NNPDF Board and NNPDF office staff members will be able to and should move forward with the Foundation’s mission in identifying a treatment and a cure for NPD.
We strongly encourage you to either participate by joining the conference call or listing to the recording.
Thank you.
~NNPDF Board of DirectorsToll Free Numbers for August 28th, 2014 Conference Call
Int'l Toll: 719-325-2175US/CAN Toll free: 877-397-0300
Participant Passcode (all): 781671
Participant Access Instructions - Dial in 5-10 minutes prior to start time using the Participant Phone Number and Participant Passcode.
Int'l toll free - Argentina :
0800 666 3168Int'l toll free - France:
0 800 908 251Int'l toll free - Germany:
0 800 181 9045Int'l toll free - Greece:
00 800 161 2205 5966Int'l toll free - India:
000 800 1006 982Int'l toll free - Italy:
800 873 746
Int'l toll free - Japan:
00531 16 0846Int'l toll free - Netherlands:
0 800 023 5307
Int'l toll free - Spain:
900 947 606Int'l toll free - Switzerland:
0 800 564 399
Int'l toll free - United Kingdom:
0 808 101 1148For more International toll free numbers: Click here
[Aug 25th, 2014 ~ blg]
22nd Annual NNPDF Family Support and Medical Conference
First Time Attendee Perspective and Recap
Sarah & Josh Brooks with their son Jacob (NPA/B ~ Sept 20th, 2010 - Nov 15th, 2012)
We wish to thank all of those NNPDF Families and Friends who joined us in San Francisco for the 22nd Annual NNPDF Family Support and Medical Conference! A very special thanks to our wonderful conference hosts, the Patterson-Martin, Spencer-White and Teller families, for all the hard work, prep and dedication that they put in. The feedback has been positive and the discussion of experiences while there inspires us each year to create an experience that, like our NPD loved ones, is unique.
The San Francisco conference, with it's numerous research and clinical trial updates, truly embodied the 2014 conference theme of Bridging the Gap to the Future. It really is no longer a question of IF, but an issue of WHEN!
Sarah and Josh Brooks attended for the first time this year and were kind enough to share with us their experience. Initially with some apprehension, but ultimately coming away with an experience and new friendships they'll never forget. With their permission, we'd like to share their blog post with you.
Sunday, August 10th, 2014
NNPDF Conference 2014
Last week Josh, Kelly and I attended the 22nd annual National Niemann-Pick Disease Foundation (NNPDF) family conference. We have wanted to attend since Jake was diagnosed with Niemann-Pick Disease in 2011; unfortunately, timing, declining health, and travel to the East Coast just weren't in our favor. Thankfully, a mere three weeks from my due date, we were fortunate that the conference took place in the San Francisco Bay Area (a short hour drive from us), so that we could attend. The conference happened to fall amidst Josh's birthday and although we knew it wouldn't exactly be the most joyous of occasions, we felt a strong desire to be present and represent the type A kiddos. Jakey and all the other NPA affected children need us to continue to be the advocates for treatments and a cure, so that other children/families don't have to experience what we have gone through.
I honestly cannot say that I was excited to attend the conference, but I knew in my heart it was where we needed to be. That said, I was most certainly anticipating the opportunity to finally meet in-person many of the families that we've mostly only connected with via social media, especially the Laffoon family ( Wylder's parents and little brother). The Laffoon family has created the Wylder Nation Foundation , which aims to "accelerate the discovery and treatment options for children with lysosomal storage disorders." We had been waiting to hear more about the amazing efforts they're putting forth in honor of their son. We also met the Hopkin family, whose son Garrett has NPA. It was actually the first I had heard about Garrett, so I think I speak for both Josh and I when I say that we were really taken back to meet another adorable boy affected by this disease. Kelly, being a one-year-old, was quite taken with Garrett's Mickey Mouse attire and enjoyed chasing him around.
Before the conference, we had only ever met one family/child affected by Niemann-Pick - Amber Jelsma and her parents. Given the rarity and severity of the disease, it's an extremely rare occurrence for two NPA children to meet in person. To our knowledge, there are currently only four children in the world (yes, world) living with NPA; two in the United States, one in Russia, and one in Portugal.
Frankly, this type of conference isn't one that any parent or family member would have the desire to attend. It's not the typical parental connection that most people are familiar with, like PTA meetings, little league, or park play dates. Our connections are much deeper, rooted in the care of our children who have been devastatingly affected by a horrible disease that we all hate! These families have offered us a level of emotional support that few others have been able to, because they understand firsthand what we've gone through and will continue to live with for the rest of our lives. It's hard to describe, but it was a very fulfilling experience to connect with other families and be able to talk so openly about our experiences, as well as share memories of our children. For us, this was the most beneficial reason for attending.
The more scientific and medically-based focus of the conference was also helpful, as was the opportunity to speak with physician specialists. We also heard from representatives from the FDA and Genzyme, one of the world's leading biotech companies. There are clinical trials underway for enzyme replacement therapy to treat Acid Sphingomyelinase Deficiency (ASMD), which is what many of us more commonly refer to as Niemann-Pick type A and B. There is a disease spectrum that presents itself in variable forms, with rapid, progressive, neurologic decline in the most severe forms of the disease [the form Jake had] to less-severe/moderate forms of the disease that affect those during childhood with little-to-no neurologic decline. We met adults with the disease who are currently in the trial at Mount Sinai in NY, where we took Jake to be evaluated. At this time, the focus really seems to be on the treatment of non-neurologically impacted adult patients with pediatric trials to start in 2015. Initial feedback is very positive, but official trial results have not yet been published. There remains the issue of crossing the blood brain barrier, so those with neurologic decline are excluded from the trials at this time. While it's great to know that progress is being made in the right direction, it's simultaneously frustrating and disappointing to hear that there still is no option for children like Jake who are suffering more from the neurologic decline of the disease. There is most certainly a need for continued research and development for NPD. That said, we are even more encouraged by the efforts of Wylder Nation Foundation that are helping to drive focus and resources toward accelerating treatment options for ASMD.
Hopkin, Laffoon and Brooks Families.
Photo cred: Levi Gershkowitz ~ his Living in the Light of Rare and Orphan Diseases project is truly inspiring. He was kind enough to take a group shot of our families, as part of the photo documentation of the annual conference.
Candle lighting ceremony in memory of all those who have earned their angel wings over the past year. Incredibly emotional, but signifies the exact reason we all need to be together in support of each other and a cure for NPD.
Two very special NPA angels honored during the candle ceremony ~ Amber Jelsma and Quinn Linzer.
Kelly dancing the night away with her new friend Kalia, who was super sweet and helped us round miss Kelly up quite a few times. Kalia has NPD type B and we met her parents during the conference.
Overall, we are so very glad we had the opportunity to attend the annual NNPDF Conference and plan to attend in future years. We feel we owe this to Jake and ourselves to remain active participants in the NPD community, so that we can help support other families and more importantly, support the continuation of research & development for NPD treatments and one-day a cure.
Posted by Sarah at 12:45 AM: The Joy of Jacob Blog
The NNPDF Staff would like to encourage anyone who attended this year's conference to share their experiences with us, as well as the community.
We'll be following up shortly with more of a recap, including pictures and presentation details. If anyone has photos they'd like to share, feel free to send them to: [email protected] .
Our Families and Friends of the NNPDF took time during the Family Conference in San Francisco, CA to remember those loved ones who passed away from Niemann-Pick Disease throughout the last year.
Click here to watch the Memorial Presentation Video presented at the
NNPDF Family Conference in San Francisco, CA.
[Aug 14th, 2014 ~ blg]
Malinda M."Mindy" Fagan
11/06/1998 ~ 07/23/2014
Mindy Fagan ~ NPC
Dear NNPDF Families and Friends,
It is with heartbreak and sadness that we share word from the home of Ronda and Allen Fagan that their sweet and high spirted daughter, Mindy Fagan, lost her battle with Niemann-Pick Disease in the early morning hours of Wednesday, July 23rd, at the tender age of 15 while surrounded by her family.
Mindy's family shared the following memorial for their precious daughter, which speaks volumes to those who loved her so dearly:
"Mindy showed us how to persevere with her beautiful strong willed smile, her strength and her ability to overcome all challenges. She was the strongest of fighters. She loved being with her family, friends, music, camping and cuddling."
In the days before her passing, the outpouring of support and love for this lovely girl was overwhelming over social media, where they recalled her enduring and ever present smile. Each person she touched so profoundly came forward to share their fondest memories, and sincere love for Mindy and her unwavering strength and perseverance.
Services celebrating her life will be held at the First Church of the Nazarene, 3905 Clinton Road, Jackson on Friday, July 25, 2014 at 11 am with Pastor Rod Walker of the Harmony Baptist Church officiating. Visitation will be at the funeral home Thursday, 2-8 pm and at the church one hour prior to service time.
Ronda has indicated that their family has chosen for memorial contributions in Mindy’s memory be directed to the NNPDF in her name ~ so as to continue the fight against NPD and to ensure that no other child and family face the ravages of NPC in the future.
May the family and friends of our sweet Mindy find the strength they need to move on in the days, weeks and months ahead. Please know that all the families and friends of the National Niemann-Pick Disease Foundation are with you all in our hearts and in grief.
~ NNPDF
[July 23rd, 2014 ~ blg]
July 2014 NNPDF e-Newsletter
July 2014 NNPDF e-Newsletter now available! Highlights include the following Family Conference topics:
- Things to Do in Burlingame & San Francisco!
- Getting Around Burlingame & San Francisco!
- Alcatraz Island + San Francisco City Tour!
[July 15th, 2014 ~ blg]
ALERT!
2014 NNPDF Family Conference Hotel Block Bookings
Deadline: July 9th, 2014!
Dear NNPDF Families and Friends,
The Embassy Suites Waterfront block of rooms reserved for the 22nd Annual NNPDF Family Support and Medical Conference at the Foundation's special contracted room rate will no longer be available after Wednesday, July 9th, 2014!
Make sure that you don't miss out on your chance to book your room! Special planning went into the selection and choice of the Embassy Suites San Francisco Airport hotel to ensure that every one of our NNPDF families and guests is able to have a comfortable stay and to experience amenities galore, such as:
- Special contracted rate of $149.00 for 2 adults per night (+ Tax and fees = $167.33) with a NNPDF subsidized credit per night of $22.46 upon checkout for a total of $144.87 per night.
- Complimentary fully cooked to order breakfast each morning for each guest
- Complimentary beverages and snacks at the evening Manager's Reception
- Complimentary shuttle service to and from the San Francisco International Airport and SFO BART station that will take you into San Francisco
- Complimentary Burlingame shuttle to peruse the local shops and restaurants known as the "Newport of the West Coast"
- San Francisco International Airport (SFO) is located only 3 miles from the Embassy Suites Waterfront, making it an ideal location.
San Francisco offers a wide-range of recreational and tourist opportunities for the entire family. With so much to see and do, you may want to plan your conference trip to include a couple of extra days to take advantage of all the area has to offer. The NNPDF family conference special hotel rates are also available three days prior to, and three days following the conference so that you can expand your travels.
We want to encourage our families to join us in San Francisco this year. Not only for the updates planned on all 3 current clinical trials, or the break-out sessions, but to enjoy time with your family while in Burlingame and the surrounding San Francisco area.
While the Embassy Hotel is located in Burlingame, it's only 16 miles from the beautiful city of San Francisco! We want our families to take this opportunity to explore all this bustling city has to offer. Whether you take a tour of Alcatraz Island, go see the Golden Gate Bridge, or visit Fisherman's Warf, there is something for everyone!
Feel free to contact the Central Office ([email protected] - 920-563-0930) if you have any questions or any issues registering or booking your hotel room.
Online Hotel Registration - Reserve Your Room!
Please note: Registration for the Family Conference itself has been extended, so don't wait to do so if you're looking to book a room as well!
[July 3, 2014 ~ blg]
National Institutes of Health
Clinical Trial Updates for Niemann-Pick Type C Disease
June 27th, 2014
*Cyclodextrin and HDAC Inhibitor*
Update from Dr. Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHD
The NNPDF central offices received the following update from Dr. Forbes D. Porter to share with the community in regards to recent developments in both the Cyclodextrin and new Histone Deacetylase Inhibitors (HDACi) clinical trials.
The TRND team continues to work to determine if cyclodextrin is a safe and effective therapy for children and young adults with Niemann-Pick Disease, type C1. This trial was initially started in January 2013 using Ommaya reservoirs; however, after three patients we had to stop the trial due to complications. The trial was revised to administer the cyclodextrin by lumbar intrathecal infusion (spinal tap). We were able to resume the trial in September of 2013 and to date we have enrolled twelve patients in whom we have studied cyclodextrin doses between 50 and 400 mg. Some of the initial biomarker results look promising and we expect to obtain results from additional biomarker testing over the next few months. From a safety perspective we are still concerned about ototoxicity (hearing loss) and we are working to try to better understand this issue. Concurrent with this first trial we are working on a number of options that would support a phase II/III trial that would try to show that cyclodextrin has clinical benefit. This second trial will need to be multisite and multinational.
For more information about the Cyclodextrin Clinical Trial, visit the Cyclodextrin page.
In addition to cyclodextrin, we are also exploring the potential use of histone deacetylase inhibitors (HDACi) to treat NPC1. The Maxfield and Sturley research groups showed that HDACi can reduce cholesterol storage in cells that have been cultured from NPC1 patients. Over the past year we have been working to establish a proof of concept clinical trial of HDAC inhibition in NPC1. A proposal to evaluate HDACi in NPC1 was awarded one of the first U01 grants (Drs. Maxfield, Ory and Porter) designed to promote extramural utilization of the NIH Clinical Center ( http://www.nih.gov/news/health/mar2014/nichd-13.htm ). This collaboration has now been expanded this intramural/extramural collaboration to include investigators from Notre Dame (Drs. Helquist and Wiest), Broad Institute (Dr. Holson) and Mayo Clinic (Dr. Patterson). This effort is being supported by Notre Dame College of Science and the Ara Parseghian Medical Research Foundation. The initial drug to be tested will be vorinostat. Vorinostat is approved by the FDA for the treatment of cutaneous T-cell lymphoma. Since this is a proof of concept trial and the safety of this drug in NPC subjects is not likely to differ significantly from patients with cutaneous T-cell lymphoma who have failed alternative chemotherapy, we were able to obtain a waiver of the requirement for an Investigational New Drug application for the testing of vorinostat in adult subjects with NPC1. The NICHD Institutional Review Board (IRB) has approved a protocol to test the safety and efficacy of vorinostat in a cohort of 12 adult NPC1 subjects and we are currently working on IRB approval for a second site at the Mayo Clinic. This will be a phase I proof of concept trial that will focus on safety of HDACi in NPC1 subjects and determine if HDAC inhibition has a desirable biochemical effect in white blood cells. Although we still have a number of issues to resolve, it is our goal to initiate this protocol this fall.
For more information about the Histone Deacetylase Inhibitors Trial, visit the HDACi page.
[Jun 27th, 2014 ~ blg]
2014 Family Conference
Hotel, Helping Hand Stipend and Registration Deadlines Approaching!
ALERT! Family Action Required ~ 2014 NNPDF San Francisco, CA Family Conference ~ Helping Hand Stipend and Conference Registration Deadlines are fast approaching!
The NNPDF Central Office wishes to remind our Niemann-Pick Disease community members that the ~ Conference Financial Assistance Applications known as the: “Helping Hand Stipends” for the 22nd Annual NNPDF Family Support and Medical Conference are due by the end of the day Monday, June 30th, 2014. New for 2014: On-line Conference Registration, HH $ Stipend Registration and Hotel Room Reservations. Find links for all of these applications and more information about the San Francisco Family Conference here: /familyservices_03.html
There are still rooms available in the NNPDF room block at the Embassy Suites San Francisco, CA Airport ~ Waterfront which will be held until Wednesday, July 9th, or until sold out, whichever comes first.
We recommend you make your room reservations as soon as possible! If you have any questions pertaining to the conference ~ please feel free to contact the NNPDF Central Offices at: [email protected] or call: 1-920-563-0930.
All are so looking forward to another stellar conference on behalf of our family membership and our loved ones.
Enjoy the weekend,
Nadine
[Jun 27th, 2014 ~ blg]
June 2014 NNPDF e-Newsletter
June 2014 NNPDF e-Newsletter now available! Highlights include:
- Online registration for the family conference!
- Summer 2014 Fundraising!
- NNPDF Newsline
[June 17th, 2014 ~ blg]
Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
June 13th, 2014
Dear NNPDF Families and friends,
The NNPDF Central Offices received the following update from Genzyme (a Sanofi Company) in reference to the current Enzyme Replacement Therapy clinical 1b phase trial provided on June 13th, 2014:
" Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
Genzyme completed a Phase 1b trial in Niemann-Pick disease Type B adult patients in January 2014. The Phase 1b trial evaluated the safety and tolerability of an investigational enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM) when administered once every 2 weeks. Five adult patients with Niemann-Pick B disease were enrolled and completed the trial at two study centers, Mount Sinai in New York, NY, US, and St. Mary’s Hospital in Manchester, UK. At this point in time, we are reviewing and preparing the final analyses of the Phase 1b trial. The results of the Phase 1b trial will allow us to develop and plan future studies and to have a discussion with regulators such as FDA and EMA concerning our next step in the process.
While Genzyme continues to evaluate the results of the Phase 1b trial and prepare for meetings with the regulatory authorities, Genzyme continues to make progress preparing for a Phase 2 trial to further evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year. The Phase 2 study will be a multi-center, international, 1-year placebo-controlled trial to investigate the safety and efficacy of rhASM in adults with Niemann-Pick disease Type B. Participant enrollment for the Phase 2 study will begin after the results of the Phase 1b clinical trial have been fully evaluated, we have had the opportunity to discuss the results with regulatory authorities, and the trial sites are activated.
Genzyme remains committed to the Niemann-Pick community and will keep you updated as our development program continues. "
The NNPDF will continue to keep you updated as we receive further updates pertaining to this important research and clinical work on behalf of our Niemann-Pick Disease type A and B (ASMD) community.
For more information about the Enzyme Replacement Therapy Clinical Trial, visit the ERT-NPB page.
[June 16, 2014 ~ blg]
Happy Father's Day Greetings from the NNPDF!
Dear NNPDF Families and Friends,
This Sunday, our NNPDF families will gather together with their loved ones to celebrate their Dad's and to honor them for the enduring love and spirited care which they provide for cherished children.To all of our special super Dad's in the NNPDF community, we wish you a day filled with the delightful memories and unending joys of your children and loved ones. For all you do and continue to do, you are truly unsung heroes today and all year long.
Happiest of Father ’s Day Greetings to you All!
[June 13th, 2014]
NEW ~ Searching the NNPDF web site with Google Search
In the current trend of finding better ways to communicate with our community, we've recently replaced our old Pico web site search engine in favor of Google Search!
This will allow you to locate specific topics and terms indexed on our web site, making your search for information faster and easier than before!
Instructions for Using Google Search
On the NNPDF Web Site
The above button should be visible to the left hand side of the Home page, as well as any other page you visit on the NNPDF & CCNNPDF web sites. Click on it to begin searching!
You will be brought to the above page, where you can type in what you want to search for. In this example, we're going to search for the October Awareness page from 2013. So type in October Awareness and press the button with the magnifiing glass.
This will bring up the search results, and clicking any of the links will open them in a new tab, so you can always come back to your search if the link you click on is not the one you were looking for.
When your search is done, you can click the X in the corner of the results page to return to the Google Search page. It's as simple as that!
Feel free to contact the office if you have any further questions on using this new site feature. Feedback is always welcome as well!
For a PDF copy of these instructions: Click Here
[June 11th, 2014 ~ blg]
Father's Day Shopping with the NNPDF!
Dear NNPDF Families and Friends,
Don't let your Dad be tied down by another crazy tie this year that may end up as a funky quilt! Break the pattern by shopping for a unique gift item that will give back to the NNPDF as well!
We have made it easy for you! Our selection of participating stores via Goodshop , iGive and Amazon Smile are larger than before, which means that a percentage of your Father's Day purchase will directly benefit the foundation just by shopping at your favorite stores online!
Visit the NNPDF Store today to get a gift he'll not only love, but will keep on giving!
[June 6th, 2014 ~ blg]
USA Today Article
Coppola Remains Positive While Battling Genetic Disease
David Coppola (NPC)
David Coppola (NPC)
Dear NNPDF Families and Friends,
With great thanks to the collective efforts of our Niemann-Pick Disease families and community, David Coppola, (Age 18 yrs ~ NPC), was able to garner the runner up position with 277,117 votes in the 2014 National Guard Inspiration contest. One writer at USA Today High School Sports, Adam Lazarus, found his story so inspirational that he followed up the contest with an article which appeared in the high school sports section of USA Today this week.
Click here to read the article!
Congratulations again David ~ you are true winner in our books and an inspiration to us all!
The NNPDF Central Office Staff
[May 3rd, 2014 ~ blg]
22nd Annual NNPDF Family Conference Online Registration
Dear Friends and Families,
For many years it has been our hope that we could one day find a way to help integrate our family conference registration and helping hand stipend forms into online registration. We are very pleased to share with you all that this is now a reality.
Below are the links to not only register online for the Embassy Suites hotel, but also to complete your registration and helping hand stipend online as well.
Book your room at the Embassy Suites OnlineOnline Registration and Helping Hand Stipend Form
Please note that when registering online for the conference that you will have to identify registrants based on the fee that is paid. So if you are a family of 4 (2 adults, 1 child and one NPD-affected individual) make sure to use the drop downs for all three of those tickets. If you are also looking to apply for a helping hand stipend ( NPD immediate family & patients only are eligible ) make sure “1” is listed under that option before you check out.
You do have the option to pay credit card upfront or to pay check by mail. We ask that if you pay by check that you make sure to pay by the day of the conference, if even provided at the registration table at the Embassy Suites.
Things of Note:
- Be Thorough : You’ll notice that information is being requested for each ticket you are purchasing, regardless of fee. This is information we do need for each individual, so be as thorough as you can with your form. If something is not applicable to you and is not required, you can leave it blank.
- Please make use of the “First Time Attendee?” question. It’s an easy way to let us know to create a first time attendee badge for you as well as pair you up with a mentor during the conference.
- Let us know the meals you will be attending with us! You’ll notice each person is asked if they will be in attendance for specific meals throughout the conference. This is how we know how many meals to plan for each day and keeps costs low if we know you won’t be attending or are planning to dine out instead.
- Don’t have your hotel information yet? No worries. Fill it out to the best of your abilities and e-mail [email protected] with your hotel information once you get it. We can update your registration on our side with no issues.
- What if I already sent in a hard copy form? If it came in and we received it, again the office assistant will enter in your information for you and should confirm either by a direct e-mail (prior to the online registration) or via a registration confirmation e-mail (once online registration is up).
- Keep an eye on your mailboxes as well, as the Family Conference Registration Packet mailed out last week as well!
Here are some important dates to keep in mind when registering for the Family Conference, as well as the tentative Agenda so you can begin planning your trip accordingly.
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Important Dates and Deadlines |
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If you should have any troubles with registering or have any questions about the family conference you can feel free to contact the office assistant, Beth, anytime at 920-563-0930 or e-mail her at [email protected] .
Feedback is appreciated on this new process as well, since it is new and we want to work hard to make sure it goes smoothly now and in the future.
We can’t wait to see you all in sunny California in just a few short months!
[May 29th, 2014 ~ blg]
Meet Lee Ann Keener!
Lee Ann Keener
Clinical Research Nurse, NIH
The National Niemann-Pick Disease Foundation is pleased to introduce you to Lee Ann Keener, newest member of the National Institutes of Health Therapeutics for Rare and Neglected Diseases program, Lee Ann Keener!
While Nicole Farhat is away, Lee Ann will be stepping forward to be the primary NIH contact, so if you have any needs feel free to contact her. Below is her biography she kindly provided for us.
" I graduated with my Bachelor of Science in Nursing from George Mason University knowing that I wanted to work with children. This led me to INOVA Fairfax Hospital for Children working on the Pediatric Hematology-Oncology unit. As I saw children being enrolled on research protocols for cancer therapies, I became interested in the details of how these protocols came to be and how the treatments were determined.
My curiosity led me to the National Institutes of Health where I started out as a Clinical Research Nurse working on the Inpatient Pediatric unit. When we started the Cyclodextrin trial, I became familiar with the NPC patients and their families, and was asked to join Dr. Porter’s team. I am very honored and excited to work with such an amazing group of people who are dedicated to scientific research for NPC!
I have certifications in pediatric hematology-oncology nursing, end-of-life nursing care, and holistic nursing.
I enjoy traveling, yoga, scuba diving, snowboarding, reading and playing with my 2 mini-dachshunds. "
We welcome Lee Ann to the team and look forward to working with her!
[May 29th, 2014 ~ blg]
May 2014 NNPDF e-Newsletter
Here's the e-Newsletter you've all been waiting for! Highlights include:
- Family Conference hotel registration, Family registration form and helping hand stipend now online!
- Family Conference tentative agenda, important dates and deadlines.
- Meet Lee Ann Keener, Clinical Nurse at the National Institutes of Health!
-
Current Research Updates from:
- Dorthea Maetzel, Ph.D.
- Charles Vite, D.V.M., Ph.D
- Stephanie Cologna, Ph.D.
- Lluis Samaranch Gusi, Ph.D.
- Andrew Munkacsi, Ph.D.
- Rare Disease Research ~ Clinical Trial for Niemann-Pick Type C.
[May 20th, 2014 ~ blg]
Funded NNPDF Fellow Dorthea Maetzel
NPC1 iPSC Paper and Press Release
Dr. Dorthea Maetzel
Dear NNPDF Families and Friends,
The National Niemann-Pick Disease research advocacy groups of the United States and Canada (The National Niemann-Pick Disease Foundation and Canadian Chapter of the National Niemann-Pick Disease Foundation, respectively) are pleased to share with the wider NPD community the publication of the funded fellowship work of Dorthea Maetzel at the Whitehead Institute.
Below is not only her research paper, but the official press release from the Whitehead Institute in which the article appeared.
We want to congratulate Dr. Maetzel for her exemplary efforts and talents!
[May 15th, 2014 ~ blg]
Mariarosa Assunta Martino
02/28/1985 ~ 05/08/2014
Mariarosa Assunta Martino (NPB)
My Dearest NNPDF Families,
It is with deep regret that I pass along word as to the death of Mariarosa Martino ~ NPB.
Our entire NNPDF community is simply heartbroken to learn that Mariarosa Martino passed away earlier this week. We are awaiting an update from her family but understandably they are overwhelmed at Mariarosa's passing and are devastated by her death.
To understand the gravity of this loss and just how much of an inspiration Mariarosa was to all who knew her, we reflect on a biography written by Mariarosa herself:Mariarosa Martino NPD Type B
I was diagnosed with Niemann Pick Type B when I was 3 years. I am currently 28 and have been managing this condition my entire life. Niemann Pick has affected me physically, emotionally and spirituality. Physically, I have an enlarged liver and spleen, weakened immune system, chronic fatigue, & osteoporosis to name a few.This condition has made me question my self confidence and my life purpose. I have felt despair, pain but most of all hope. It is through acknowledging and accepting how this disease has affected me, I have been able to embrace my true self and purpose. I have learnt the importance of people, compassion, humility, love, strength in self-love, and strength in accepting this disease as a part of me and not defining me. I have learnt to embrace my true self which includes expressing grateful to wake up each morning and embrace the beauty of the sun. It has taught me to be present today and not to be consumed by the past or future, to have the courage to accept the things I can not change, learning and realizing that a good life is not measure in time, money or materials but in being true to who I am.
I dedicate myself in helping other by sharing my story, being open to all life experiences. I have learnt that my body is just a vessel and that though I have this disease, it is my body that is sick and not my spirit. It is when I have been most ill I have learnt my true strength and the strength of humanity. It is this disease that though not upon anyones choice has brought a community of amazing spirits, souls and individuals that have left their imprints upon the world that very few every leave.
I continue to strive for a cure for all of us affected and am dedicated to continue raising awareness. I owe my ability to persevere to those written within this book because it is their stories that continue to fuel my courage.
We are holding Mariarosa, her family, friends and all who loved and cared for her in our thoughts and hearts. With heartfelt sympathies to all who had the opportunity to know and love such an inspirational, loving and beautiful young woman.
For information regarding services and to send family condolences: Click Here
Mariarosa's family has asked that donations made in her Memory be made directly to:
The Canadian Chapter of the National Niemann-Pick Disease Foundation
c/o Tammy Vaughan, Chair
P.O. Box 302
Durham Ontario N0G 1R0Nadine ~
[May 12th, 2014 ~ blg]
Happy Mother's Day Greetings to All!
Hello Dearest NNPDF Families and Friends,
This Sunday, our NNPDF families will gather together with their loved ones to celebrate their “Mom’s” and to honor them for the enduring love and spirited care which they provide for cherished children.
For the families of the NNPDF, Mother’s Day can be a rollercoaster of emotions and soul-crushing heartache.
“Mom’s” who have lost their precious child(ren) physically ache to hold their baby one more time and struggle with their identity as a mother and parent.
“Mom’s” caring for their medically fragile child(ren) push themselves to live in the moment and recall every precious smile, giggle and detail, never knowing if this will be the last Mother's Day with their affected child. All while dealing with the heartbreaking grief for all that was lost on that dreaded day the diagnosis was given.
“Mom’s” of adult child(ren) living with Late Onset NPD agonize about their future and struggle with the thoughts of what will happen when mom and dad are no longer able to provide the same loving care and support.
For all of our special super “Mom’s” in the NNPDF community, we wish you a day filled with the delightful memories and unending joys of your children and loved ones. For all you do and continue to do, you are truly unsung heroes today and all year long.Happiest of Mother’s Day Greetings to you All!
Please follow the link below for a letter to a Special Needs Mom , whose child is unable to write or say the words that any Mom longs to hear……
~ The National Niemann-Pick Disease Foundation
[May 9th, 2014 ~ blg]
Shop for Mom to Benefit the NNPDF!
This is just a reminder that while you're shopping for Mother's Day, that the National Niemann-Pick Disease Foundation Store has access to not only Awareness items, but to popular stores (via iGive , Amazon Smile and GoodShop ) that will send a percentage of your Mother's Day purchases back to the Foundation!
Visit the NNPDF Store for great Mother's Day ideas!
[May 8th, 2014 ~ blg]
22nd Annual NNPDF Family Support and Medical Conference
Thursday, July 31st ~ Sunday, August 3rd, 2014
Dear NNPDF Families and Friends,
We're pleased to announce that the 22nd Annual NNPDF Family Support and Medical Conference, being held in San Francisco, CA, has the official dates of Thursday, July 31st through Sunday, August 3rd, 2014!
For all the early birds who want to start registering for the 2014 Family Support and Medical Conference, we've made the registration and helping hand stipend forms available on the NNPDF Family Conference page! Deadline is June 30th, 2014 for both!
Visit the updated Family Conference page for all the currently available details.Reservation information coming soon! More information will be released as it is available, so keep an eye on the web site for more updates to come!
[April 4th, 2014 ~ blg UPDATED : April 11th, 2014]
NNPDF Research Highlights & Updates ~ March 2014 e-Newsletter
Dear families and friends,
In the latest e-Newsletter from the NNPDF we highlight:
- New Scientific Advisory Board Chair Announced
- NNPDF Request for Application
- Updates to Research
- NEW Caring for Rare Disease Caregivers website
- 2014 Annual NNPDF Family Support and Medical Conference
Click Here to view the e-Newsletter.
[March 19th, 2014 ~ blg]
The Caregiver Action Network (CAN) announced the launch of www.RareCaregivers.org , a comprehensive online guide that addresses the distinct needs of family caregivers of loved ones with rare diseases.
The website is a guide for family caregivers of loved ones with rare diseases and features information helpful to the caregiver (known around the world as carer, cuidador, soignant, betreuer, and other phrases, depending on the country) such as:
- Caregiving Information You Can Use Now
- Take Care of Yourself
- Complex Emotions
- Family Matters
- Other Places to Turn for Help
Visit our Caregiver page for the full press release and more information on caring for a caregiver.
[March 17th, 2014 ~ blg]
Patricia "Patty" Anne O'Neil (NPC)
02/27/1956 ~ 02/22/2014
Patty O'Neil, (Adult On-set NPC)
Dear Families and Friends,
The NNPDF central office received the sad news that Patricia "Patty" O'Neil lost her battle with adult onset NPC on February 22nd, 2014.
Many will recall she and her family members frequently attending the NNPDF Family Conference, most notably at the Manhattan Beach, California conference in 2005, but may have not known that behind her sweet smile was a devout lover of film and stage productions. Patricia has an extensive background, not only as a professional theater & film actress, but also as a beloved drama teacher.
Patricia was a good woman who shared her life with many in her years as an actress & teacher, as well as those who loved and knew her personally. Her story is one of Perseverance and the pursuit of love fulfilled.
For a full biography of her amazing history, you can read Patricia's obituary: Patricia Anne O'Neil
Patty will be remembered for her youthful exuberance, caring nature, love of life and family, and generosity of heart.
[Mar, 10, 2014 ~ blg]
Brisan Stults (NPC)
08/27/2004 ~ 03/04/2014
Michael, Brisan (NPC), & Jennifer Stults
Dear NNPDF Families and Friends,
The NNPDF Central office has received word that Brisan Stults (NPC ~ age 9), son of Jennifer & Michael Stults, lost his battle with Niemann-Pick Type C on Tuesday morning due to complications related to the disease.
Our hearts are broken as we inform the NNPDF community of young Brisan's passing ~ he was loved by so many and taken too soon from us all. As the "Big Brother" of the family, Brisan will be especially missed by his two younger brothers ~ Parker (NPC ~ age 8) and Duncan (age 6). Brisan's loving family, worked diligently not only on behalf of their boys with NPC but within the NPD community to help support other families also facing the daily challenges of Niemann-Pick Disease.
Our thoughts are with the Stults family & all those who loved Brisan. The road ahead will not be an easy one, but one comfort you can be certain about is that the families of the NNPDF will be here to assist you through this time. We will sit with you in your moments of needed silence, as well as, offer to listen and hold you near when the heartbreak simply seems too great to overcome. Please know that all the families and friends of the National Niemann-Pick Disease Foundation are with you in our hearts and in grief.
The following service information has been provided by the family:
Pleasant Valley Baptist Church, in Liberty, MO:
- Public Visitation Thursday, March 6th, 2014 from 5:30pm - 7:30pm
- Public Funeral Friday, March 7th, 2014 at 10:00am
In heartbreak and sorrow,
Nadine
[March 5th, 2014 ~ blg]
NPD Community Worldwide Unite!
We have an unparalleled opportunity to raise $100,000 towards NPC research, but it will only happen if YOU take action and encourage others to do the same. It's easy! Vote once a day online between now and March 16th to push the Trent and Julie Smith Family Foundation "BReaK Thru Fund" for NPC research to the finish line and the top prize of $100,000.
Click Here to Vote!
Matt Painter, Purdue University Coach and the Smith Family BReaK Thru Fund are in the Final 4 of the Coaches Challenge. With your help, NPC research could get $100,000, but only if you vote daily! Coach Painter is currently in 3rd place, but we CAN do this if everyone gets behind this project. Only 1st place wins the 100,000 dollars.
We've started this event as a daily reminder for you to vote leading up to the final day on March 16th, 2014. Share this with your families, share this with your friends and encourage them to do the same. Alone we are rare, but together we are strong!
[March 4th, 2014 ~ blg]
~Cyclodextrin Update~ 02/21/2014
NIH Update on NPC Cyclodextrin TrialDear NNPDF Families and Friends,
We received the following update from Dr. Denny Porter with reference to the NIH/TRND Cyclodextrin Clinical:
Dr. Porter advised:
“We have hit a potential safety issue with the HPBCD trial. The initial two kids who received the 300 mg dose demonstrated a grade 1 high frequency hearing loss on safety testing. Grade 1 is the lowest level of severity. Five other children have been exposed to the 300 mg dose. We do not yet have safety testing on this group. We will obtain this information over the next 3-4 weeks. We do not yet know if this is an idiosyncratic (the initial two kids are siblings) reaction or if this is going to be a general issue. We have engaged the IRB and safety committee. We will be engaging the FDA. Our goals are to determine if we have a general safety issue and to figure out the best path forward. Beyond the statement that a problem with hearing has been encountered and we are trying to figure out the safest and best way forward, there is not much that we can say. There are multiple hypothetical paths forward at this time and the final plan is subject to information that we don’t have yet and input from other groups. The uncertainty will remain for much of the next month. We are not halting the trial.”Denny
Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHDAs Dr. Porter noted, all involved will need to wait until the children in the trial return back to the National Institutes of Health in Bethesda, Maryland for further testing before the multiple agencies involved will be able to make any additional determinations on how to proceed. Of course, of utmost concern is that any action will ensure that “first and foremost” ~ the health and safety of all involved is in the forefront.
Thank you to all for their continued expertise, support and involvement in these efforts.
Kind regards,
Nadine
[Feb 21st, 2014 ~ blg]
Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
February 13th, 2014
Genzyme, a Sanofi company, is pleased to update the Niemann-Pick Disease patient community on the progress of our efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
Recently, Dr. Simon Jones, MbChB, presented interim tolerability and safety information from our Phase 1b clinical trial at the WORLD Symposium, held in San Diego, CA.
The title of the presentation was:An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD). (The abstract is listed under # 112.)
For the full update, visit the Enzyme Replacement Therapy Page
[Feb 20th, 2014 ~ blg]
World Rare Disease Day Celebration ~ 2014
Notre Dame Conference Center
February 15th, 2014 9am-6pm
In celebration of World Rare Disease Day on February 28th, Notre Dame is hosting a public event at their conference center. The event is free, but you must RSVP to attend by the deadline of February 9th, 2014.
If you are a rare disease patient, family member or advocate and would like to share your story, see the contact information on the Event Flyer .
The conference will also include:
-
A forum on providing emerging experimental therapies led by local rare disease patients and their physicians
-
A session on the global perspectives of rare disease patient families Updates from ND faculty and visiting researchers/clinicians on the latest research in lysosomal storage disorders, rare cancers and more broadly in rare inherited syndromes
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ND Student research in establishing natural histories for rare diseases and developing a database for patient medical records
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A poster session featuring Notre Dame student and faculty research in rare diseases
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Other activities including a rare disease quiz to build awareness for rare diseases
- Child care will be provided
To view the flyer for the event, and for information about making an RSVP: Click Here .
[Feb 5th, 2014 ~ blg]
Stanley & Jeffrey Gottlieb Scholarship Award
"Connecting the Dots "
An essay by Chandlar Smith
Chandlar Smith, sister to Keaton (NPC), Braden (NPC ~ 10/3/1996 - 10/31/2006) and Riley (NPC ~ 11/11/1998 - 01/19/2014), recently wrote an essay about how living with three Niemann-Pick Type C siblings has not only changed her life, but her outlook on it.
This essay was written for sumbission to the Stanley & Jeffrey Gottlieb Scharloarship, and was awarded to Chandlar, who kindly allowed us to share her essay with you:
Connecting the Dots: by Chandler Smith
Anyone who reads it immediately can see why it was chosen. It shows that love is ever enduring, and that even when we lose, hurt and fight, what matters most is always with us, even if it can only live on in our hearts. That sometimes loss isn't the end, but can also be a beginning.
With the recent and unexpected of loss of her little sister Riley, this essay takes on a much more personal meaning for the reader and proves to be a wonderful way to honor all of Chandlar's siblings.
The Gottlieb Scholarship Fund was established in 2005 to share the beautiful and meaningful ways siblings incorporate their sibling experience into their lives and careers. We congratulate Chandlar on her essay and wish her the very best in connecting her dots moving forward.
For more information on the Gottlieb Scholarship Fund, visit: Here
[Feb 5th, 2014 ~ blg]
22nd Annual NNPDF Support and Medical Conference
~ San Francisco, CA ~
Summer 2014
Dear Friends and Families,
Welcome to 2014! A new year means a new Family Conference, and we're excited to announce that this year's conference will be held in San Francisco, CA in summer 2014! Tara Patterson-Martin and Rebecca Spencer-White have kindly agreed to host this year.
As we get closer, more information will be released. Keep your eyes on the NNPDF Family Conference page , as well as the Newsline for the latest updates.
[Jan, 22, 2014 ~ blg]
Riley L. Smith (NPC)
11/14/1998 ~ 01/19/2014
Our Dearest NNPDF Families and Friends,
It is with heavy hearts that we must inform the NPD Community that Riley Smith lost her battle with Niemann-Pick Disease, Type C, yesterday morning after a 9 day valiant & courageous battle. Riley earned her wings to join her brother, Braden (age 10), who lost his battle with NPC in 2006.
Riley's Aunt, Terri Gillespie Ford, asked us to share these words with the community.
"Riley didn't lose anything, she won this battle for a better existence in a world where children walk, talk, and eat - lots and lots of chocolate!! Riley gave her love each and every day and showed the world your body is nothing, your spirit is everything! And choosing to give it for others it what this world should be about. We will miss her terribly! She fought with everything, and passed into heaven peacefully being held in the loving arms of her parents, Trent & Julie Smith."
This comes as a blow to us all who were enchanted by her bright smile and lovely red hair. She will be remembered for her courage, her spirit and her enduring love of her family and friends. Please know that of the entire NPD community is with you in your grief. May the comfort and love of friends and family carry you on in the days, weeks and months ahead without Riley as a part of your lives.
For Riley's services, Memorial or to send your condolances you can visit: Here
[01/20/2014 ~ blg]
Lexington High School and Middle School
Releasing Balloons for Students in Clinical Trial
Kayla (13~ NPC) & Cody (18 ~ NPC) Ruthven In Honor of the Ruthven Rockstars participation in the Cyclodextrin trial at the National Institutes of Health, the Lexington High and Middle Schools released 500 balloons on Monday, January 13th.
Cody & Kayla Ruthven are making their journey to Maryland for a two week stay to participate in the current drug trial for Cyclodextrin. They are two of 9 children participating in the trial. After the first two weeks, they will return to the Institute once per month to receive the drug in hopes that it will save their lives.
The family has a blog specifically for their experiences while in the trial that can be found here: Cody and Kayla: On the Road to a Cure.
We wish Cody and Kayla the best of luck and look forward to sharing in this journey through their blog!
[Jan 15th, 2014 ~ blg]
NNPDF Funded Research in the News!
The NNPDF Central Offices was recently forwarded the article below highlighting the work and results from NNPDF funded research fellowship grant.
Restarting Stalled Autophagy A Potential Approach to Treating Niemann-Pick Disease
The Whitehead Institute http://wi.mit.edu/news/archive/2014/restarting-stalled-autophagy-potential-approach-treating-niemann-pick-disease
Rudolf Jaenisch ~ Biology Professor at MIT (NNPDF Fellowship Research Sponsor)
Dorothea Maetzel , Ph.D. (NNPDF Funded Fellow) http://nnpdf.org/FellowshipsFunded.html
A deep note of gratitude is due to the current NNPDF Scientific Advisory Board, with a special recognition to SAB Chair, Dan Ory, for their ongoing support and expertise in assisting the NNPDF with our research funding programs. In addition, we wish to extend a kind and gracious note of thanks to NNPDF Funded Fellow, Ms. Dorothea Maetzel, Ph.D., who not only worked diligently on this study but also carried our NPD children and young adult patients and their families in her heart while spearheading this work.
We WILL PERSEVERE In Our QUEST FOR A CURE!
~ Nadine
[Jan 15th, 2014 ~ blg]
On the Twelfth "Day and Way" of Caring for the Caregiver
~ Give Yourself Credit for All the Good You Do ~
The holiday season always helps to bring out the best in people. It is a time for giving back, when we have an opportunity to show our appreciation to those we love with a thoughtful gift. Why not show them every day?
As a caregiver, you may not feel deserving of praise, but what you do every day is truly a remarkable thing. Without ceremony and without praise you continue on day in and day out, not just once a year. You choose to enrich the lives of, not only the one you are caring for, but extend your kind spirit and graciousness to all those in your life. Even if there are thankless days in the coming year, it is helpful to learn the best ways to see the value in your efforts and to encourage yourself.
Below are some additional links on how to encourage yourself, or to be supportive of a caregiver in your life ~ how to give them a self-esteem boost!
- How to Encourage and Support a Family Caregiver - A Yahoo Voices Article
- Encouraging Caregivers - Encouraging Caregivers Blog
We would like to thank all the members in our vast NPD patient and family community for your tireless efforts in 2013. Without your generosity, patience, good humor and friendship we could never have found ourselves with so much HOPE in our HEARTS for 2014!
You encourage and inspire us with everything you do and we wish you the very best for you and your family as we look to the end of 2013 and welcome in 2014.
Be safe, be kind and take care of one another.
~ NNPDF Central Office Staff
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For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 24th, 2013 ~ nmh]
On the Eleventh "Day and Way" of Caring for the Caregiver
~Know Your Limitations~
As we worked on our countdown toward the Holiday’s this month, we touched upon the idea of “Knowing Your Limitations” a few times, especially by offering you ways to take care of yourself as a caregiver. By placing a focus towards yourself ~ physically , emotionally & mentally ~ you are assuring that you are following the cardinal rule of caregiving:
~ Take care of yourself so you CAN take care of your loved one . ~
“Knowing Your Limitations” is an integral part of this, because even after you've followed all the ways we've detailed previously, if you overload yourself each day you run the risk of Caregiver Burnout Syndrome .
By “Knowing Your Limitations” not only can you better plan your days, but it will allow you to spend more of your time enjoying the time with the one you are caring for.
Here are some tips for you to identify and stick to your limitations:
- Be Niemann-Pick Disease (NPD) Educated: Knowing all you can about NPD can help you to anticipate some of the struggles ahead, giving you better leverage to meet them head on. Talk to your doctor, use www.nnpdf.org as a resource if needed, along with the numerous contacts of NPD researchers and doctors available. Be curious and be outspoken with your questions and concerns.
- Trial and Error: All the information in the world cannot prepare you for everything. Experience is required to know what is best and that takes time along with some falls along the way. You will slip from time to time, but remember that it is a learning experience. Each NPD patient is unique and what works for some may not work for your loved one.
- Test the Waters: Find what works best for you and your family. Through trial and error you will be able to build a base schedule for the positive daily timelines. If possible try to create some wiggle room for potential unplanned events to help reduce stress if they should arise.
- Reach Out: The NNPDF has many social resources for you to reach out to if you have questions along the way. Aside from researchers and doctors, you also have access to the NPD family membership community at large who can offer, not only every day advice for caregiving, but can act as additional support and sounding boards for all.
- It IS Okay to Say NO!: For so many of us, saying, “NO”, to a request is tough. It is often difficult to say no to family or friends, but at times it is a required part of keeping yourself whole, especially when the care of yourself or a loved one is involved. Others will understand if you indicate that your plate is just too full at this time caring for your loved one ~ so don't be so hard on yourself if you have to say no.
Check back in tomorrow, as we highlight on the final day of “12 Days and 12 WAYS” the “NNPDF gave to you” ways to give yourself credit for all the good you do !
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 23rd, 2013 ~ blg]
On the Tenth "Day and Way" of Caring for the Caregiver
Regularly attend (or connect on-line) with support groups and/or education workshops.
What can you learn by connecting with other NPD Families and Patients?
Your first thought might be that you can't learn much from someone who isn't a medical professional. In fact, that is far from true.
Connecting with other NPD families and patients can offer a wealth of information. Others may be able to offer suggestions and tips on care for your loved one. They may know of connections to retailers or online resources for clothing needs, equipment, exercise and therapies and family support. They might be able to recommend a specialist in another city when your doctor just isn't helpful enough. They may simply offer moral support, much needed for those with difficult medical challenges.
Treatment involves more than routine medical diagnosis, hospitalized care or even the prescription of drugs. When confronted by illness, family caregivers and patients seek professional help and advice from their doctors, and also rely on support from family members, peers and fellow patients. Patients' with genetic diseases are no exception to this reality. They too face complexities and complications that require a network of professional support staff, family, and friends.
To this end, the National Niemann-Pick Disease Foundation offers several avenues of Social Networking tools available to our NPD membership. These networking tools offer a variety of services and resources to assist our families, caregivers and patients as they work to cope and adapt to the lifestyle that is often dictated by the complications of Niemann-Pick Disease.
The access to support groups, forums and message boards is one of the reasons the Internet is so valuable for patients, their families and caregivers who want more information about their particular disease and how best to care for their loved one.
All three, and other forms of social networking , are web applications that allow users to interact with each other, ask questions, provide facts or opinions, and share emotions. Unlike in-person support groups you might find in your community, often most online groups allow users to remain anonymous.
Treatment involves more than routine medical diagnosis, hospitalized care or even the prescription of drugs. When confronted by illness, patients seek professional help and advice from their doctors, and also rely on support from family members, peers and fellow patients. Patients' with genetic diseases are no exception to this reality. They too face complexities and complications that require a network of professional support staff, family, and friends.
The NNPDF has the following resources and services available for our family membership:
NNPDF Listservs (Email Groups)
NNPDF offers four email lists (listservs) for use by Niemann-Pick families, friends, caregivers, and other interested parties. (A fifth listserv, the "Angels" group, is run by families and caregivers.)
These listservs offer a place where you can share your thoughts, ideas, and challenges with others who have faced, or who are facing, Niemann-Pick Disease. Ask questions, raise concerns, express your feelings, offer support to others, or simply listen; the lists are made available to help meet your needs during this journey.
Lists run by NNPDF are subject to Guidelines on the use of this service. By joining any list, you agree to abide by the terms of the Guidelines.
- Type A List ~ For families, friends and others interested in Niemann-Pick Type A.
Type A Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Type B List ~ For families, friends and others interested in Niemann-Pick Type B.
Type B Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Type C List ~ For families, friends and others interested in Niemann-Pick Type C.
Type C Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Sibling List ~ For children and young adults who have a brother or sister with Niemann-Pick Disease.
Sibling Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
- Angels List ~ For those who have lost a loved one to Niemann-Pick Disease.
(This list is not run by NNPDF. It is run by families and caregivers).Angels Listserv Home Page Sign In/Join Yahoo! Groups Join By Email
NNPDF Face-Book Support Pages:
Niemann-Pick Disease FB Awareness Page link : https://www.facebook.com/groups/nnpdf/
Niemann-Pick Disease Type B Family Support Page link: https://www.facebook.com/groups/315975725198135/
NNPDF Siblings (under age 18 years) FB Support Page link: https://www.facebook.com/groups/NNPDFSibs/
Additional Resources for our NPD Family Membership :
For those families who have lost a loved on to NPD:
My Compassionate Friends: http://www.compassionatefriends.org/home.aspx
(Providing Grief Support for those who have lost a child.)
Patient Empowerment: http://empoweredpatientcoalition.org/
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Check back in tomorrow, as we highlight on the 11th day of “12 Days and 12 WAYS” the “NNPDF gave to you” suggestions on knowing and realizing your limitations.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox.
[Dec 22nd, 2013 ~ nmh]
On the Ninth "Day and Way" of Caring for the Caregiver
~ Give yourself a special treat at least once a month! ~In support of all our Caregivers we wanted to offer you some fun and easy ways to treat yourself that won't break the bank or take too much time, so you can feel spoiled at least once a month ~ and more often if needed! You may not get a whole day at the spa, but you can learn to take advantage of those brief but blessed windows of freedom and down-time when they make themselves apparent. It is often easy to find activities outside of the home to peak your interest and recharge your energy ~ here are a few suggestions:
Time to indulge
- Treat yourself to a scrumptious ice-cream cone.
- Purchase a new shirt or dress to lift your spirits.
- Enjoy a night out with friends.
- Purchase yourself a beautiful flowering plant to brighten up a room.
- Ask for a big bear hug or kiss from a loved one. ( This request need not be confined to only once a month! J )
If you have 15 minutes...
- Make yourself a cup of tea and watch Saturday Night Live clips on YouTube or Hulu or indulge in a good book.
- Put on your favorite Alicia Keys or John Mayer CD, dim the lights, and pour yourself a glass of wine.
If you have 30 minutes...
- Hole up in your bedroom with a cozy throw and a bowl of ice cream to watch the most mind-numbing show you can find.
- Run yourself a steamy, hot, bubble-bath ~ light some candles and soak away!
- Call that old friend you recently found on Facebook and talk for 30 minutes about the old days – recalling fond memories can fill your heart.
If you have an hour...
- Go to the gym. Spend 20 minutes walking on the treadmill and 40 reading magazines in the steam room.
- Sneak to the park for a mid-day picnic.
- Walk to your local downtown and window shop!
- Walk to your local library and lose yourself in the stacks of books.
- Take a car ride, enjoy a good CD, along pretty roads near your home.
- Stop somewhere scenic, soak up the view and just sit for a while before heading back.
- Find a partner and play a board game or quick game of cards.
If you have three hours...
- Bike to a park with a friend; pass right by the swings and sandbox and find a grassy spot for a picnic lunch. Swinging on the swings is extra credit and fun to boot!
- Find the coziest corner at the coffee shop, order a latte, and read half a novel without interruption.
- Go to a movie and order the large popcorn.
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Check back in tomorrow, as we highlight on the 9th day of “12 Days and 12 WAYS” the “NNPDF gave to you” suggestions on knowing and realizing your limitations.
For more resources on Caring for a Caregiver, visit the [Caregiver Action Network] for [10 Tips for Family Caregivers] as well as [Family Caregiver Toolbox].
[Dec 19th, 2013 ~ nmh]
On the Eighth "Day and Way" of Caring for the Caregiver
~ Learn relaxation techniques to help alleviate stress! ~Stress is necessary for life. You need stress for creativity, learning, and your very survival. Stress is only harmful when it becomes overwhelming and interrupts the healthy state of equilibrium that your nervous system needs to remain in balance. Unfortunately, overwhelming stress has become an increasingly common characteristic of contemporary life ~ especially when one is faced with the ongoing care of a loved one.
The NNPDF Central Offices have identified two useful web site resource programs which will assist the user in identifying available and easy options for caregivers that will help you to find the right relaxation techniques for stress relief.
- HelpGuide.org – Finding the correct relaxation exercises that work for you.
- Stress Management from MindTools – This tool introduces three useful physical relaxation techniques that can help you reduce muscle tension and manage the effects of the fight-or-flight response on your body. This is particularly important if you need to think clearly and perform precisely when you are under pressure.
- There are also some tried and true activities that are “easy breezy” and many will find just as helpful:
- Light a beautifully scented candle.
- Back away from noise distractions. Turn off the TV, video games, cell phones, and text messages ~ turn on music which evokes fond memories or gives you a calm and serene sensation.
- Take a bubble bath and read a chapter of a good book.
- Enjoy the sunshine, let it shine into your home and fill your room with warmth.
- Bake something special with your loved ones ~ warm cookies or bread sooth the soul.
- Read a book to your loved one while enjoying a “lovely spot of tea”!
- Insert your own stress relief activity here……
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Check back in tomorrow, as we highlight on the 9th day of “12 Days and 12 WAYS” the “NNPDF gave to you” suggestions on finding activities outside of the home to peak your interest and recharge your energy.
For more resources on Caring for a Caregiver, visit the [Caregiver Action Network] for [10 Tips for Family Caregivers] as well as [Family Caregiver Toolbox].
[Dec 18th, 2013 ~ nmh]
On the Seventh "Day and Way" of Caring for the Caregiver
~ Explore Community Resources and Connect Yourself to Them ~There are many programs available to family caregivers, both locally and online. These programs not only provide information about caregiving, such as available services and how to gain access to them, but also provide information on counseling resources and access to support groups in your area.
The NNPDF Central Offices have identified two useful web site resource programs which assists the user in tracking down and identifying available services for caregivers, not only online but within your own community. Through them, you can connect with other individuals in your community who clearly understand your situation and are eager to assist in giving you a supporting hand.
- Services for Family Caregivers - Programs to support family caregivers, education and training opportunities, respite programs, and useful websites connections for services in your state.
- Caregiver Action Network – (Previously known as the National Family Caregivers Association.) The Caregiver Action Network serves a broad spectrum of family caregivers ranging from the parents of children with special needs, to the families and friends of wounded soldiers; from a young couple dealing with a diagnosis of MS, to adult children caring for parents with Alzheimer’s disease.
- Valuable Resources
- Advise from Caregiver Voices
- Peer Support
- Caregiving Information
- Advocate for Caregivers
- Family Voices - Family Voices provide family resources and support to make informed decisions, advocate for improved public and private policies, build partnerships among families and professionals, and serve as a trusted resource on health care.
Check back in tomorrow, as we highlight on the 8th day of “12 Days and 12 WAYS” the “NNPDF gave to you” ways to relax.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 17th, 2013 ~ blg]
On the Sixth "Day and Way" of Caring for the Caregiver
~ Take a Break Every Day~Previous posts have addressed the importance of taking care of yourself as a caregiver, but it is certainly easier said than done, especially when your entire day is focused on caring for the needs of those you hold dear.
One of the easiest things you can do when planning your day is to find ways to incorporate mini-breaks to focus on yourself. They don't have to be long or involved and can be spread throughout the day to ensure that you are not only getting enough time for yourself, but that these breaks are not interrupting your required daily routines.
Here are some suggestions as to how you can work both the time and the break into everyday life without giving up or imposing upon your important care routines:
- Step Outside : Have 10 minutes? Consider taking a break by stepping out into your own backyard or porch, even for 10 minutes, it can do wonders to help you recharge. If you have a trusted family member or friend who can offer you some respite care, take them up on it. Often getting out of the house, even to run errands on your own, can do wonders. Give yourself the gift of ME TIME. Focus on yourself periodically throughout the day. You deserve it!
- Take a Call or a Visitor : If you find yourself in a position where you can take a quick call, or have a guest over, take the opportunity. The perspective and input from other people often help us to lift our spirits and allow us to view circumstances in better light.
- Work in Your Passions : Love to bake? Paint? Play an instrument? Love to read? Work activities into your day that you can do with the one you're caring for that will brighten both of your days.
- Start Off/End Your Day Right : Find ways of both starting and capping your days in a positive and upbeat way. Sleeping well at night will ensure ease of waking up in the morning to better greet the next day ahead.
We can never reiterate enough that taking some time ME TIME is not selfish. The more you care for yourself, the better you can care for those you love.
For more resources on this subject:
- 10 Tips for Family Caregivers: Tips for Taking a Break - Article from Caregiving.com
Check back in tomorrow, as we highlight on the 7th day of “12 Days and 12 WAYS” the “NNPDF gave to you” the ways to explore your community resources.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 16th, 2013 ~ blg]
On the Fifth "Day and Way" of Caring for the Caregiver
~ Seeking Professional Help if Needed ~Thus far, the NNPDF has offered you “four days and four ways” to better your physical & mental wellbeing as a caregiver, but there are times when the stress gets to be too much.
If you find yourself in this situation, it is important to know that you are not alone. So often, caregivers find that they are simply coping from day to day, too afraid to seek help or downplaying their very real symptoms. There is no shame in asking for and receiving professional help.But where do you begin? What resources are available? With any other hard decision, the enormity of taking that first step can be further delayed when you have no idea where or how to take that first step.
Mental Health America is this country’s leading nonprofit mental health advocate organization dedicated to helping Americans live mentally healthier lives.
If you are outside the States, GoodTherapy.Org is an international associate of counselors, therapists and psychologists. They have over 3,600 therapists in the USA as well as internationally.
Please know that you may also reach out to the NNPDF Central Office for referral assistance as well.
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Check back in tomorrow as we show how on the 6th day of 12 Days, 12 WAYS the NNPDF gave to you the resources to take some time to yourself, while maintaining every day routines.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers , as well as, a Family Caregiver Toolbox .
[Dec 15th, 2013 ~ nmh]
On the Fourth "Day and Way" of Caring for the Caregiver
~ Getting Adequate Rest ~Many individuals have issues with sleep complicated by all we do in a day, the fast pace of our lifestyles, never-ending “to do” lists and often self-imposed expectations that seem to grow day-by-day. For Caregivers these lists are multiplied above and beyond normal worries by layering along with those dutuies the responsibilities of caring for an ill loved one. Some nights it's a wonder if one can get any sleep at all.
Mayo Clinic, a trusted friend of the NNPDF, published an article with 7 steps and suggestions for good sleeping habits which we hope will assist you in improving your ability get more rest.
Sleep Tips: 7 Steps to Better Sleep
Article by the Mayo Clinic Staff----------------------------------------------
Check back in tomorrow as we show how on the 5th day of 12 Days, 12 WAYS the NNPDF gave to you the resources to get professional help if you feel overwhelmed or lack a proper support system.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 14th, 2013 ~nmh]
Tyler White-Richardson
09/11/1996 ~ 12/12/2013
Tylor White-Richardson ~ NPC
UPDATE: Saturday, December 14th, 2013:
Hello NNPDF Families and Friends ~
We have been advised of the visitation, funeral and memorial designations for Tylor White-Richardson. Ty's family and friends will be gathering to celebrate his life and share memories on Sunday evening in the Dubuque, Iowa ~ Galena, Illinois area.
The family has kindly chosen the NNPDF as a memorial designation in memory of Ty ~ in lieu of flowers.
The NNPDF is so appreciative of this thoughtful and kind gesture.
A detailed obituary may be found at:
http://www.furlongfuneralchapel.com/obituaries.cfm
In heartbreak and sorrow,
Nadine
Hello My Dearest NNPDF Families and Friends,
We received heartbreaking news today from Jennifer White-Richardson, that her beloved son, Tylor (Ty) White-Richardson (NPC, age 17) passed away today. So many in the NPD community will remember Ty and his Mom taking to the dance floor at the family conferences for their annual "Mother & Son" dance.
In Baltimore, Maryland this summer ~ Ty also stole the show while break dancing with a long neon pink wig on! Whenever anyone thinks of Ty ~ they will remember a tall, handsome young man who was always ready with a thumbs-up and a quick smile that would simply light up the room. Not to mention that he was absolutely the BIGGEST Brett Favre Packer Fan ever known!
Jenn and family ~ we are all crushed to learn that your precious son, Ty, has lost his courageous battle with NPD. He is a true inspiration to all that had the pleasure to meet and get to know him.
With tears and heavy hearts ~ Nadine and all of the NNPDF families
Ty and his hero, Brett Favre in 2008
[Dec, 12th, 2013~blg]
On the Third "Day and Way" of Caring for the Caregiver
~ Give Yourself Permission to Have a Good Cry~
No matter what we do to try and manage our time and our stress levels, there is one important aspect, which could be perceived as an unfavorable part of life but can actually have positive benefits. Today, our “Care for the Caregiver ~ 12 DAYS and 12 WAYS” will focus is on why it's important to give yourself permission to cry.
To some, the idea of crying is perceived as a very daunting thought, for others shedding tears carries the stigma, for both men and women, that it represents a weakness. This is simply not true. Often a good cry assists you both physically and emotionally. It reduces tension and can actually be linked, as odd as it sounds, to comforting yourself.
Highlighted below are some additional benefits that crying offers:
Stress Release : Crying is thought to help reduce stress, which can have a damaging effect on our health and has been linked to a number of health problems including heart disease, high blood pressure, type-2 diabetes and obesity. According to a Minnesota study, crying can help to wash chemicals linked to stress out of our body, one of the reasons we feel much better after a good cry.
Dealing with Sorrow : Deep crying is generally felt to be good for you in that it exposes and expresses deep emotions, which in turn means they can then be dealt with.
Dealing with Your Emotions : Some depression has been linked with suppression of emotions, while crying forces you to face and work them out.
Crying Lifts Your Mood : Anyone who has ever had a good cry can tell you, while they aren't 100% again after, they do feel better. This goes back to releasing tension as well as getting time to express emotions that you've been suppressing.
Holding in tears and bottling up your emotions can indeed have negative consequences. How or when will it come back to the surface? It is often better to take some time to yourself and cry when needed so you can control the circumstances under which the tears flow.
You can choose to cry on your own, or with someone whose very presence is a comfort to you.
This is not only for Caregivers, but anyone who gets frustrated or has endured a deep loss. Even years after a sorrowful or emotional event, please take the time, no matter the longevity of it, to give way to your feelings.
Here are some additional links to articles you may find helpful:
- Why Crying Shouldn't Be Taboo – Redbook Article
- Men Don't Cry, But Should – 2KnowMyself Article
- Why Women Cry (and Should!) - Women's Health Article
- Benefits of Crying - New York Times Article
Check back in again over the weekend, as we highlight on the 4th day of “12 Days and 12 WAYS” the “NNPDF gave to you” the ability to get proper rest every night.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 13th, 2013 ~blg]
On the Second "Day and Way" of Caring for the Caregiver
~ Don't Overload Your Daily "To Do" List - Be Realistic ~
Every day we set daily goals for ourselves to keep up with this busy and ever evolving world. It's not only the goals we set for ourselves, but the expectations from others as well, that define how we spend the hours given to us in a day.For someone whose entire day revolves around caregiving though, this can cause a lot of stress because expectations they place on themselves and outside sources are higher.
We would like to offer you a “quick tip” to work into the start of every morning….we want to help you to put your day into a better, more positive perspective:
"I will be realistic with my goals every day, setting them only to the benefit of the one I'm caring for as well as for myself."
What about external factors? Work deadlines, sudden and unavoidable circumstances?
These will always be a factor of life, but the better way to look at this question is that if you are less stressed when these circumstances arise, then you can better approach them when they come up. The true goal here is to set reasonable short term goals, a routine you are comfortable with so that you can find wiggle room for the things you can't control.
Here are some things that can help you manage your day:
- Keep a calender : Not just any calendar, but one that fits your personality. Something that will make you smile when you go to check dates or add things to it. Remember to write in some time for yourself each day, whether it's a consistant time every day to yourself, or spending time with close friends.
- Plan Ahead : School, Church, & Community Event calenders are always available. Look at the things that need to be done at home, then plan activities around that. Looking at things in advance can show you the possibilities for the upcoming month and give you outside activities to look forward to with family and friends.
- Taking Bites : Large goals are sometimes unavoidable. School, work and holidays can consume a large amount of time. So try taking these large projects/goals and splitting them into smaller increments. You will feel less stressed while doing the activity and it will leave time in between to unwind with your family and friends.
- Don't Stress Over the Things You Can't Control : This is a big one, because we've all been in that moment. It's very easy as a theory, but when you find yourself in that moment it's hard to let go of the anxiety of uncertainty. While it is difficult, it is not impossible. It might help you to talk about it with a significant other, a family member, or a close friend to gain an outsider perspective. When we stress, we tend to have tunnel vision, making it harder to see the issue from another light. As a caregiver, we also tend to internalize things so as not to burden anyone with our issues. You'll find though, that people who care about you are willing to listen.
- Ask for Help: We all have heard of, or been witness to "SuperMom/Dad". The parents who somehow come out on top at the end of the day with a million chores, projects, activities, errands completed and with their hair as perfect as it was that morning. While we cannot help you with the hair, we can let you know the secret of all these super parents. They get help from friends and family.
Planning outside activities in tandem with friends and family sometimes can be the small way you increase your time in a day. Your friend's child goes to the same school as your kids and has a minivan that seats 6? Your sister is going to the grocery store and you happen to be out of milk and eggs? Your mom says if you don't let her babysit her grandkids more often she's going to stalk you on Facebook with embarresing photos from childhood?
People are all around you, every day, meeting their own daily goals and needs who may be very willing to help take some things off your plate along the way.
- Remember - You are Super No Matter What You Accomplish : Think back to when you were a child and how you felt about your parents, grandparents or someone in your life who did so many good things for you without wanting anything in return. How grateful you felt to have them in your life. Have you captured the feeling? Okay, now imagine all those wonderful things, then add on all the things you do on a daily basis as a Caregiver. Got it? That feeling of awed silence? Okay.
This is now YOU. To the one you are giving care to, your kids, your spouse, your friends, family, neighbors and community. Especially in the eyes of the NPD Community.
You don't have to have super powers and a cape to have earned Super status. Every day, in itself, is an accomplishment to be celebrated when time is as precious as it is to our NPD Community. You are a hero simply for doing what you do and maintaining a smile for those you love. It's something to be proud of and celebrated. Never let your shine diminish in your own eyes, when it's blinding the rest of us.
We hope one, or all of these tips are helpful to you. For more time management tips, here are some additional links:
- Balancing Work and Caregiving - Article
- Time Management Strategies for Caregivers - Article
-
Caregiver Stress: Tips for Taking Care of Yourself
- Mayo Clinic Article
Dear NNPDF Friends and Family,
December brings holiday excitement, a magical time of the year for children and adults to get caught up in the hustle and bustle of wrapped gifts, family gatherings, good food and the wonder and hope that a new year will bring into their lives.
For our Niemann-Pick Disease families though, the holiday season can be both difficult and overwhelming. The disease slowly chipping away at our loved ones doesn't take a holiday vacation and the unending grief of having lost a loved one to NPD becomes amplified with the passage of another year.Beginning, Wednesday, December 11, and counting down the ~ 12 DAYS ~ towards the holidays, we will be highlighting ~ 12 WAYS ~ to Care for a Caregiver this holiday season. These 12 WAYS were specifically identified as ways to reduce stress during the upcoming hectic holiday season and assist the Caregiver in taking time for yourself in 2014!
We also want to ask those individuals who know of a Caregiver in their lives, to take the time to reach out in thoughtful and loving support this holiday season. In the upcoming “12 DAYS & 12 WAYS” countdown, we will also be offering suggestions on how best you can offer a helping hand to those important and selfless Caregivers in your lives.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 12th, 2013 ~ blg]
Dear NNPDF Friends and Family,
December brings holiday excitement, a magical time of the year for children and adults to get caught up in the hustle and bustle of wrapped gifts, family gatherings, good food and the wonder and hope that a new year will bring into their lives.
For our Niemann-Pick Disease families though, the holiday season can be both difficult and overwhelming. The disease slowly chipping away at our loved ones doesn't take a holiday vacation and the unending grief of having lost a loved one to NPD becomes amplified with the passage of another year.Beginning today, Wednesday,December 11, and counting down the next ~ 12 DAYS ~ towards the holidays, we will be highlighting ~ 12 WAYS ~ to Care for a Caregiver this holiday season. These 12 WAYS were specifically identified as ways to reduce stress during the upcoming hectic holiday season and assist the Caregiver in taking time for yourself in 2014!
We also want to ask those individuals who know of a Caregiver in their lives, to take the time to reach out in thoughtful and loving support this holiday season. In the upcoming “12 DAYS & 12 WAYS” countdown, we will also be offering suggestions on how best you can offer a helping hand to those important and selfless Caregivers in your lives.
On the First "Day and Way" of Caring for the Caregiver
~ Take Care of Yourself Physically ~When it comes to caregiving, it is very easy ignore your physical needs in favor of your devotion to caring for a loved one. But your physical health can actually help to improve not only your mental health, but can help to de-stress daily.
Exercise promotes better sleep, reduces tension and depression, and increases energy and alertness. If finding time for exercise is a problem, incorporate it into your daily activity. Perhaps the care recipient can walk or do stretching exercise with you. If necessary, do frequent short exercises instead of those that require large blocks of time. Most importantly ~ find activities you enjoy.
Walking, one of the best and easiest exercises, is a great way to get started. Besides its physical benefits, walking helps to reduce psychological tension. Walking 20 minutes a day, three times a week, is very beneficial. If you can't get away for that long, try to walk for as long as you can on however many days you can.
Work walking into your life.
- Walk around the mall, to the store or a nearby park.
- Walk around the block with a friend.
- Walk a note to a co-worker across the office instead of e-mailing them.
- Take the stairs instead of the elevator.
When tension spikes, it can be tempting to put yourself last — but prioritizing healthy eating, physical activity, relationships, and sleep is necessary if you want to avoid making your stress worse.
Check back in tomorrow as we show how on the second day of 12 Days, 12 WAYS the NNPDF gave to you the ability to not overload your daily "to do" list by being realistic with your goals.
For more resources on Caring for a Caregiver, visit the Caregiver Action Network for 10 Tips for Family Caregivers as well as Family Caregiver Toolbox .
[Dec 11th, 2013 ~ blg]
Ara Parseghian Medical Research Foundation Announces
HDACi Clinical Trial
Dateline: 12/10/2013
Dear Families and Friends,
We received an update from Cindy Parseghian, President of the Ara Parseghian Medical Research Foundation, in regards to a clinical trial planned in 2014 for Histone Deacetlase Inhibitor (HDACi).
" We are pleased to announce a clinical trial in a Histone Deacetylase Inhibitor (HDACi) for the treatment of NP-C disease in the summer of 2014. A group of dedicated researchers are collaborating closely to move a HDACi to trials. To read more about the trial please visit the Ara Parseghian Medical Research Foundation web page at www.parseghian.org or the Foundation Facebook page. More information will be forthcoming as the details of the trial are determined. Patient enrollment will be announced after the trial is approved by the FDA.
~ Cindy Parseghian "
To view the announcement you can see it on page 2 of the APMRF Winter 2013 Newsletter , or visit their website .
[Dec 11th, 2013 ~ blg]
Wall Street Journal Follow-up Article:
Trials: A Race to Save a Boy
As a follow-up entry to the Wall Street Journal Article, " Trials: A Desperate Fight to Save Kids and Change Science ", Amy Dockser Martin blogs about her time with the Papier Family.
The blog is a photo album, following Dillon through his first surgery in February, a typical day for the Papier family between home & school life, as well as once the Cyclodextrin clinical trial resumed. Like the original article, it's a fascinating and intimate look into one family's fight to save their child's life.
As Darrile Papier has said, " There has to be a first child who survives Niemann-Pick Disease. Why couldn't it be Dillon? "
You can view the article: HERE
[Dec 11th, 2013 ~ blg]
Giving the Gift of Hope & Getting Through The Holidays
The latest e-Newsletter was just sent out and is available as a precursor to our 12 Days, 12 Ways campaign.
We'll be counting down the 12 days till Christmas, highlighting each day a way our caregivers can take care of themselves during this busy and sometimes stressful season. We also pay tribute to those we've lost in 2013.
The NNPDF Staff wishes you all a safe, warm and happy holiday season.
Click the Banner to View the e-Newsletter
[Dec 10th, 2013~blg]
Worldwide Candle Lighting
Dear Friends and Families,
The Compassionate Friends Worldwide Candle Lighting unites family and friends around the globe in lighting candles for one hour to honor the memories of the sons, daughters, brothers, sisters, and grandchildren who left too soon. As candles are lit at 7:00 p.m. local time, hundreds of thousands of persons commemorate and honor the memory of all children gone too soon.
Now believed to be the largest mass candle lighting on the globe, the 17th annual Worldwide Candle Lighting, a gift to the bereavement community from The Compassionate Friends, creates a virtual 24-hour wave of light as it moves from time zone to time zone.
Please join us in honoring those who lost their fight with Niemann-Pick Disease in 2013, and all those who were gone too soon.
Top Row: Gregorio Noel Martinez III (NPA), Amber Ashlee Jelsma (NPA), Joseph "Chase" Jackson (NPC),
Mario Ismael Najera (NPC)
Center Row: William Chad Mayo (NPC), Dana Jesse Marella (NPC), Jerry James Wilson (NPC)
Bottom Row: Quinn Madeleine Linzer (NPA), Lily Anna Beaupre (NPA), Riley Gene Robbins (NPA),
Taylor Marie Wauters (NPC)
[Dec 6th, 2013 ~ blg]
~ Community
Alert
~
Reddit "Ask Me Anything" Hosted by Dr. Chris Austin & Amy Dockser Marcus
Wednesday, December 4th ~
1:00 p.m. ET
Dear Families and Friends,
Dr. Chris Austin from National Institutes of Health's National Center for Advancing Transitional Sciences (NCATS) will join Amy Dockser Marcus of the Wall Street Journal for a Reddit AMA (short for “Ask Me Anything) at 1 p.m. ET on Wednesday, December 4.
Date: 12/04/2013, 1:00p.m. (ET)
Title: Reddit AMA: Rare Diseases and the Research Process
Participants: Everyone welcome!
Hosts: Dr. Chris Austin (NCATS) and Amy Dockser Marcus (Wall Street Journal)
Where: Reddit's Ask Me Anything (direct link to discussion)The discussion is open for everyone to participate as Dr. Austin & Amy Dockser Marcus answer readers’ questions about rare diseases and the research process.
"AMAs" (for "Ask Me Anything") are prompts for others to ask questions about any topic. AMAs are open to all Reddit users, and use the site's comment system for both questions and answers.
To register to participate: Click HERE
* no e-mail required to registerOnce registered, you can visit the link (provided on 12/04/2013) and contribute by simply using the comments box to add to the discussion.
From the Wall Street Journal Blog :
For years, Christopher P. Austin has been trying to develop a way for science to build a better partnership with patients.
Dr. Austin is director of the National Center for Advancing Translational Sciences (NCATS), part of the NIH. NCATS is trying to find ways to get new treatments and cures for diseases delivered to patients faster.
At NCATS, Dr. Austin heads a state-of-the-art lab that uses robots to search for treatments.
In recent years, families of patients with rare diseases have made their way to the NIH to watch the robots at work in the $20 million, 30,000 square-foot system that includes refrigerators, automated incubators and computers. Machines work around-the-clock, testing hundreds of thousands of compounds against a variety of mostly rare diseases.
One of the first parents to visit was a woman whose college-age son had a rare cancer. During a tour in 2006, Dr. Austin told her that instead of 17 years to develop a new drug, he hoped that the lab could cut the time to 10 years.
“ ‘I love your technology,’ ’’ Dr. Austin recalled the woman saying. “ ‘I love your robots. I love this fancy stuff. But for my child and this disease, 10 years, 15 years, isn’t going to work. Isn’t there something else we can do?’ ’’
It is a question he hears again and again. There are roughly 7,000 known diseases; only about 500 have a treatment. Even with robots working day and night, Dr. Austin said, the arithmetic is discouraging.
We will bring you the link once it is available tomorrow so you can join in! Stay tuned!
[Dec 3rd, 2013 ~ blg]
National Giving Tuesday!
We provided you with ways to benefit the National Niemann-Pick Disease Foundation in prep for Black Friday, which included plenty of online options to shop on Cyber Monday. Today, December 3rd, is #GivingTuesday - a national day to give to charities!
Today millions of American’s will make a difference by participating in this new national day of giving! Will you join them and jumpstart the holiday giving season with a gift to the NNPDF?
Here's how you can contribute:
- Donation through Network For Good ! (Credit card & Paypal donations!)
- Contribute through United Way or Combined Federal Campaign
- Shop Online to benefit the NNPDF!
- Click Here for other ways to make a donation!
Your generosity today will help us in continue to Persevere towards our Quest for a Cure. One day we will stand together hand in hand in celebration that a cure has been found for Niemann-Pick Disease!
[Dec 3rd, 2013 ~ blg]
From Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
GoodShop is an on-line third party retailer, similar to iGive, which sends a portion of the total purchase cost made through their links along to the NNPDF ~ but they also have some FUN additions that set them apart!
GoodShop offers the added bonus of coupons, as well as, access to travel and hotel web sites ~ all which then send a percentage of your total purchase on the foundation.
Planning to travel for the Holidays or New Years? Expedia, Travelocity, Priceline and Hotels.com all give a percentage of your purchase to benefit Niemann-Pick Disease!
Registering is easy, and once you're signed up you have access to hundreds of stores and GoodShop's other services (see GoodSearch below).
- Click Here to register.
- It will ask you to search for and choose your cause: National Niemann-Pick Disease Foundation
- Then you can either sign up via Facebook, or by your e-mail.
That's it! Now you can begin searching for your favorite stores and start shopping for a good cause!
Whether you're looking for a gift to give, or traveling this holiday season, GoodShop is an easy way to make a donation to the NNPDF while doing what you were already planning to do!
We search online every single day without a second thought, but what if we told you that each one of your searches could produce funds to benefit the NNPDF?
Affiliated with Goodshop, is Goodsearch, an online search engine that sends $.01 to the NNPDF for every linked search you utilize!
Better yet, if you're already signed up for Goodshop, or any of their other affiliated donation generators ( GoodSurveys , GoodGames etc.) you're already registered to use Goodshop! Just look for the Goodsearch tab at the top of your screen!
Signing up is simple:
- Register and choose the National Niemann-Pick Disease Foundation as your supported foundation.
- Once signed in, start using their search engine every day as you normally would any search engine. Make www.goodsearch.com your home page if it helps remind you!
- For every search you click a link from the results page, Goodsearch gives $.01 to the foundation, which adds up fast!
- It even keeps track so you can see how much YOU have earned on our behalf!
It's something so simple that can mean the world to our Families. Won’t you please help to support us as we Persist on in our Quest for a Cure?
We hope our families and friends have a safe, warm and happy holiday this week and thank you for all you do for the NNPDF Community. Our warmest wishes to you and yours!
[November 27th, 2013 ~ blg]
From Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
Charm bracelets & necklaces have increased in popularity over the last few years, thanks in great part to the multitude of beads made available to represent an individual and mark memorable occasions which allows the final piece of jewelry to be unique to its wearer. Now you can add Niemann-Pick Disease Awareness to your, or a loved one’s, collection of charm/beads!
Thanks to the creativity of NNPDF Board Member, Becky McGuire, who drew inspiration from her cousin, Kelly Thompson (NPC), the NNPDF is pleased to announce that a Pandora-like glass bead is NOW AVAILABLE ! The bead is compatible with Pandora, Chamilia, Biagi, Troll and most European bracelets.
The “PERSEVERE FOR LIFE” glass bead was designed to specifically incorporate the color of the National Niemann-Pick Disease Foundation’s NPD awareness hue of “Periwinkle Blue”. The addition of, “PERSEVERE FOR LIFE” etched onto the side of the bead speaks to our continued determination. The circular band designs intertwined together within the glass bead represent our perseverance in support of our NPD loved ones and our unrelenting pursuit towards a Quest for a Cure!
for the Persevere Bead Order Form
Check in tomorrow for our LAST countdown to Black Friday post! Wednesday we will take a closer look at the Goodshop & Goodsearch ! In the meantime, feel free to visit the updated NNPDF Store , or view the most recent e-Newsletter for more shopping ideas!
[Nov 26th, 2013~blg]
From Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
Use the Code mcguire079 to get 10% off your order!
Bravelets™ is a non-profit organization that gives people the ability to create jewelry to raise awareness for the cause that touches their lives. Now, thanks to support from NNPDF Board Member, Becky McGuire, cousin of Kelly Thompson (NPC), the NNPDF have their own line of Bravelets “Periwinkle” jewelry.
This beautiful jewelry will not only delight anyone who receives this gift, but it is also an eye catching way to open and build a discussion about Niemann-Pick Disease awareness.
For every piece of jewelry sold, $10 will be donation to fight Niemann-Pick Disease!
The Original Bravelets ™
$35.00
- The women’s bracelet is made of 316L stainless steel and genuine leather.
- The men’s bracelet features dark brown bolo leather and smooth colored leather and the adjustable bracelet is made of braided cord and stainless steel.
Check out the NEW items from Bravelets!
$25.00 $35.00 $35.00
Becky McGuire recently added more options to the NNPDF Bravelet™ catalog! Rings, necklaces & different variants on the bracelets are now available!
to view the Bravelets™ online shopBravelets™ are made to help you be brave during tough times.
Wear it proudly for yourself or for a loved one!
Stay tuned for Tuesday's post as we take a closer look at the Persevere Bead ! In the meantime, feel free to visit the updated NNPDF Store , or view the most recent e-Newsletter for more shopping ideas!
[Nov 25th, 2013~blg]
From Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
Direct Link: http://smile.amazon.com/ch/35-1844264Amazon is one of the largest and most well-known store sites for online shopping. You can find almost anything there, which is why so many people use it when it comes time to purchase gifts for loved ones & items for themselves, especially during the holiday season. Why not further the benefits by ensuring that your on-line holiday shopping will result in a donation to the NNPDF as well?
AmazonSmile is a simple and automatic way for you to support the NNPDF every time you shop, at no cost to you. When you shop at smile.amazon.com after registering, you’ll find the exact same low prices, vast selection and convenient shopping experience as Amazon.com, with the added bonus that Amazon will donate 0.5% of the purchase price to the NNPDF!
Registering is easy!
- Visit: http://smile.amazon.com/ch/35-1844264 & sign in under your current amazon account, or register one if you are a first time user. It may ask you if you want to support the NNPDF in a pop up, click yes to continue.
- You'll notice when it returns you to the AmazonSmile home page the top left corner now says " Supporting : National Niemann-Pick Disease Foundation". This is how you'll know it registered correctly.
- Make sure you always go to www.smile.amazon .com so your account registers the donation upon checkout. Bookmarking the address can help as a reminder to! If you use the standard www.amazon.com link, purchases made will not register to benefit the NNPDF.
You may wonder how you'll know if an item qualifies for a donation to the NNPDF, as there are some restrictions when a donation WILL NOT be made to the NNPDF (ie: Gift Cards ~ please NOTE ~ iGIVE DOES send a donation percentage to the NNPDF when gift cards are purchased )…..follow these simple tips:
~ While on a product's page, you'll be looking for the text below, which is usually placed under the area where it says if the product is in stock or not.
That's it! Upon checkout you will have provided funds to the NNPDF without doing anything more than shopping! It's the gift that keeps on giving!
Feel free to contact us if you have any questions regarding AmazonSmile, and happy shopping!
We'll give you a break over this weekend to get some shopping in, but stay tuned for Monday's post as we detail the benefits of the beautiful Bravelets™Jewelry .
In the meantime, feel free to visit the updated NNPDF Store , or view the most recent e-Newsletter for more shopping ideas!
[Nov 22nd, 2013~blg]
From Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
The popularity of wristbands cannot be denied, as they are not only a simple way to wear your cause, but also as a constant reminder of who we fight for in our Quest for a Cure!
Recently updated with "Persevere for Life" engraved along the band, these periwinkle wristbands are so versatile they can be used all year round as:
- Local fundraiser items to help build a sense of community, whether as saleable items or handouts - both of which to help promote awareness
- Party favors in grab bags for birthdays or holidays
- Stocking Stuffers!
- Crafters can put their own creative spin on it - why not link them together to make a holiday wreath?
- Purchase one for yourself in Honor or Memory of a loved one as a lasting keepsake, while simultaneously helping to fund needed research.
YOU can help raise Awareness, but you can also give something that means so much more than a standard gift does. The gift of Hope for a better tomorrow for all NPD patients and their families.
Wear the Cause in your Heart on your Wrist.
* Youth & Adult Sizes available.
Stay tuned for Friday's post as we take a closer look at how shopping on Amazon.com can benefit the NNPDF! In the meantime, feel free to visit the updated NNPDF Store , or view the most recent e-Newsletter for more shopping ideas!
[Nov 21st, 2013~blg]
From Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
Lisa Chavez, of New Mexico and Mom to Breann (who passed away in 2006 at age 3 from NPC), hand-crafts the special PERSEVERE candles to benefit the NNPDF. A Whopping 40% of the total sale cost for these items will be donated directly back to the NNPDF! Wow ~ what a GREAT way to give a wonderful gift and support the NNPDF to boot!
Just in time to help with your holiday gift giving, Lisa has created a NEW “PERSEVERE for Life” line of hand-crafted products including both candles and lotion! For those who have had the opportunity to attend the NNPDF annual family conferences and are welcomed into the large conference session rooms by the warm, beautiful scent of the memorial candles ~ these candles are made with the same comforting warm aroma ~ Butterfly Kisses.
Both the candles & lotion are scented with the NNPDF signature Butterfly Kisses scent (aka Creamsycle). Special sizes and prices for our NNPDF family membership are:
- 16 oz. tin candle - $20
- 8 oz. tin candle - $12
- 8 oz. lotion - $10
For NPD Willow Wick Candles and order form information please visit the Niemann-Pick Fundraiser Candles page . Remember ~ 40% of the total sale cost will be donated to the NNPDF in support or in honor of your loved one.
Stay tuned for Thursday's post ~ it will prove to be a REAL STOCKING STUFFER ~ as we take a closer look at the Persevere Wristbands . In the meantime, feel free to visit the updated NNPDF Store , or view the most recent e-Newsletter for more shopping ideas!
[Nov 20th, 2013~blg]
From Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
PersevereWEAR!
Naomi (NPC), Olivia, Rebekah & Mary TyrrellThere are many ways to raise awareness, but with PersevereWEAR you can make a statement to the world and open up a dialogue to share information about Niemann-Pick Disease simply by wearing it!
“Persevere” and PersevereWEAR, originally designed and promoted by Lorna Tyrrell in support of her sweet baby girl, Naomi (NPC), has grown to become the battle cry for all the families of the NNPDF. Over the years, “PersevereWEAR” clothing items have developed into a staple for fundraisers and families alike. Not only is the wearer able to show their unending support of their loved one diagnosed with NPD but they also help raise awareness into NPD and “PersevereWEAR” is an easy “and stylish” way to raise funds in support of NNPDF service programs and urgently needed research.
Naomi Grace Tyrrell
August 18th, 2002 ~ July 6th, 2012Now, thanks to collaboration between the NNPDF and Screen Designs, the foundation is able to bring you a wider range of “PersevereWEAR” items ~ t-shirts, sweatshirts, hoodies, visors and hats ~ all at a discounted price. With new colors, a wide range of sizes that is certain to please all of the adults and children on your holiday gift list.
While most people associate the “PersevereWEAR” with fundraising, they also make wonderful gifts for friends and family! Winter is upon us and a warm sweater can go a long way in keeping loved ones warm, while helping to raise awareness.
New as well, is the ability to work directly with Frank Ferrari of Screen Designs and Promotions (SDP) to create a custom shirt specific to your fundraising event, or perhaps you wish to design something more personal to give as gift this Holiday season!
With “PersevereWEAR”, the possibilities are endless! Simply follow the link below to the SDP web site in to begin your shopping experience in support of the NNPDF.
* Cost of custom and regular PersevereWEAR benefits the NNPDF directly.
Looking forward to sharing Wednesday’s post rolling out the NEW Willow Wick Candles created specifically for our NNPDF family membership this Holiday season! ! In the mean time, feel free to visit the updated NNPDF Store , or view the most recent e-Newsletter for more shopping ideas!
[Nov 19th, 2013 ~ blg]
Beginning today, Monday, November 18th through Wednesday, November 27th, the NNPDF will be highlighting one Holiday Gift Giving option a day leading up to "Black Friday" ~ November 29th ~ to show how easy it is to find the perfect online gift for a loved one while benefiting the NNPDF!
Please pass along these links and ideas to your extended friends and family a-like and check back daily for new ways in which you can help give the gift of hope this holiday season!
Click HERE or the logo above to register!
As we kick off the start of our Black Friday countdown, we wanted to start with something that can speak to everyone. From the hard core, to the casual online shopper, iGive.com is perfect for all types!
So what is iGive and how can it be used to benefit the NNPDF? In more ways than you think!
When you sign up using our specific link , which will automatically set the foundation you wish to benefit as the NNPDF, you have two choices:
- I want to browse stores through iGive's web site - This means you visit iGive.com and browse their large catalog of stores that, when the links are clicked, will automatically detect that proceeds for purchases go to the NNPDF upon check out on retailer's web sites.
- I want iGive to tell me what sites benefit the NNPDF as I visit them on my own - This requires the free iGive Button, which sits in your internet browser. As you visit web sites, you'll get a popup telling you automatically if purchases from that site will benefit the NNPDF. The download is simple and quick!
iGive also gives you the chance to buy Gift Cards , while still benefiting the foundation! While viewing the list of stores on the iGive web site, you can use "Options" to narrow it down to only stores who offer gift cards, like: Kohls, Gamestop, Lowe's, Forever 21 & Cabela's just to name a few!
It has never been easier to purchase for loved ones and benefit the NPD community at the same time! You were planning to shop online, why not take that one extra step and make each purchase count to a better tomorrow?
Give the Gift of Awareness... Give the Gift of Hope!
We'll catch you tomorrow when we talk about the new PersevereWEAR line ! In the mean time, feel free to visit the updated NNPDF Store , or view the most recent e-Newsletter for more shopping ideas!
[Nov 18th, 2013 ~ blg]
Holiday Online Shopping to Benefit the NNPDF ~ Just in the "Nic" of Time
The NNPDF has issued a "Black Friday" Holiday Online Shopping E-newsletter chock full of shopping gift giving ideas to assist you in finding the PERFECT item for all the loved ones on your Holiday "Gift" list!
Even better ~ share this link with all of your family and friends! Every gift item and suggestion noted in the E-newsletter below ~ will directly benefit programs sponsored by the NNPDF ~ research and family services assistance.
What better way to ensure that your NAME appears on the "NICE" list this holiday season?Holiday greetings and best wishes to all!
~Nadine
[Nov 18th, 2013~blg]
~Cyclodextrin Update~
“Trials ~ A Desperate Fight to Save Kids & Change Science”
|
For six years, The Wall Street Journal followed a group of parents and scientists seeking a treatment for a rare and fatal genetic disease that strikes primarily children. Their collaboration accelerated development of a promising drug and, along the way, pushed the boundaries of medical research itself.
Follow this link to learn more about the story associated with Niemann-Pick Disease Type C here:
Trials: A Desperate Fight to Save Kids & Change Science
- Chapter 1: The Children’s Crusade
- Chapter 2: Home Remedy
- Chapter 3: Do No Harm
- Chapter 4: Living Proof
- Chapter 5: Orphan Drug
- Chapter 6: Gathering Force
- Chapter 7: Crossroads
- Chapter 8: The Trials
- Chapter 9: Citizen & Scientist
- Chapter 10: Epilogue
The members of the National Niemann-Pick Disease Foundation would like to offer a genuine note of thanks and heartfelt gratitude to the many individuals, families, community members, advocacy groups, as well as, esteemed members of the research and scientific community who all came together in a truly collaborative effort to see this process through to a clinical trial.
A sincere note of thanks and appreciation goes out to this articles author, Amy Dockser Marcus, of The Wall Street Journal and her team of photographers, Evan Simon and Melissa Golden, for her unending devotion, dedication and perseverance, not only to the written word on the page which portrays the desperation and heartbreak that our Niemann-Pick Disease Families face at the diagnosis of their loved one, but to know how genuinely Ms. Marcus connected with the children and families she had the opportunity to work with. She gathered them close, held them in her heart and helped them to build treasured memories. For that, we are especially indebted.
Last, but certainly not least, are the sweet children and young adults diagnosed with Niemann-Pick Disease, whose families took the courageous step to move outside of their “safe-harbor” comfort zones and moved into the wider community and news media to share their families tragic diagnosis, knowledge, experience and personal sorrow. All of our Niemann-Pick Disease families will be forever grateful to those who braved sharing their heartbreak and personal circumstances for the wider NPD community.
We WILL one day, all stand together, hand-in-hand, and declare that we have Persevered in Our Quest for A Cure!
~ National Niemann-Pick Disease Foundation
[Nov 14th, 2013 ~ blg]
Orphazyme Update - 10/31/2013
Orph001 (rhHSP70) Project ProgressDear Families and Friends,
The NNPDF Central Office received an update pertaining to the current research and clinical trial work as it relates to Orphazyme and their proposed clinical trial titled: Orph001 (rhHSP70).
Dear Reader,
We would like to update you about the progress of the Orph001 clinical development programme.
With the aim of reaching the highest achievable quality in standards and procedures certain amendments have been introduced into the Orph001 development programme to ensure full dose definition, and high alignment to regulatory recommendations and requirements in Europe and US.
Please, let us give you a short review of our development program and the steps ahead.
[Nov 5th, 2013 ~ blg]
~October 31st, 2013~
The International Niemann-Pick Disease AllianceDear Families and Friends,
On the 31st day of our October NPD Awareness month events, we are highlighting the work of the International Niemann-Pick Disease Alliance (INPDA) based out of the United Kingdom.
As we wrap up October Niemann-Pick Disease Awareness Month, we would like to take the time to remind our community that Niemann-Pick Disease is a global disease, that affects people of all nationalities and in all countries around the globe.
While the NNPDF and CCNNPDF work diligently to extend support to any and all families that reach out and contact us, there are times where distance and language do become a barrier in supporting NPD family needs. For this, we are very grateful to have the International Niemann-Pick Disease Alliance, which helps us to bridge such gaps. The INPDA states that the group is an, "International response to a group of diseases that present challenges that cross all national boundries."
INPDA Members during the 2013 Family Support and Medical ConferenceThe International Niemann-Pick Disease Alliance was formed in October, 2009 with a view of providing a forum, where, through the exchange of information, experience and knowledge, progress could be accelerated.
In 2013 a grant was granted to the INPDA in support of creating the FIRST Niemann-Pick Disease International Registry database, which will help provide with accurate numbers of those affected with NPD around the world, as well as allowing us to support a wider spectrum of families.
To learn more about the International Niemann-Pick Disease Alliance (INPDA): Click Here
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
Well NPD families and friends far and wide, we made it through another ~ "October as Niemann-Pick Disease Awareness Month"! It is exciting to note that during October 2013 we had higher levels of family enthusiasm and involvement from our NPD membership communities than we have ever had in the past. For this we are so very appreciative and grateful!
Thanks for being so tolerant of our daily updates and highlights ~ but ~ our goal was to reach out and share additional information about the work and goals of the foundation all in support of YOU ~ our NPD family membership!
Once again, our appreciation runs deep as we continue to Persist in our Quest for a Cure!
Nadine
[Oct 31st, 2013~nmh]
~October 30th, 2013~
NPD Clinical Trials ~ Recent UpdatesDear Families and Friends,
On the 30th day of our October NPD Awareness month event highlights, we are turning the spotlight to the recent updates which the NNPDF has received pertaining to the status of the two ongoing clinical trials into treatment options for both NPD Type C and NPD Type B (ASMD).
A clinical trial study for NPD Type C patients in the use of Cyclodextrin (2-hydroxypropyl-β-cyclodextrin) is being conducted at the National Institutes of Health (NIH) and Genzyme, (a Sanofi Company), is sponsoring a clinicla trail at Mount Sinai School of Medicine for NPB (ASMD).
It should be noted that 2013 has been a breakthrough year for the NPD Community. Between the NIH/TRND NPC Cyclodextrin & Genzyme sponsored Enzyme Replacement Therapy (ERT) clinical trials, patients courage and determination to take this brave step into the unknown has only intensified all of the NNPDF's family membership resolve that we MUST Persist on in our Quest for a Cure! WE WILL PERSEVERE!
Below, we are highlighting the ongoing status updates for both of these clinical trials:
National Institutes of Health Latest Update
on the NIH/TRND NPC Cyclodextrin Trial
10/23/2013
Dillon Papier (NPC) with NIH Pediactric Nurse,
Nicole (Yanjanin) Farhat
As families around the WORLD continue working together in their communities to raise awareness into Niemann-Pick Disease through unique campaigns and fund raising events this October, it only seems fitting that we should receive an update from the National Institutes of Health (NIH) / Therapeutics for Rare and Neglected Diseases (TRND) Cyclodextrin Clinical Trial Team, as to the status of the NPC Cyclodextrin Clinical Trial of 2-hydroxypropyl-β-cyclodextrin.
Please find the most recent update from the NIH/TRND Team on the NNPDF's Cyclodextrin Page
~ ~ ~ ~
Update from Genzyme on Acid Sphingomyelinase Deficiancy
(ASMD) Development Efforts
10/25/2013
Kim Greenberg (NPB) & Ann Tilley OConnor-smith (NPB)
at Mount Sinai receiving Enzyme Replacement Therapy
treatments together.Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for Acid Sphingomyelinase Deficiency (ASMD), also known as, Niemann-Pick disease Types A and B.
Visit the NNPDF Enzyme Replacement Therapy Page for the full press release .
Every day in the month of October we will be sharing fundraising ideas and highlight special events to help families keep the momentum going. The NNPDF is here to help and support you with these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the entire NPD Community. Contact: [email protected] .
The countdown is almost OVER ~ ONE day to go!
[Oct 30th, 2013~blg]
~October 29th, 2013~
Meet the International Scientific Advisory BoardDear Families and Friends,
On the 29th day of our October NPD Awareness month events, we are continuing to introduce our NNPDF International Scientific Advisory Board and recognizing their hard work on behalf of all families touched by NPD.
All members of our esteemed Scientific Advisory Board and Board Of Directors contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our SAB.
Dr. Marc C. Patterson, M.D., FRACP
Chair, Division of Child and Adolescent Neurology; Professor of Neurology, Pediatrics & Medical Genetics; Director, Child Neurology Training Program; Mayo Clinic Children's CenterClick Here to read Dr. Patteron's Biography
Marc Patterson, M.D. Web Page
Dr. Stephen Sturley, Ph.D.
Associate Professor of Clinical Nutrition
Institute of Human Nutrition ~ Columbia UniversityClick here to read Dr. Sturley's Biography
Stephen Sturley, Ph.D. Web Page
Dr. Jean Gruenberg, Ph.D.
Professor of Biochemistry
University of Geneva - Sciences IIClick here to read Dr. Gruenberg's Biography
Jean Gruenberg, Ph.D. Web Page
Dr. Maria Dolores (Lola) Ledesma, Ph.D.
Centro Biologia Molecular Servero
Ochoa, Madrid, SpainClick here to read Dr. Ledesma's Biography
Maria Dolores (Lola) Ledesma, Ph.D. Web Page
Dr. Heiko Runz , M.D.
Specialist in Medical Genetics
University of Heidelberg, Germany
Click here to read Dr. Runz's Biography
Heiko Runz , M.D. Web page
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 29th, 2013~blg]
~October 28th, 2013~
Meet the International Scientific Advisory BoardDear Families and Friends,
On the 28th day of our October NPD Awareness month events, we are continuing to introduce our NNPDF International Scientific Advisory Board and recognizing their hard work on behalf of all families touched by NPD.
All members of our esteemed Scientific Advisory Board and Board Of Directors contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our SAB.
Dr. Steven Walkley, D.V.M., Ph.D.
Professor, Department of Neuroscience, Albert Einstein College of MedicineClick Here to read Dr. Walkley's Biography
Steven U. Walkley, D.V.M., Ph.D. Web Page
Dr. Laura Liscum
Professor of Physiology, Tufts University School of MedicineClick here to read Dr. Liscum's Biography
Laura Liscum, Ph. D. Web Page
Dr. Edward H. Schuchman, Ph.D.
Genetic Disease Foundation - Francis Crick Professor
Vice Chairman for Research
Professor of Gene and Cell Medicine - Mount Sinai School of MedicineClick here to read Dr. Schuchman's Biography
Edward H. Schuchman, Ph.D. Web Page
Dr. Schuchman Recognized for Work on NPD
Andrea Ballabio, M.D.
Scientific Director, Telethon Institute of Genetics and Medicine
Click here to read Andrea Ballabio's Biography
Andrea Ballabio, M.D. Web page
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 28th, 2013~blg]
~October 27th, 2013~
Meet the International Scientific Advisory BoardDear Families and Friends,
On the 28th day of our October NPD Awareness month events, we are continuing to introduce our NNPDF International Scientific Advisory Board and recognizing their hard work on behalf of all families touched by NPD.
All members of our esteemed Scientific Advisory Board and Board Of Directors contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our SAB.
Dr. Fran Platt, Ph. D.
Professor, Biochemistry and Pharmacology
University of OxfordClick Here to read Dr. Platt's Biography
Fran Platt, Ph.D. Web Page
Dr. Marie Vanier, M.D., Ph.D.
Research Director
INSERMClick here to read Dr. Vanier's Biography
Marie Vanier, M.D., Ph.D. Web Page
Dr. Andrew Lieberman, M.D., Ph.D.
Associate Professor and Director, Neuropathology
University of Michigan Health SystemClick here to read Dr. Lieberman's Biography
Andrew Lieberman, M.D., Ph.D. Web Page
Dr. Forbes "Denny" Porter, M.D., Ph.D.
Senior Investigator, Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics
Natl. Institute of Child Health & Human Development
National Institutes of Health
Click here to read Dr. Porter's Biography
Forbes "Denny" Porter, M.D., Ph.D. Web page
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 27th, 2013~blg]
W. Chad Mayo
02/06/1974 ~ 10/25/2013
W. Chad Mayo (NPC ~ Age 39)Dear Families and Friends,
It is with great sorrow that we must inform the Niemann-Pick Disease Community that W. Chad Mayo passed away from NPC on Saturday, October 26th at the age of 39 years. Chad's Mom, Margaret, and his brother, Cory, shared the following sentiments with the NPD community.
Dear Nadine and NPC extended family,
I've read these notices over and over for years and never looked forward to the time that we would have to write one ourselves but on October 25, 2013 our sweet Chad left this earth to join his Heavenly Father and loved ones that have gone before him.
We feel blessed to have had the privilege to share Chad's life for 39 years but it's never long enough. We already miss his presence and his infectious laugh.
Thank you to so many that kindly sent a card and note sending Chad their warm sentiments. Chad was home with his family, the week prior to his passing his younger brother and his family were able to take Chad for several walks as we had been blessed with lovely weather. Quite a few friends and family came to visit Chad. Our aim was to make his remaining time as "happy" and loving and as normal a routine as possible. The second week became more challenging with Chad's regression but we are so grateful for the time that we had been afforded. Chad passed peacefully with his family and close friends around him at 6:30 pm in the comfort of his own bedroom.
Thank you again for the years of interest, concern and love shown from the NPC family.
In Christian love,
Bill, Margaret, Cory/Lindsey and Troy/Joyce Mayo & grammie
Chad's brother Cory shared these loving words with us:
It is with great sorrow that I must inform you that today, Oct 25th, Heaven received yet another angel. My brother, W. Chad Mayo passed in peace. I am so proud of my brother for his amazing fight. For the past 20 years he fought a battle with Niemann Pick Type C, and continued to prove all the doctors wrong. He fought and wouldn't stop until his last breath. I am honored to share this family name"Mayo" with you. Godspeed my brother, and sweet dreams. Until we meet again. I will love you always!!
To all of Chad's family, friends and all those who loved and held him dear.....please know that all of your Niemann-Pick Disease family is moving with a heavier heart today after learning that the bright light in your lives, your handsome son, Chad, has passed away. For years we have learned of Chad's challenges and sent off best wishes and words of comfort and support to Margaret and family. Time after time, Chad showed his stength of spirit and grace as he would battle back from the brink. His strength and perseverance shined through!
Please know that the hearts of the entire NPD community is heavy with heart-ache and are sharing in your grief. May the comfort and love of friends and family carry you on in the days, weeks and months ahead without Chad as a part of your lives.
With heartbreak and sadness,
Nadine
For Chad's services, Memorial or to send your condolances you can visit: Here
[Oct 26th, 2013 ~ nmh, UPDATED: Oct 29th, 2013 ~ blg]
~October 26th, 2013~
Meet the International Scientific Advisory BoardDear Families and Friends,
On the 26th day of our October NPD Awareness month events, we are introducing our NNPDF International Scientific Advisory Board and recognizing their hard work on behalf of all families touched by NPD.
All members of our esteemed Scientific Advisory Board and Board Of Directors contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our SAB.
Dr. Daniel S. Ory, M.D.
Chair, Scientific Advisory BoardClick Here to read Dr. Ory's Biography
Daniel S. Ory, M.D. Web Page
Dr. Ory Named Wolff Professor
Dr. Peter Pentchev, Ph.D. (Retired)
Emeritus ScientistClick here to visit Dr. Pentchev's Tribute Page
Dr. Jean Vance, Ph.D.
Professor, Division of Endocrinology, University of AlbertaClick here to read Dr. Vance's Biography
Jean E. Vance, Ph.D. Web Page
Dr. Yiannis Ioannou
Associate Professor, Genetics & Genomic Science
Mount Sinai School of Medicine
Yiannis A. Ioannou, Ph.D Web page
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 26th, 2013~blg]
|
Update from Genzyme on
|
Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
Visit the Enzyme Replacement Therapy Page for the full Press Release.
[Oct 25, 2013~blg]
~October 25th, 2013~
October Awareness Events ~ NNPDF 940-WFAW Radio Interview
Dear Families & Friends,
On the 25th day of our October NPD Awareness month events, we are focusing our daily highlight on an audio link to a local Fort Atkinson, Wisconsin (home of the NNPDF Central Office) radio interview with past NNPDF Board Chair, Barb Vorpahl, and NNPDF Executive Director, Nadine Hill in recognition of October as NPD Awareness month.
Barb Vorpahl & Nadine Hill (with Breann Chavez ~ NPC)
at the California ConferenceOn October 23rd, radio newscaster, Michael Clish of 940 WFAW, and long-time friend of the NNPDF, invited Barb Vorpahl & Nadine Hill to take part in local “Morning Show Radio” interview to help raise awareness into NPD. The local Fort Atkinson and Jefferson County, Wisconsin communities have been strong supporters of the Vorpahl family and the NNPDF for the past 21 years. October is an especially heartbreaking month for the Barb and Gary Vorpahl household as their darling daughter, Stacey, lost her courageous battle to NPC on October 9th, 2004 at 19 years of age.
The NNPDF is appreciative of WFAW radio for affording the NNPDF this opportunity to raise awareness into NPD within the community and for allowing us access to the presentation via an MP3 recording for your listening pleasure.
Click Here to Download the 940 WFAW Interview
Please note the interview is the first 29 minutes of the full morning show presented in this MP3.
Fundraising Spotlight:
Making Strides for Niemann-Pick Research
Saturday, October 26th, 2013
Phil Mederia Wylder Laffoon (NPA)The Genzyme marathon team embarks on a 26.2-mile journey each year on behalf of patients living with rare diseases. Since 2008, a team of Genzyme employees has run the Boston Marathon for the National Organization for Rare Disorders (NORD). This year the team raised over $70,000 for NORD to support their project "Promote Early Diagnosis."
As part of this team, Phil Maderia, an engineer at Genzyme, ran in memory of Wylder Laffoon (05/15/09 - 07/20/12, NPA) at this year's Boston Marathon.
Moving forward, Phil will now not only run this year's Ghost Train Rail Trail 100 Mile Race , in Milford, NH, with Wylder on the forefront of his mind and prayers …. He will now run for Trek, Jacob, Kaitlyn, Quinn, Riley, Faith, Lily, Amber and all children with Niemann-Pick Disease Type A who have tragically succumbed to this devastating illness.
View Shannon Laffoon's blog post on this Upcoming Event
If that isn’t enough, Phil is putting on a mini-fundraiser for this marathon looking for virtual runners. All of the proceeds are going to go to Wylder Nation Foundation! Shannon will give us more details on this as it becomes available.
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 25th, 2013~blg]
~October 24th, 2013~
Meet the NNPDF Board of Directors
~Day 4~Dear Families & Friends,
On the 24th day of our October NPD Awareness month events, we are continuing to introduce our NNPDF Board of Directors and recognize their long journey of courage, kindness and compassion on behalf of all NPD diagnosed patients and their families.
All members of our Board Of Directors and our esteemed Scientific Advisory Board contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our 2013 Board of Directors.
Becky McGuire
Director-At-Large, NNPDF Board of Directors
Cousin of Kelly Thompson (NPC)
Robin Montvilo
Director-at-Large, NNPDF Board of Directors
Friend of Graham Kehoe ~ age 10
NPC ~ Sept 23, 1992 - March 16, 2003
Darrile Papier
Director-at-Large, NNPDF Board of Directors
Mother of Dillon Papier ~ age 11
Nicole (Yanjanin) Farhat
Director-at-Large, NNPDF Board of Directors
In Honor of All Niemann-Pick Patients
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 24th, 2013~blg]
~Cyclodextrin Update~ 10/23/2013
NIH Update on NPC Cyclodextrin Trial
Dear Families and Friends,
The NNPDF Central Office received the below message from the NIH/TRND Team today which we are pleased to share with the NNPDF Community.
We are happy to share with the NPD community that the NIH/TRND Cyclodextrin in NPC1 trial has been restarted. Despite the Federal Government shutdown from October 1-16, our team was able to meet our projected re-start date in late September, and to date have coordinated three successful admissions on this protocol. We are grateful for the patience of the participating families, and for the dedication of the NIH Clinical Center staff, which allowed us to avoid any major interruptions in the admission schedule.
We have scheduled three additional patients to start before the end of 2013. The remaining open slots will continue to be scheduled on a rolling basis as we get closer to the start dates in early 2014. We will be re-contacting families who had been screened previously to make sure they are still eligible before we schedule the remaining slots. If any families with children ages 2-25 are interested in more information about the trial or would like a member of our team to screen their child to see if they are eligible, they can contact Nicole (Yanjanin) Farhat at (301) 594-1765 or email [email protected] .
To read the FULL letter, with eliigibility criteria for the trial: Click Here.
[Oct 23rd, 2013~blg]
~October 23rd, 2013~
Meet the NNPDF Board of Directors~Day 3~
Dear Families and Friends,
On the 23rd day of our October NPD Awareness month events, we are continuing to introduce our NNPDF Board of Directors and recognize their long journey of courage, kindness and compassion on behalf of all NPD diagnosed patients and their families.
All members of our Board Of Directors and our esteemed Scientific Advisory Board contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our 2013 Board of Directors.
Deanna Bougeault
Director-At-Large, NNPDF Board of Directors
Mother of Kaitlyn Bourgeault ~ age 2 1/2
NPA ~ July 1, 2009 - Mar 22, 2012
Rhonda Brown-Kehoe
Director-at-Large, NNPDF Board of Directors
Mother of Graham Kehoe ~ age 10
NPC ~ Sept 23, 1992 - March 16, 2003
Kathy Lane
Director-at-Large, NNPDF Board of Directors
In Honor of her Grandsons, both NPB
Lauren Grodin
Director-at-Large, NNPDF Board of Directors
Sister of Scott Marocco ~ age 13
NPC ~ Aug 28, 1986 - June 6, 2000
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 23rd, 2013~blg]
Jerry James Wilson
12/13/1989 ~ 10/18/2013
Jerry Wilson (NPC) and Family at the
2011 Family ConferenceDear Families and Friends,
It is with great sorrow that we must inform the Niemann-Pick Disease Community that Jerry Wilson lost his battle with NPD on Friday, October 18th at the age of 23.
Jerry enjoyed listening to music, fishing, playing video games, and riding his bike. He was a big fan of Pittsburgh Steelers football and the World Wrestling Federation. John Cena was his favorite professional wrestler. Jerry also loved playing with remote control cars, drawing, going bowling and playing bingo.
Many of us had the esteemed honor of meeting Jerry at the 2011 Family Conference. He especially enjoyed the baseball game and the fireworks display. Feel free to share your fond memories & condolances with the family at the below link.
For Jerry's services, Memorial or to send your condolances to the family you can visit: Here
His sister made two collages for Jerry. You can view those on her Facebook: Here
Our hearts go out to all of Jerry's family and anyone who he has touched in his time with us. May his family and friends find the strength they need to move on in the days, weeks and months ahead without Jerry in their arms. Please know that all the families and friends of the National Niemann-Pick Disease Foundation are with you all in our hearts and in grief.
[Oct 21st, 2013 ~ blg]
~October 22nd, 2013~
Meet the NNPDF Board of Directors
~Day 2~
On our 22nd day of our October NPD Awareness Month events, we are continuing to introduce our NNPDF Board of Directors and recognize their long journey of courage, kindness and compassion on behalf of all NPD diagnosed patients and their families.
All members of our Board of Directors and our esteemed Scientific Advisory Board contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our 2013 Board of Directors .
Jill Flinton
Treasurer, NNPDF Board of Directors
Finance Committee Chair
Mother of Daniel Flinton ~ age 4
NPC ~ Dec 7, 2006 - Nov 11, 2011
Sandra Cowie
Chair, Research Committee
Adult with NPB
Ryan Kelly
Vice-Chair, Development Committee
Cousin of Erin Roberts ~ age 24
NPC ~ April 5, 1980 - Dec 1, 2004
Brenda Teller
Chair, Nominations Committee
Mother of "Little Roy" Teller ~ age 13
NPC ~ Feb 26, 1990 - Dec 20, 2003
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 22, 2013 ~ blg]
~October 21st, 2013~
Meet the NNPDF Board of Directors!
On the 21st day of our October NPD Awareness month events, we are shining our spot light on the National Niemann-Pick Disease Foundation's Board of Directors and their long journey of courage, kindness and compassion on behalf of all NPD diagnosed patients and their families.
All members of our Board Of Directors and our esteemed Scientific Advisory Board contribute their time and expertise to the foundation without compensation. This week, we will be highlighting members of our 2013 Board of Directors.
Karen Quandt, RN, MSN
Co-Chair, Executive Committee
Vice Chair, Research Committee
Mother of Ty (NPC) ~ age 17
Tammy Vaughan
Secretary, NNPDF Board of Directors & NNPDF Rep in Canada
Mother of Alex and Laura ~ ages 4 & 6
NPC ~ April 18, 1988 - Dec 23, 1992 & Jan 16, 1995 - Nov 08, 2001
Leslie Hughes
Co-Chair, Executive Committee
Great-Aunt of Riley Corbitt ~ age 6
NPC ~ July 27, 2002 - Oct 29, 2008
Lisa Chavez
Vice-Chair, NNPDF Board of Directors
Development Committee Chair
Mother of Breann ~ age 3
NPC ~ Feb 10, 2003 - June 8, 2006
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 21st, 2013~blg]
~October 20th, 2013~
Sample Press Release & History of the National Niemann-Pick Disease Foundation
On the 20th day of our October NPD Awareness month events, we are providing a sample of a editable Press release that can be used for fundraisers. We're also taking a look back at the history of the NNPDF.
~Getting Media Coverage: Fundraiser Press Release~
Getting media attention for a Fundraiser can seem intimidating, but the NNPDF put together a sample letter that will help make it easier!
This Word editable document provides the template you'll need, along with giving you sections you fill to make this letter unique to you, your family and your fundraiser.
Once complete, send it to your local paper. Newsletters love to receive completed press releases and photos, because you've already done the work for them!
Click Here to download the editable Press Release in Word
Click Here to visit the Media Coverage Page
Don't have Microsoft Word? Try this free program that is compatible to open and edit Word documents .
~20 Years of the National Niemann-Pick Disease Foundation History~
On February 10, 1992, six families with children suffering from Niemann-Pick Disease met at the National Institutes of Health at Bethesda, Maryland. Concerned with cutbacks in funds for medical research and knowing without research there was little hope for their children, they decided to form a foundation - The Niemann-Pick Type C Foundation, Inc. Bylaws were drafted and a board of directors was selected.
Now, 20 years later, we look back on the Foundation's history and how the Perseverance of our staff, Board Members, Researchers and YOU, our families, have kept us going strong.
Click here to view the History of the National Niemann-Pick Disease Foundation
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 20th, 2013~nmh]
~October 19th, 2013~
October NPD Awareness Highlight ~ Fundraising Support
Dear Families and Friends,
On the 19th day of our October NPD Awareness month events, we are taking a look at two different ways the NNPDF helps supportNPD family fundraising and awareness campaign events! If you've never done a fundraiser, or just want more ideas, then read below!
Custom Niemann-Pick Disease PersevereWEAR!
Heinze Family ~ Ovid-Elsie Junior High Varsity Football Cheer Team
*Example of an event with third party custom PersevereWEAR
We touched NNPDF Central Office fundraising support and assistance this last week, but now we're pulling out all the stops with a full roll out of "Recipes for Success"! Setting a goal to ensure that your event will stand out? Perhaps you just want to raise NPD awareness while out and about? Why not order custom PersevereWear?
Frank, from Screen Designs, is offering our NPD families the chance to create high quality custom t-shirts at low prices! He will work with you to make sure your t-shirt, sweatshirt, caps, etc. are your own from conception to the final printing process.
Just as with our standard PersevereWEAR, proceeds of these custom shirts and benefit the NNPDF programs directly!
Click here to order your custom PersevereWEAR!*Please note that the Heinze's shirts (picured above) did not come from Screen Designs, but are used only as an example of how custom PersevereWEAR can be used.
~Recipes for Success ~ Fundraising Recipe Cards~
So, you've been eager to host an NNPDF fundraiser of your own, but you don't know where to begin?
The National Niemann-Pick Disease Foundation Development Committee created these "Recipe for Success" cards to assist you in planning a fundraiser that will be both fun and easy!
These cards were developed with assistance from NPD families who have not only hosted these successful fundraising events, but also have valuable experience in implementing the ideas presented on these Recipes for Success! Best yeT ~ they are willing to chat with you to share their ideas and offer their support.
Each card includes:
- A fundraising idea/example
- The items needed for planning the event, or in this case, "ingredients"
- A detailed description on how to make all your "ingredients" combine to create a successful fundraiser
- Contact information in case you need additional help or have questions for NPD families who have successfully held these fundraisers in the past!
Thus far, during October 2013, we have had a number of these "NEW" Recipe events take place!
- Garage Sale : Teller Family
- Run/Walk Event: Coppola Family
- Dance Party: Quandt Family
- Golf Tournament: Papier Family
*You can visit the NNPDF Upcoming Events page to learn more above events listed above .
~Click Here for a full listing of Recipe for Success Cards!~
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
Looking forward to touching base with you again tomorrow!
[Oct 19th, 2013~nmh]
~October 18th, 2013~
Dr. Vite's Research & Ty Quandt's Fundraiser
On the 16th day of our October NPD Awareness month event, we are spotlighting Dr. Vite's PowerPoint Presentation from the 2013 Family Conference, as well as Ty Quandt's Grease themed school dance.
Dr. Vite's Fellowship of the Cats
Charles Vite, D.V.M, Ph.D.During the 2013 NNPDF Support and Medical Conference, Dr. Vite gave a presentation on the work he's being doing with naturally-occuring Niemann-Pick in cats. The below links includes not only his research report, but videos as well.
- Click here to download the presentation with videos (PowerPoint required)
- Click Here to view the presentation without videos (PDF)
- View Dr. Vite's Biography (PDF)
Fundraiser Spotlight ~ Grease Themed Dance in Honor of Ty Quandt
Ty Quandt ~ NPC (center) & friends at the danceIn celebration of Ty Quandt's 17th birthday, Mt. View Elementary proudly presents it'a annual Family Dance! This year's theme - Grease!
The event is happening tonight from 6:30-8:30pm, so break out your poodle skirt, leather jacket and prepare to do the hand jive!
Proceeds to benefit Ty Quandt and the National Niemann-Pick Disease Foundation. Persevere is the word!
Click HERE for the full flyer.
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 18th, 2013~blg]
~October 17th, 2013~
October NPD Awareness Highlight ~ Niemann-Pick Disease Adult On-set
Dear Families and Friends,
On the 17th day of our October NPD Awareness month events, we are turning the spotlight towards three individuals with Adult On-set NPD and on further educational resources in regards to this disease.
For more information on Adult-Onset NPC, refer to the below links:
- Niemann-Pick Disease Type C in Adults by J. Imrie & J.E. Wraith
- Adult-Onset Niemann-Pick Type C Disease: A Clinical, Neuroimaging, and Molecular Genetic Study
- The Adult Form of Niemann-Pick Disease Type C by Marie Vanier (NNPDF Scientific Advisory Board Member)
Brad & Bart Mackie ~ Adult NPC
Brad (Adult-NPC) & Bart (Adult-NPC) Mackie with their cousin, Dana Wilson in the centerWe were recently contacted by Lynn Lambright who wanted to share with the community this video of her son, Brad, with his loyal companion Dusty.
Both Brad (age 53) & his brother Bart (age 51) have adult on-set NPC. Their mother, Lynne, commented on how they are both courageously dealing with the loss of most of their abilities, yet they have a daily drive to stay connected with family and friends.
Adult onset NPC is still a new and undiscovered area for, not only the families who have a loved one diagnosed with NPC, but also for the various patient advocacy groups who offer support. This is an area that the NNPDF is working towards offering more services and support to our families and adults with late-onset NPC.
Letters for Chad Mayo
Chad Mayo (Adult-NPC)I know that many of you have had the opportunity to “meet” and work with Margaret Mayo over the years on behalf of her son, Chad. She was a strong supporter of the NNPD foundation's list-serv. She not only looked to the list-serv and the NPD family community for support, but also offered support to so many families, “time-and-time” again, as to her experiences and journey with her beloved son, Chad. Margaret has contacted the central office to advise that Chad has had a difficult couple of months fighting off a MRSA infection followed by aspiration pneumonia.
He was first diagnosed with NPC at NIH in 1998 when he was 23 years old. It has been a long 16 years for all involved and Chad has given an heroic fight, but is now quite ill and has gone home with “comfort care” through hospice. His family has asked that the NPD family community do one last act of kindness on behalf of Chad. Please see their message below:
*October 10th, 2013* Family Request for Chad Mayo, NPC, age 39 years. Parents: Margaret and William of Pennsylvania ~ members of the NNPDF.
Dear friends and family.
My brother Chad Mayo is in the final stage of his fight with with Niemann- Pick Type C. I am asking that all those that have had the pleasure of knowing Chad lift him up in prayer. I would like to have Chad's final days filled with love and kind words letting him know that his life had such great meaning. If you would be so kind to take a minute and send a card or write a letter letting him know how his smile made you feel, we will be sharing all the notes, cards and letters with him as them come in.
Please Mail to:
1175 Muhlenberg Ave
Swarthmore, Pa 19081Thank you in advance! The Mayo Family
Click this link to read Chad's Story
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 17th, 2013~blg]
~October 16th, 2013~
Genzyme Activities for NPD Awareness & NORD's Letter to Congress
Dear Families and Friends,
On the 16th day of our October NPD Awareness month event, we are spotlighting two NPD Awareness presentations being held today at Genzyme, a Sanofi Company, as well as a letter the National Organization of Rare Diseases (NORD) sent to Congress with reference to the United States Government shut down.
The Genzyme "Team" gathered at the Cambridge headquarters for a
group photo in support of October 2012 as NPD Awareness Month.Today, Genzyme, a Sanofi Company, is hosting two presentations at their facilities in Framingham, MA, their manufacturing plant, and at their downtown Camebridge, MA office headquarters in support of October 2013 as Niemann-Pick Disease Awareness Month.
Making use of NNPDF provided informational brochures on NPD Types A & B (ASMD), newsletters, wristbands and posters, the presentations will include video testimonial from individual patients, as well as, updates on the progress of the ongoing Enzyme Replacement Therapy (ERT) clinical trials that are currently taking place with NPD Type B patients at Mt. Sinai in New York City and in the United Kingdom. In addition, research information and updates on the continued efforts toward additional potential therapies for Niemann-Pick Disease Types A and B, also know as, acid sphingomyelinase deficiency (ASMD) will be offered to the Genzyme employees and attendees.
The entire NNPDF family community wishes to offer a sincere note of thanks for the contiued efforts and commitment of the Genzyme "Team" who, not only continue to PERSEVERE toward their goals for a therapy with ASMD, but have become true partners towards this effort with all of the NPD community world-wide. It is appreciated more than you know.
NORD Letter to Congress
More than 100 patient organizations, including the NNPDF, along with key medical experts joined in signing a letter drafted by the National Organization of Rare Diseases (NORD) in urging Congress to end the US Government shutdown. Delays in vital medical research and development of therapies harm children and adults with rare diseases, according to National Organization for Rare Disorders.
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
Check back again tomorrow for more updates and new ideas on how you can continue to be involved in raising Awareness this October for Niemann-Pick Disease!
[Oct 16th, 2013~blg]
~October 15th, 2013~
October Awareness e-Newsletter
Dear families and friends,
On the 15th day of our October NPD Awareness month event, we are rolling out our newest e-Newsletter, which focuses on all the ways families and friends can participate in October Awareness Month!
![[image]](/images/4117215htmlfile_1.png)
This newly redesigned e-Newsletter highlights not only NNPDF Awareness items, both classic and new, but provides simple examples of how YOU can participate and make this year's October Awareness Month our most fun and most successful ever!
~Click Here to view the October Awareness Month e-Newsletter~
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
Check back again tomorrow for more updates and new ideas on how to raise Awareness this October for Niemann-Pick Disease!
[Oct 15th, 2013~blg]
~October 14th, 2013~
Today's Spotlight: Dr. Ledesma's Research & ASMD (Type B) Practical Guide
On the 14th day of our October NPD Awareness month event, we are spotlighting Dr. Maria Dolores (Lola) Ledesma's research as well as introducing the Practical Guide to Acid Sphingomyelinase Deficiency (ASMD) Niemann-Pick disease Type B" .
Dr. Maria Dolores (Lola) Ledesma 2013 Family Conference Presentation
Dr. Maria Dolores (Lola) Ledesma
NNPDF Scientific Advisory Board Member
A current member of the NNPDF International Scientific Advisory Board, Maria Ledesma continues on with her stellar research in the area of NPD Type A & B (ASMD) patients.
Today we are highlighting her recent research updates presented at the 2013 Family Conference in Baltimore. Below is her presentation titled: How does Acid Sphingomyelinase Deficiency Impact the Brain?
Click here to view Dr. Ledesma's August 2013 presentation (PDF)
A Practical Guide to Acid Sphingomyelinase Deficiency - Niemann Pick-Disease Type B
The Niemann-Pick Disease Group (UK) in tandem with an educational grant from Genzyme, A Sanofi Company, developed this guide with the help of parents and caregivers of children, young people and adults affected by Acid Sphingomyelinase Deficiency (ASMD) NPD Type B.
A Practical Guide to Living with ASMD Niemann-Pick disease type B (NP-B) aims to provide practical information, reassurance and support to those living with ASMD NP-B. The NNPDF is thankful to the NPD Group UK for making this booklet available to our US and Canadian families.
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
Check back again tomorrow for more updates and new ideas on how to raise Awareness this October for Niemann-Pick Disease!
[Oct 14th, 2013~blg]
Amber Ashlee Jelsma
06/27/2011-10/10/2013
|
| Amber Ashlee Jelsma (NPA) with her father, Dylan Jelsma. |
Dear Families and Friends,
It is with deep heartbreak that we must inform the Niemann-Pick Disease Community of the loss of Amber Ashlee Jelsma, who lost her battle with Niemann-Pick Disease type A this morning, October 10th, 2013 at the tender age of 2 years.
Her parents, Laura Lopes and Dylan Jelsma, sent the following message to the central office to share with the NPD Community:
Dylan & I would just like to share with the foundation that our precious Amber lost her fight with NPA at 9.40am this morning 10th October. She was not in pain & passed peacefully after being so strong fighting her chest infection in hospital for the last 10 days. She took the time to open her eyes & look at Dylan & I for the last time before quietly slipping away in Dylan's arms with me holding her hand. She was surrounded with so much love. Her passing came 17 months after diagnosis & we farewell her knowing that we gave her the best life we possibly could. It was a highlight of our time with her that we got to attend conference in Nashville together & meet so many inspirational people. Her timing was impeccable coinciding with Niemann-Pick Awareness Week & International Baby Loss Awareness Week.
Another little butterfly girl has grown wings and flown away to play with her friends. RIP Amber Ashlee Jelsma - our precious baby girl - we will love you forever.
Amber Ashlee Jelsma: 27 June 2011 - 10 October 2013 - Forever in Our HeartsMany families may remember Amber and her parents from the Nashville, Tennessee Family Conference in 2012 as they traveled from their homeland of New Zealand to learn more about Niemann-Pick Disease. Amber stole all our hearts with her infectious smile (as you can see above) and was a constant cuddler.
Our hearts go out to the Jelsma family and anyone who Amber has touched in her short time with us. May her family and friends find the strength they need to move on in the days, weeks and months ahead without their precious Amber in their arms. Please know that all the families and friends of the National Niemann-Pick Disease Foundation are with you all in our hearts and in grief.
[Oct 10th, 2013 ~ blg]
~October 13th, 2013~
Today’s Spotlight: Neurology Now Article and NORD Letter
Dear Friends and Family,
On the 13th day of our October NPD Awareness Month event, we are focusing on a Niemann-Pick Disease related news article referencing NPD and October as NPD Awareness month in the October/November 2013 issues of Neurology Now.The National Niemann-Pick Disease Foundation was recognized for their efforts to have October declared NPD Awareness Month. The full article itself is a look at disease-related dementias in the Waiting Room titled: Scientists Set Dementia Research Goals. Neurology Now ( www.neurologynow.com ) also offered a The Waiting Room "BONUS" segment at which they interviewed Dr. Marc Patterson for detailed information on NPD.
Click Here to view the NeurologyNow article.
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected].
Looking forward to checking back with you all tomorrow.
~Nadine
[Oct 13th, 2013 ~ nmh]
~ October 12th, 2013 ~
Research Spotlight: New NNPDF Research Updates
Dear Friends and Family,
On the 12th day of our October NPD Awareness Month event, we shine the spotlight on the research news and research updates from the NNPDF & CC-NNPDF sponsored Post-Doc Fellowships.
The research funded by the NNPDF is made possible in great part due to the efforts of our member families and their extended support networks via local community-sponsored events, and to the support of the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF).
The NNPDF is truly grateful for this support!
Our most recently funded Fellows & Research Grants are:
- Dr. Charles Vite – University of Pennsylvania (Grant)
- Dr. Deepti Gadi – Weill College of Cornell University (Fellowship)
- Dr. Stephanie M. Cologna – National Institute of Health (Fellowship)
- Dr. Lluis Samaranch – University of California (Fellowship)
- Dr. Andrew Munkacsi - Victoria University, New Zealand (Fellowship)
-
Dr. Dorthea Maetzel - Whitehead Institute/Cambridge (Fellowship)
To view their current research, labs and biographies:
Click Here for Fellowship
Click Here for Research Grants
Check back tomorrow for more October NNPDF Updates!Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 12th, 2013 ~ nmh]
~October 11th, 2013~
Twitter and Fundraising Spotlight!
Dear Families and Friends,
As we continue our countdown in October as Niemann-Pick Disease Awareness month, day 11 offers us the opportunity to roll-out the use of a new social media opportunity for our NPD family community ~ TWITTER! In addition to the new NNPDF Twitter account, we are also want to remind our supporters of the existing social media options availalble to our families. Lastly, we wish to highlighting a keen fundraiser event taking place this weekend!
Announcing: NNPDF Twitter!
The NNPDF Central office works diligently to ensure that our family memership has access to the information and resources necessary to tackle the day-to-day challenges associated with caring for a loved one diagnosed with NPD. To this end, the NNPDF offers numerous and varied communication and social networking options. The newest is an NNPDF Twitter account for those who may not follow our Facebook ( Type B Group , Siblings Group) , Blog , or one of our Yahoo! Groups .
We'd also like to encourage our subscribers to start using the following hashtags to make sure all our NPD related posts are connected.
- #nnpdf
- #persevereforlife
-
#octnpdmonth
Drop by and subscribe to the NNPDFTwitter Account for updates as they become available!
~Fundraiser Spotlight~
The Andrew Coppola Foundation Presents:
Walk, Stroll, Roll & Family Picnic
Andrew & David Coppola (NPC)
It is with excitement that the Coppola Foundation looks forward to hosting their next family fun event. On Saturday October 12, 2013, the Coppola family invites you to participate in a Walk, Stroll, Roll and Family Picnic.
So, what is this event all about? The Coppola family have reserved the largest Pavilion at Core Creek Park, and will provide BBQ style food and drink, entertainment, and will take two group style walks along the walking trails.
In addition, Brian and Kim will have a question and answer session to provide information about Niemann Pick Disease, current treatments, and ongoing research efforts. Their two sons, Andrew and David have both been diagnosed with Niemann-Pick Disease Type C.Click HERE for the full flyer.
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has available to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 11th, 2013 ~ blg]
~October 10th, 2013~
Niemann-Pick Disease Awareness Products
Posters, Brochures, Newsletters & DecalsDear Families and Friends,
On the 10th day of our October NPD Awareness Month event, we are focusing on the informational Awareness products available.
Whether you are holding a fundraiser or want to provide information for the general public, friends or relatives, the National Niemann-Pick Disease Foundation has a varied supply of informational products to help you raise Awareness in your community!
These items are available to our NNPDF family membership at low donation costs and discounted shipping to encourage families to distribute these at their community Awareness campaigns and fundraising events. So, while brochures, flyers and newsletters are free of charge, we ask a $1.00 donation and discounted postage rate for wristbands and posters to help defray the cost of printing and shipping.
"Research is Our Only Hope" poster
"Apple" poster
"Chalkboard" poster
"DNA-Balls" posterNNPDF Informational Brochures
NNPDF Brochures:
Informational brochures about Niemann-Pick Disease for ASMD (Types A & B) and for Type C.
Order FormNNPDF Newsletter
(latest 2 issues)Winter 2011
Spring 2013
Order Form
Persevere Window Decals are produced by a good friend of the NNPDF - sales benefit the foundation.
Order Online
Periwinkle Blue rubber bracelet
Front = "PERSEVERE FOR LIFE"
Back = "www.nnpdf.org"
Youth and Adult Sizes Available
Order FormAdditional Awareness Items Opportunities
We will be highlighting this further in October, with additional details, but wanted to give a teaser now to get everyone excited!
Frank from Screen Designs, who is working with the NNPDF to provide PersevereWEAR at a discounted cost, is also offering to create custom shirts for fundraising events at that same discounted price! He will work with you to make sure your shirt is your own from conception to the final printing process.
Contact Frank at: 410-305-8283
Cost of custom and regular PersevereWEAR benefits the NNPDF directly.
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has availabile to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 10th, 2013 ~ blg]
~October 9th, 2013~
Spotlight on: NPD Siblings
My Life with Scott: How Niemann-Pick Changed My Life
Scott Marocco (NPC) & sibling, Lauren Grodin (NNPDF Board Member)
On the 9th day of our October NPD Awareness Month event, we are recognizing an important part of the NPD family unit ~ brothers and sisters!
Lauren Grodin (Psy.D.), a current member of the NNPDF Board of Directors, brings a unique perspective to the conversation around NPD Awareness month, as she is a loving NPD sibling as well. Her brother, Scott Marocco, lost his fight with NPC on June 6th, 2000 at the age of 13. Dr. Lauren Grodin is a licensed psychologist who specializes in working with children, adolescents, and their families.
She is experienced in providing comprehensive evaluations and treatment interventions to assist youth and their families coping with behavioral and emotional concerns, medical conditions, and learning and developmental disabilities.
In August 2013, at the 21st Annual Family Conference in Baltimore, MD, Lauren presented a breakout session to our NPD families in attendance detailing how growing up with Scott influenced her life. Please find links to her PowerPoint presentation, session notes and biography below.
~New Facebook Group~
Niemann-Pick Disease Siblings
The National Niemann-Pick Disease Foundation is pleased to announce the development and support of a new Niemann-Pick Facebook networking page for siblings of those who have or had a loved one diagnosed with Niemann-Pick Disease.
We created this group to encourage Niemann-Pick siblings who have gone through the journey of diagnosis, caring for and living through the loss of a beloved brother or sister to NPD. It is our hope that siblings of any age will join to share experiences for those who are currently living with a family member affected by NPD.
Niemann-Pick Disease Siblings Group on Facebook
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has availabile to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 9th, 2013 ~blg]
~October 8th, 2013~
Spotlight on: NPD Sibling Contest
Chase the Cure ~ October Awareness Contest
| Cameron Reedy & Chase (NPC~age 4) DiGiovanni |
|---|
On the 8th day of our October NPD Awareness Month event, we are recognizing a family who is hosting an event/contest to help raise Niemann-Pick awareness.
The Reedy/DiGiovanni family is holding a contest in honor of Chase DiGiovanni (NPC).
Here are the contest rules:
Submit a drawing, poem, presentation, report, letter, song, video or any other type of media that talks about Niemann Pick Disease
You must be the sibling, close friend, cousin or someone who is impacted directly by having an NPD family member.
Open to kids under 18 for the drawing but anyone can submit
By submitting your work you promise it is completely your original work and you release all of us (chasethecure.net and the nonprofit you chose to link to) from claims of copyright infringement. Your parents will be signing an email wavier.
Parents are allowed to help very small children with their projects.
All Submissions that want to be considered for the drawing must be sent in by 10/25/2013
Everyone who enters has an equal chance of being chosen via the live drawing at the end of the month. Three winners get a $100.00 Visa Gift card (USD) to be sent via USPS mail or e-mail.
For more information: Click Here
To view the detailed instructions: Click Here (PDF)
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has availabile to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[Oct 8th, 2013 ~ blg]
~October 7th, 2013~
Persevere for Life! ~ New Pandora-like Bead!
Dear Families & Friends,
On Day 7 of our October NPD Awareness Month event, we are highlighting a NEW Persevere for Life product for family and friends! A "Persevere for Life" Pandora-like bead. The bead is in the NNPDF Periwinkle color, includes the phrase, "Persevere for Life" with a heart and can fit: Pandora, Chamilia, Biagi, Troll and most European Bracelets.
The cost is: $30.00 per bead and can be ordered directly from NNPDF Director-at-Large, Becky McGuire. Simply complete the order form found here ~ and ~ send along to Becky.
All proceeds from this New Persevere for Life product with benefit the National Niemann-Pick Disease Foundation!
~ * ~ * ~ * ~ * ~
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has availabile to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
Get ready to head into week 2 of October Niemann-Pick Disease Awareness Month! More fun to come!
[Oct 7, 2013 nmh]
~October 6th, 2013~
Drug Development in Rare Diseases: The Regulatory Path to Approval
Dear Families & Friends,
On Day 6th of our October NPD Awareness Month event, we are highlighting Dr. Forbes "Denny" Porter's presentation on The Cyclodextrin Phase 1 Trial. Dr. Porter was one part of a series of mini-presentations referring to elements of the FDA presentation we highlighted on day 4 & 5.
Dr. Porter's August 2013 presentation and professional information is noted below:
~ * ~ * ~ * ~ * ~
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has availabile to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
Get ready to head into week 2 of October Niemann-Pick Disease Awareness Month! More fun to come!
[October 6th, 2013 nmh]
~October 5th, 2013~
Drug Development in Rare Diseases: The Regulatory Path to Approval
Dear Families & Friends,
On Day 5 of our October NPD Awareness Month event, we are highlighting Dr. John McKew's presentation on Therapeutics for Rare and Neglected Diseases (TRND). Dr. McKew was one part of a series of mini-presentations referring to elements of the FDA presentation we highlighted on day 4.
Dr. John Mckew's August 2013 presentation and professional information is noted below:
~*~
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. The NNPDF is here to help and support you in these events ~ see all that the NNPDF has availabile to assist you here. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[October 5th, 2013 nmh]
~October 4th, 2013~
Drug Development in Rare Diseases: The Regulatory Path to ApprovalDear Families & Friends,
On Day 4 of our October NPD Awareness Month event, we are highlighting the Food and Drug Administration's presentation during the 2013 NNPDF Family Support and Medical Conference, held in Baltimore, Maryland in early August.
Andrew Mulberg, M.D., representing the FDA, discusses the process to get approval for a rare disease clinical trial. This is especially of interest to the families of the NNPDF as we currently have TWO clinical trials taking place for Niemann-Pick Disease.
- Acid Sphingomyelinase Deficiancy (ASMD) ~ Enzyme Replacement Therapy
Sponsor: Genzyme, a Sanofi company, Mount Sinai School of Medicine
To learn more about this trial ~ follow this link.
2. NIH/TRND Hydroxypropyl-β-cyclodextrin (HP-β-CD) for NPC
Sponsor: National Institutes of Health
Dr. Andrew Mulberg's August 2013 presentation and professional information is noted below:
~ October NPD Awareness Month ---- Fundraiser Highlight~
Dillon Papier Golf Tournament
Dillon Papier (NPC) and Family This year's annual Dillon Papier Charity Golf Tournament is scheduled for Friday, October 4th, 2012. Registration will begin at 9:00 a.m., with a shotgun start at 10:30.
This is a 4-person scramble format tournament, with prizes for closest to the pin, longest drive, etc., plus raffles, gift bags, and other prize opportunities.
Visit Upcoming Events for more information. Intersted in hosting your OWN Golf Outing to benefit the NNPDF ~ check out the NNPDF's "Recipe for Success" Golf Tournament link here to access the tried and true methods for a successful Golf Tournament.
~NNPDF October Awareness Month~
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
See you tomorrow!
[October 4th, 2013 blg]
Dear NNPDF Families and Friends,
October Awareness Month is here, and with it comes more opportunities than ever before to help spread Awareness!
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
~October 3rd, 2013~
New NPD Awareness Wristbands
With the roll out of the Persevere for Life logo for October Awareness Month, we wanted to make sure this was included in our Awareness items, and so the wristband has been updated for 2013 with "Persevere for Life" written along the band. These wristbands are great for fundraisers and as gifts for friends and family alike. Adult and Youth sizes available!
Click Here to Order your Wristband
For more Awareness Items, visit the Awareness Items Page
[October 2nd, 2013 blg]
Dear NNPDF Families and Friends,
October Awareness Month is here, and with it comes more opportunities than ever before to help spread Awareness!
Every day in the month of October we will be sharing fundraising ideas and highlight special events to keep the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
Remember that any events you are hosting for October can be sent to the NNPDF Central Office to be shared with the NPD Community. Contact: [email protected] .
~October 2nd, 2013~
PersevereWEAR Returns!
We are excited to roll out the new PersevereWEAR online store! These were the clothing items sold at the 2013 Family Conference, now easily accessible via the link below.
Click Here to Order your PersevereWEAR!
For more Awareness Items, visit the Awareness Items Page
[October 2nd, 2013 blg]
Dear NNPDF Families and Friends,
It's here! October Awareness Month begins today and with it comes more opportunities than ever before to help spread Awareness!
Every day in the month of October we will sharing fundraising ideas and highlight special events to keep the momentum going. So keep an eye on this web site and the Facebook Awareness Event page for the latest updates.
~October 1st, 2013~
Proclaim October Awareness Month in YOUR State
To kick the month off, we are asking for our Niemann-Pick community to get in touch with their state representatives to get this month declared Niemann-Pick Disease Awareness month in your state!
It’s easy! Contact your representatives in the Senate and House of Representatives. Call the Governor’s Office or Mayor’s Office and ask who handles requests for proclamations and what information they need.
Change this sample letter to reflect your own family story, submit your request and follow-up with a call as to the status. If you know someone in local, state or federal government that can help you to move this along, take advantage of their contacts.
To find your community contacts check the links below or look in the Government section of the phone book.
- U.S. House of Representatives Contact Link
- U.S. Senate Contact Link
- State and Local Government Links
Once you are successful and receive a proclamation, be sure to make a BIG DEAL of it ~ notify the press, frame the proclamation and have a presentation at your event. Ask if a government representative can attend, and make sure to get photos to submit to the media.
Make sure to let the NNPDF central office know as well so we can share the news with the NPD Community!
[October 1st, 2013 blg]
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September 2013 e-Newsletter Available Now!
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Dear friends and famillies,The September 2013 newsletter is now available!
New highlights and updates on the work of the National Niemann-Pick Disease Foundation (NNPDF) can be found in our latest e-Newsletter ~ just follow the link below to "READ ALL ABOUT IT!"
Articles included in this issue:
- 2013 Baltimore Family Conference Recaps
- NPD Clinical Trial Updates
- Scientific Advisory Board Highlights
- October Awareness Month ~ 2013
- NNPDF Spring 2013 Newsletter
Please contact the NNPDF Central Office at: [email protected] if you have any questions! Share this with your family and friends.
[September 20th, 2013 blg]
NNPDF August 2nd, 2013 Presentations on Cyclodextrin in NPC Disease
Aug 2nd, 2013 Panel Discussion Participants (from left); Dr. Andrew Mulberg (FDA); Dr. Elizabeth McNeil (NeuroNEXT), Dr. Steven Silber (J&J), Dr. Caroline Hastings (CHORI), Dr. Patti Dickson (UCLA), Dr. Forbes “Denny” Porter (NIH), Dr. John McKew (NIH/TRND), Dr. Sara Goldkind (FDA), Dr. Dan Ory (NNPDF SAB), Dr. Marc Patterson (NNPDF SAB)
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On August 2nd, 2013 in Baltimore MD, the National Niemann-Pick Disease Foundation (NNPDF) hosted a morning session on the use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) as an experimental treatment of Niemann-Pick Type C (NPC) disease during its 21st Annual Family Support and Medical Conference . To view the entire audio sessions, PowerPoint presentation and panel discussions ~ follow this link to the NNPDF Web site page titled: NNPDF Aug 2nd, 2013 Presentation Cyclodextrin in NPC Disease. |
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For a full historical time-line, reports and Press Release Announcements on the cyclodextrin story, please refer to the National Niemann-Pick Disease Foundation Web Site "Cyclodextrin" page for more detailed information. ( /Cyclodextrin.html )
In addition, more detailed information about the 21st Annual Family Support and medical conference can be located at: /familyservices_03.html
With follow-up photos and conference recaps at: /FCRecaps.html
[Sept 11th, 2013 blg]
Sandra Cowie - NNPDF Research Committee Chair & Dr. Edward H. Schuchman - NNPDF Scientific Advisory Board Member |
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Dear NNPDF Friends and Families,
Edward H. Schuchman, PhD, an esteemed member of the NNPDF Scientific Advisory Board Member (SAB), along with Robert J. Desnick, MD, who also had previously served on the NNPDF SAB, both of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai recently received “Inventors of the Year” award from the New York Intellectual Property Law Association (IPLA) for their work on Niemann-Pick disease.
The award pays tribute to individuals who have made worthwhile contributions to society by applying inventiveness to progress in science.
Their discoveries led to a drug for the treatment of Niemann-Pick Disease Type B ~ an orphan disease where the patient's cognitive and motor skills are severely impacted and leads to multiple complications; Dr. Schuchman and Dr. Desnick also discovered the genetic mutation causing the disease, and how to screen for it. Niemann-Pick Types A and B are rare inherited lysosomal storage disorders that cause debilitating health complications and are often fatal, especially for children. There are currently no approved treatments for Niemann-Pick A or B.
The work of Dr. Schuchman and Dr. Desnick has also led to a potential treatment, an enzyme replacement therapy, which is currently being tested in a Phase 1b trial with Genzyme Corporation in patients with Niemann-Pick B. A Phase II trial is being planned.
The Board, patients and family members of the National Niemann-Pick Disease Foundation wish to wholeheartedly echo these notes of congratulations and acknowledgement to Dr. Schuchman & Dr. Desnick regarding the excellence of their work, in addition to their unending commitment and devotion to the patients and families affected by ASMD (NPD Type A & B). You are truly heroes in our eyes.
To view the full press release about the award Click Here .
We will Persevere in Our Quest for a Cure!
Nadine Hill
[August 30, 2013 blg]
Urbana Boy with Rare Disease Celebrates Birthday with Orioles First Pitch
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| Dillon Papier (NPC) and father, Mark Papier. |
Dear Families and Friends,
We recently learned that our buddy, Dillon Papier, (NPC ~ age 11 years) has an EXTRA special way in which to celebrate his birthday ~ he was able to throw the FIRST Pitch at a Major League Baseball game last Sunday, 8/25/13! Share in the excitement with Dillon and his family and learn more about the BIG day below!
Click here to view the Frederick News-Post article
Dillon's Mom and Dad, Darrile and Mark Papier, just recently assisted the NNPDF in hosting the 21st Annual NNPDF Family Support and Medical Conference held in Baltimore, Maryland ~ August 1st - 4th, 2013!
Thanks again to the entire Papier family and clan for ALL that they do on behalf of the NNPDF and our friends with Niemann-Pick Disease!
[August 30, 2013 blg]
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Cyclodextrin Update -
08/22/2013
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Dear NNPDF Friends and Families,
We are happy to share an update from Dr. Forbes “Denny” Porter, at the National Institutes of Health (NIH), that the Investigational New Drug (IND) hold by the Food and Drug Administration (FDA) has been lifted and the NIH team is working diligently to get the Internal Review Board (IRB) approval of the changes requested by the FDA.
Dr. Porter has indicated that they expect to have the NIH Cyclodextrin clinical trial going again in September of 2013. The NNPDF anticipates posting/sharing more of the specific clinical trial details with the full NPC community once the IRB approval is received.
In the interim, Dr. Porter and his team wish to share with the community that this important and integral step with the FDA had been resolved!
Congratulations to all who have worked so hard and diligently on getting this process moving forward on behalf of our NPC patients and community members.
[August 22, 2013 blg]
Three Medical Faculty Named Wolff Professors
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| Daniel C. Brennan, MD, Chyi-Song Hsieh, MD and Daniel S. Ory, MD. |
Dear Families and Friends,
Dr. Daniel Ory, our esteemed National Niemann-Pick Disease Foundation Scientific Advisory Board Chair person, was one of three doctors to be named Alan A. and Edith L. Wolff Professors in their respective fields at the Washington University in St. Louis
As specified in the article, " The individuals named Wolff Professors today exemplify the character and caliber of researcher physicians the late Edith Wolff envisioned with her bequest ".
A bequest by the late Edith L. Wolff to enable these and other professorships continues the legacy of support for medical research that characterized Edith L. Wolff’s life and that of her husband, the late Alan A. Wolff.
Click Here to view the full article on the Washington University in St. Louis web site.
Click Here for the PDF.
Below is a more detailed outline of Dr. Ory and his work on behalf of Niemann-Pick families.
Dr. Ory graduated from Harvard College and Harvard Medical School. After completion of his Internal Medicine residency at Brigham and Women’s Hospital in Boston and cardiology fellowship at Massachusetts General Hospital in Boston, he pursued postdoctoral training at the Whitehead Institute at MIT. Dr. Ory joined the faculty at Washington University in St. Louis in 1995.
Dr. Ory has been active in Niemann-Pick C (NPC) disease research for over 14 years. His early work in the NPC field was supported by the National Niemann-Pick Disease Foundation (NNPDF), and later by the Ara Parseghian Medical Research Foundation (APMRF). Dr. Ory’s research has focused on understanding the role of the NPC proteins in cholesterol metabolism, how genetic defects in Niemann-Pick C cause neurodegeneration, and on the development of disease biomarkers and new approaches to treatment. Dr. Ory currently leads SOAR-NPC, an international collaborative whose goal is to develop new therapies to NPC disease.
Dr. Ory has served on the Scientific Advisory Board for the NNPDF since 2002, and in 2007 was invited to serve as Chairman of the Scientific Advisory Board.
[August 8th, 2013 blg]
Update from Genzyme on Acid Sphingomyelinase Deficiancy (ASMD) Development Efforts
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Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is the enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM); it is being evaluated for the treatment of the non-neurological manifestations of ASMD.
To read the full update, please visit the Enzyme Replacement Therapy - Type B page.
[August 8th, 2013 blg]
Quinn Madeleine Linzer
05/16/2012 ~ 08/09/2013
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| Quinn Madeleine Linzer (NPA) & Mom, Eileen Linzer |
Dear Families and Friends,
Sadly, we were informed that Quinn Madeleine Linzer lost her fight with Niemann-Pick Disease on August 9th, 2013, at the age of 15 months.
Many will know her for the To Do List her parents put together for her, many of which were crossed off thanks to the help and support of her community and those who she has touched with her story. Those close to her will remember her for her shy smile, infectious squeaking giggle and her unwavering ability to be happy despite her illness.
For service and visitation information: Click Here
To express condolences and share memories: Visit the Linzer Family Blog
May the family and friends of Quinn find the strength they need to move on in the days, weeks and months ahead. Please know that all the families and friends of the National Niemann-Pick Disease Foundation are with you all in your hearts and in grief.
[August 12th, 2013 blg]
Mario Ismael Najera
09/13/2001 ~ 07/24/2013
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| Mario Ismael Najera (NPC) |
Dear Families and Friends,
It saddens me to have to inform the Community that Mario Ismael Najera lost his fight with Niemann-Pick Disease on July 24th, 2013, at the age of 11. He was surrounded by family and passed in the arms of his parents.
Mario's parents, Mario & Natalie, described him as the answer to their prayers. He enjoyed listening to music, watching movies, dancing and spending every waking moment with family and friends. He was loved by all who met him and will be greatly missed.
For service and visitation information: Click Here
To express condolences: Click Here
May the family and friends of Mario find the strength they need to move on in the days, weeks and months ahead. Please know that all the families and friends of the NNPDF are with you all in your hearts and in grief.
[August 1st, 2013 blg]
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21st Annual Family Support and Medical Conference - UPDATE
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Dear Friends and Family,
The 21st NNPDF Family Support and Medical Conference is being held at:
The Sheraton Inner Harbor Hotel
Address:
300 South Charles Street
Baltimore, Maryland 21201
Phone: 410-962-8300
Web site: http://www.starwoodhotels.com/sheraton/property/overview/index.html?propertyID=197
Please note that the following details about this meeting:
Start Date: Thursday, August 1st 2013
Registration: 6:00pm – 7:00pm; Chesapeake Gallery ~ Third Level
Welcome Reception: 7:00pm – 9:00pm; Chesapeake I & II ~ Third Level
Hotel Parking:
$20.00 ~ NNPDF Discount Rate per day (please collect a meeting validation ticket from NNPDF Information desk/table on the third level)
$27.00 ~ Sheraton Hotel Daily Rate
$33.00 ~ Valet Parking Cost
Please note:
The entrance for “Self-parking” at the Sheraton Inner Harbor is ~ Conway Street
The entrance to the Hotel is on the corner of ~ Charles Street and Conway Street
Driving Directions to the Sheraton Inner Harbor Hotel in Baltimore may be found at: https://www.starwoodmeeting.com/StarGroupsWeb/booking/reservation?id=1302214099&key=2A528#contentlocation
You may find more information about the NNPDF 21st Annual Family Support and Medical Conference at the NNPDF web site via this link:
http://nnpdf.org/familyservices_03.html#FamConfBaltimore
If you wish to book a room at the hotel , you may do so via this link: https://www.starwoodmeeting.com/StarGroupsWeb/booking/reservation?id=1302214099&key=2A528
If you have any additional questions about this meeting and/or the NNPDF Baltimore Family Conference ~ please feel free to contact our offices at 920-563-0930.
Hope to see you there!
[June 25th, 2013 blg]
Dana Jesse Marella
07/23/93 ~ 07/12/2013
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| Dana Jesse Marella (NPC) |
Dear Families and Friends,
Sadly, I must share word with you that beautiful teen, Dana Marella (NPC), lost her battle with Niemann-Pick Disease last night. Our hearts are breaking and our spirits are crushed as we grieve along with Dana's parents, Andrea and Phil, and her loving siblings during this time of loss.
Phil Marella noted: "We are so sad to say that our precious Dana passed away peacefully last evening. Of course we are devastated, but want everyone to know how much we appreciate all of the prayers and kindness."
To Dana's family ~ may you find the strength you need in the next few days to journey on without your beautiful precious Dana, from the support and kindness that all who had the privilege to know and love your spirited courageous Dana will shower upon you.
~Family Update~
Marella Family shared "We are so grateful to all those whose prayers and good wishes continue to bless Dana and give our family strength."
The wake will be held from 4:00PM-8:00PM on Monday, July 15th at the Leo P. Gallagher & Son Funeral Home, 31 Arch Street, Greenwich, CT.
A mass of Christian burial will be celebrated at 10:30AM on Tuesday, July 16, 2013 at St. Catherine of Siena Church, 4 Riverside Avenue, Riverside, CT.
It is the family's wish that, in lieu of flowers, a memorial donation be offered to the family's medical research foundation,
Dana's Angels Research Trust,
15 East Putnam Avenue, #117,
Greenwich, CT 06830
Or online at www.DanasAngels.org .
More information is available at Leo P. Gallagher & Son's web site .
May the family and friends of beautiful Dana find the strength they need to move on in the days, weeks and months ahead without their precious daughter, sister, and friend at their side…..but know that her love and enduring spirit will be with you always. Please know that all the families and friends of the NNPDF are with you all in your hearts and in grief.
Nadine
[July 15th, 2013 blg]
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June 2013 e-Newsletter Available Now!
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The June 2013 newsletter is now available! Highlights include:
- Updates and information about the 2013 Family Conference
- Fundraiser season has begun!
- 2013 Clinical trials recruiting patients
Click here to view it!
[June 14th, 2013 blg]
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NNPDF Fellowships News
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Dr. Nicholas Cianciola has provided us with his final update on his research project:
Activation of an alternative cholesterol homeostatic mechanism in NPC
Sponsored by Cathleen Carlin, Ph.D., School of Medicine, Case Western Reserve University; Cleveland, Ohio; USA
[June 3rd, 2013 blg]
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21st Annual Family Support and Medical Conference - UPDATE
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Dear Friends and Family,
The Family Support and Medical Conference page has now been updated with a digital copy of the 2013 Family Conference Registration packet, with a hard copy version to follow in the mail shortly.
We are also hosting the First Time Family Fundraising contest again this year. If you win, the NNPDF will cover the room cost for the three nights of the conference! So don't wait to make your hotel reservations if you are in the running to avoid disappointment.
For more information, visit the Family Conference page.
[May 21st, 2013 blg]
Letter from Greg Crawford - Dean of Notre Dame College of Science
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| Dean Greg Crawford during 2012 Road to Discovery ride |
Dear NPC friends and families,
Below is a letter from Greg Crawford, the Dean of the College of Science at Notre Dame, asking for your help. Greg is preparing for his annual cross-country bike ride. Funds raised from this event will go to the University of Notre Dame Michael, Marcia and Christa Parseghian fund for NPC research.
Dear NP-C family,
For the past three summers, I have dedicated one month to raising awareness and funds for NPC research through cross-country bike rides – Tucson, Ariz., to Notre Dame, Ind., in 2010; Boston, Mass., to Dallas, Tex., in 2011; Boston to Pebble Beach, Calif., in 2012. The rides have generated nearly 100 articles and media clips that highlight Notre Dame’s research in the fight against NPC and our strong partnership with the Ara Parseghian Medical Research Foundation. This summer, I will embark on another ride for the cause. I will be riding from Los Angeles, Calif., to Baltimore, Md., arriving in time for the National Niemann-Pick Disease Foundation 21st Annual Family Support and Medical Conference. This year’s 3,476 miles will bring my four-summer total to more than 11,000 miles. I will start from Los Angeles around July 1.
Each year, I write a daily blog about the ride. This year, I intend to dedicate a portion of my website to a “Parents’ Corner,” and I am requesting the honor of a contribution from you. Please send me a write-up on your child of up to 300 words – what they love, any stories you’d like to share, your child’s favorite activities (games, hobbies, interests, etc.) and your hopes. I would be happy to include a photograph of your child and/or family if you would like.
Thank you for considering my request. I am so honored to be riding across America again to raise funds and awareness for NPC. I have met so many wonderful children and families over the years, and it is a real honor to ride for you and your family.
If you wish to send material for the blog, please direct it to the Notre Dame staff – [email protected] , [email protected] , and [email protected] – no later than June 15. Please include your formal permission to post your statement and photographs publicly on my Notre Dame blog.
Thank you again, and I hope to see you in Baltimore!
Yours in Notre Dame,
Gregory P. Crawford
Dean, College of Science
University of Notre Dame
Notre Dame, IndianaThanks for your support.
Greg will be leaving from Los Angeles, CA on June 27th with the special surprise of arriving in Baltimore, MD in time to attend the 2013 Family Support and Medical Conference!
To follow his travels and show your support you can visit Greg's Blog .
[Updated June 25th, 2013 blg]
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As we celebrate this special day on Sunday, Niemann-Pick Disease families know that all Mother’s hold an extra special place in our hearts. Our thoughts and our hearts are with you all this Mother’s day.
[May 10th, 2013 blg]
Hundreds Turn Out for Walk/Run to Honor Girl, Fund Research
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| Kailey (NPC) and mom Krissy Florkiewicz |
Dear Families and Friends,
The Shererville Comminuty paper attended the Run/Walk for Kailey Floriewicz, held on Sunday, May 6th, and wrote an article detailing the amazing turn out this first time fundraiser raised within the community.
You can view the article by clicking here .
[May 8th, 2013 blg]
Update from Genzyme on Acid Sphingomyelinase Deficiancy (ASMD) Development Efforts |
Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is the enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM); it is being evaluated for the treatment of the non-neurological manifestations of ASMD.
To read the full update, please visit the Enzyme Replacement Therapy - Type B page.
We have also learned that Genzyme and Mount Sainai are recruiting new patients for phase1b of the Enzyme replacement therapy. For more information: Click Here
[May 7th, 2013 blg]
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Cyclodextrin Update
NPC Community Wide Conference Call
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Hello NPC Families and Friends, April 30th, 2013
The National Niemann-Pick Disease Foundation has been informed by Dr. Denny Porter, principal investigator of the NIH/TRND Cyclodextrin Clinical trial that the NIH team has decided to pause the Cyclodextrin clinical trial ~ currently being held at the NIH in Bethesda, Maryland, USA. The NNPDF will host a NPC community-wide conference call, with Dr. Denny Porter and Dr. Dan Ory as the key speakers, to discuss this and other updates pertaining to the trial.
The NPC community-wide conference call will be held on ~ Friday, May 3rd, 2013 at :
*8:30 am PDT; 10:30 am CDT; 11:30 am EDT; 12:30 pm in Argentina and Brazil; 6:30 pm Israel4:30 pm in UK; 5:30 pm in France, Germany, Holland, Italy, Poland, Spain, Switzerland.
The following items will be addressed during the call :
- Overview of the issues leading up to the decision to place the current trial into a pause status
- The plan to continue the NIH Phase 1 clinical trial to evaluate the safety of Cyclodextrin in NPC1
- The NIH/TRND Cyclodextrin Clinical Trial team will continue to send additional follow-up correspondence to the NPC community world-wide regarding the protocol and status of same
- Questions pertaining to the information presented during the call may be e-mailed directly to members of the NIH/TRND team and they will forward along to Drs. Ory and Porter for a response. [email protected]
- This teleconference will be limited in time and recorded. A written transcript of the call will be posted and made available to the NPC community.
- Questions during the call on Friday or resulting from the call can be emailed to: [email protected] and will be responded to either on the call, if there is time, or after the call by direct e-mail. In addition, we will create a “Q & A” document resulting from these inquiries which will also be posted and made available to the NPC community.
Click Here
to view call transcript
*Additional International Toll Free lines are being established and will be posted here prior to Friday’s call.
If you have any questions pertaining to this notification ~ please feel free to e-mail the NNPDF Central Offices at: [email protected] .
Thank you for your kind consideration to this matter.
Nadine M. Hill
NNPDF Executive Director
National Niemann-Pick Disease Foundation
www.nnpdf.org
E-mail: [email protected]
Phone: 920-563-0930
[Apr 30th, 2013 blg]
Riley Gene Robbins
09/15/2010 ~ 04/22/2013
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| Riley Gene Robbins (NPA) |
Dear Families and Friends,
Heartbreaking news has just reached the NNPDF Central office. Riley Robbins, precious baby boy of Chris and Lori Robbins, lost his battle with Niemann-Pick Disease, Type A on Monday, April 22nd, 2013.
It is difficult to put into words the deep sadness and heartbreak due to the loss of such a previous little one. Riley will be profoundly missed, not only by his family, but all those he touched in his short time with us.
An obituary where messages can be left for the family can be found, Here
Our thoughts and sympathies are with Riley's family during this time of heartbreak and loss. Please know that your NPD family and community grieves with you ~ and ~ will be keeping all who loved Riley in our hearts in the days, weeks and months ahead.
Nadine
[Apr 23, 2013 blg]
~In Memoriam~Professor James Edmond (Ed) Wraith |
Dear NPD Community,It is with great sadness that we acknowledge the passing of Professor James Edmond (Ed) Wraith on April 10, 2013 at his home in the United Kingdom.
An inspiration to many physicians and researchers, and a pioneer in the field of lysosomal diseases, Dr. Wraith was a beloved physician, researcher, and teacher. He served at Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital, Manchester, and the University of Manchester. The Director of Willink Biochemical Genetics Unit at Royal Manchester Children's Hospital, he was also lead clinician for the nationally-commissioned Lysosomal Storage Disease Service, and an international authority on mucopolysaccharidosis diseases. Dr. Wraith published over 200 peer-reviewed articles.Dr. Wraith was a leading clinician in the field of NPD and many other LSDs and was instrumental in the development of understanding, treatment and management of these diseases. Many of you will have worked with him over the years and will have known him as a caring and dedicated friend and professional.
His contributions, presence, and voice will be sorely missed in the fight against lysosomal diseases, and especially by his many colleagues and the patients for whom he cared.
[Apr 23, 2013 blg]
Orphazyme Announces Proposed Clinical Trial
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Dear NPD Community,Orphazyme, a Danish biotech company, announced its intention to conduct a trial of rhHSP70 as a therapeutic intervention in NPC disease, at a scientific conference in Italy this week (15th-19th April 2013).
Orphazyme has provided information for patients and families which will be generally available through patient organizations across the world. This information has been issued on the understanding that much has still to be confirmed / agreed by the regulatory authorities, so please be aware that some of the details may change. View the Orphazyme Slide Presentatio n .
To assist you, we have produced an additional document that summarizes the main points: View the: Orphazyme Trial Announcement Summary .
In order to facilitate communication further, Orphazyme intends to launch a web page for the trial and to include a “Frequently Asked Questions” section on the page. As soon as this information is available, we will share it with you. Further information about Orphazyme can be found on their website: http://www.orphazyme.com/
[Apr 19th, 2013 blg]
Gordon Research Conference 2013~ Apr 14th-19th, 2013 ~ |
Dear NPD Community,The Gordon conference on lysosomal diseases begins on Sunday, April 14th- 19th in Lucca, Italy.
Six members of the NNPDF scientific advisory board will be presenting research or in attendance. The amount of collaboration going on there is amazing!
For more information, Click Here
[Apr 12th, 2013 blg]
Lily Anna Beaupre
08/15/2009 ~ 03/31/2013
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| Lily Anna Beaupre (NPA) |
Dear Families and Friends,
With heavy hearts, we must inform you that Lily Anna Beaupre, cherished daughter of Yvon Beaupre and Eliza Lozzo of Ottawa, lost her battle with NPD on Sunday, March 31st, 2013.
The family passed along this message to the foundation to share:
Our beautiful daughter Lily lost her battle to NPD on Easter Sunday. She left us in her sleep, the best possible way, with no suffering.
For service & visitation information you may visit: Here
Lily was an inspiration to all and will be sadly missed by her many aunts, uncles, cousins and family friends. Memories of her happy smiles will remain in our hearts forever.
Our thoughts and sympathies are with Lily Anna's family during this time of heartbreak and loss. Please know that your NPD family and community grieves with you ~ and ~ will be keeping all who loved Lily Anna in our hearts in the days, weeks and months ahead.
Nadine
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| Lily and Dad, Yvan |
"There is no foot so small that it cannot leave an imprint on this world"
[Apr 8th , 2013 blg]
Taylor Marie Wauters
06/20/2001 ~ 03/25/2013
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| Taylor Marie Wauters (NPC) |
Dear Families and Friends,
It is, with a heavy heart, that we pass along word that Taylor Marie Wauters, NPC age 11 years, lost her battle against Niemann-Pick Disease on March 25, 2013.
Words just seem so inadequate in attempting to express the deep sense of loss and intense love family and friends had for Taylor, but the family wrote a beautiful rememberence of her that can be found here .
Our thoughts and sympathies are with little Taylor Marie's family during this time of heartbreak and loss. Please know that your NPD family and community grieves with you ~ and ~ will be keeping all who loved Taylor in our hearts in the days, weeks and months ahead.
Nadine
[Apr 3rd , 2013 blg]
Michael, Marcia and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research
~ Apr 4th, 2013 ~
Dear NPD Community,The annual Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann‐Pick Type C Research brings together researchers, supporters, families and children with NPC from around the world. Participants, representing 31 institutions and five foundations, include people from the United States, Canada, Brazil, Germany, the Netherlands, Switzerland, Australia and France.
This meeting includes the latest updates in research on Niemann-Pick type C from the experts that are conducting research.
For more information on dates, times and registration of all available conferences, Click Here .
[Apr 4th, 2013 blg]
Old Drug Offers New Hope Against Rare, Deadly Childhood Disease
~ Apr 4th, 2013 ~
Dear NPD Community,An article was recently released about Dr. Ory, our NNPDF scientific advisor, and the National Institue of Health's research into Cyclodextrin and the NPC clinical trial.
“We’ve been studying this disease for many years, and we began looking at this drug in earnest about
five years ago,” Ory says. “In animal models of NPC, we see significant benefit in both neurological
function and survival. It’s superior to all other compounds we have tested in the animal models.”
The nine patients they are enrolling in this Phase 1 trial are being treated at the NIH Clinical Center
in Bethesda, MD. In St. Louis, Ory and his colleagues are tracking their progress with new techniques
developed at Washington University.To view the full article, Click Here .
[Apr 4th, 2013 blg]
Update from Genzyme on Acid Sphingomyelinase Deficiancy (ASMD) Development Efforts |
Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is the enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM); it is being evaluated for the treatment of the non-neurological manifestations of ASMD.
To read the full update, please visit the Enzyme Replacement Therapy - Type B page.
[Mar 28th, 2013 blg]
Joseph "Chase" Jackson
07/04/00 ~ 03/05/13
Joseph "Chase" Jackson (NPC)
My Dearest NNPDF Families and Friends,
We have received word at the NNPDF that one of our brave and courageous NPC children has lost his fight against Niemann-Pick Disease.
Joseph “Chase” Jackson, age 12, (NPC 07/04/00-03/05/13) ~ (“Chase” as the members of the NNPDF fondly knew him) ~ is survived by his parents, Greg and Tanya Jackson, and his “Big Brother”, Chandler, all of Madison, Mississippi.
Visitation will be Friday from 6pm – 9pm at the 7th and Mueller Church of Christ. Funeral services will be Saturday at 2pm at the church with Larry McFadden officiating. You may send notes of sympathy to the family via the following link:
http://www.heathfuneralhome.com/fh/obituaries/obituary.cfm?o_id=1993787&fh_id=11497
Our loving support and hearts go out to the Jackson family as they move ahead in the next few days, weeks and months without their precious Chase at their sides.
With deep and heartfelt sympathies,
Nadine
[Mar 8th, 2013 blg]
Niemann-Pick Disease in the News for Rare Disease Day!
~ Mar 4th, 2013 ~
Dear NPD Community,On February 28th, in recognition of 2013 World Rare Disease day, two articles involving NPC families were highlighted, along with an article out of Dubai, to help spread awareness.
- Naomi Tyrell - Pink Cupcake Shack Holds Fundraiser for Rare Disease Day - Fairfield Patch
- Dillon Papier - Urbana Boy Participates in Drug Trial for Rare Disorder - Maryland Gazette
- Gulf News - Lack of UAE Data in Focus on Rare Disease Day.
[Mar 4th, Updated Mar 8th, 2013 blg]
Peter G. Pentchev Fellowships Open for Applications
~ Mar 1st, 2013 ~
Dear NPD Community,The National Niemann-Pick Disease Foundation (NNPDF) invites applications for postdoctoral research fellowships examining the biology of Niemann-Pick Type C (NPC) disease, a lethal neurodegenerative disease for which there are no effective therapies.
M.D., Ph. D. and D.V.M. postdoctoral fellows are eligible to apply for funding to improve our understanding of the biology and pathogenesis of NPC disease. Preference will be given to research projects developing new therapies for NPC and identifying biomarkers of disease activity for diagnosis and clinical trials.
Visit the Fellowships page for further information.
[Mar 1, 2013 blg]
Dear NPD Community,
In recognition of 2013 World Rare Disease Day, February 28th, the NNPDF would like to provide you with the latest updates to share with friends and family to help raise awareness into Niemann-Pick Diease. We will PERSEVERE in our Quest for a Cure!
To view Click Here
[Feb 28, 2013 blg]
Purdue Coach Promotes Niemann-Pick Disease Awareness in Charity Challenge
~ Feb 21st, 2013 ~
Dear NPD Community,Bravelets did an article on Matt Painter's involvement in the Coaches' Charity Challenge to bring awareness to Niemann-Pick disease.
You can view the article Here.
Don't forget to vote everyday through February 27th to help Matt get to the final four stage of the challenge!
[Feb 21, 2013 blg]
21st Annual Family Support and Medical Conference
Baltimore, MD
Harbor of Hope ~ Believing in Tomorrow~ Thursday, August 1st, 2013 - Sunday, August 4th, 2013~
Dear NPD Community,Join the family members of the National Niemann-Pick Disease Foundation (NNPDF) for the 21st Annual Family Support and Medical Conference to be held in ~ Baltimore, MD ~ Thursday, August 1st thru Sunday, August 4th, 2013! The family conference offers all in attendance an unmatched opportunity to learn about the latest scientific & research news and information directly from the TOP experts in the field of NPD research, medical care and clinical trials. In addition, our attendees have an opportunity to network with other families who share similar challenges as they journey on with loved ones diagnosed with Niemann-Pick Disease.
This year the NNPDF is pleased to also be hosting the third meeting of the International Niemann-Pick Disease Alliance (INPDA)! The foundation will welcome INPDA attendees from 16 countries around the WORLD who all have the same focus ~ that we WILL Persevere in our Quest for a CURE for Niemann-Pick Disease!
The conference will be held at the Sheraton “Inner Harbor” Hotel in Baltimore, Maryland, USA. You may find more information about the conference on our foundation web site at: /familyservices_03.html .
We will be updating the web pages with more information as it becomes available. We hope to see many of you at the “Harbor of Hope” in Baltimore, MD this summer.
[Feb 20, 2013 blg]
Loire Valley Research Conference 2012 Highlights
~ Feb 19th, 2013 ~
Dear NPD Community,The International Niemann-Pick Disease Alliance (INPDA) hosted the Loire Valley research conference in 2012.
The LVM is a unique international scientific meeting organized as part of the ongoing International Niemann-Pick Disease Association (INPDA) program of facilitating research into Niemann-Pick type C disease (NPC) .The meeting objectives were to bring together, in an open setting, a group of European scientists studying NPC or related diseases to:
- Facilitate free and open discussions on the current state of research into the disease and, advances in the associated cellular anatomy and biochemical physiology.
- Analyze research priorities and identify potential collaborations over the next 2 years.
To view the highlights from the conference, Click Here .
[Feb 19, 2013 blg]
NIH Announcement - Cyclodextrin Trial Update~ January 31st, 2013 ~ |
Dear NPD Community,The NNPDF central offices received the following update on the Cyclodextrin trial from the NIH Research Team.
"The NIH cyclodextrin trial has started and the first patient will receive the drug on Monday 2/4. We are very excited to get started and to get data that will direct future studies of cyclodextrin in NPC. We have been in contact with many families and would like to provide an update about the trial screening process.
The patients in this trial are grouped into "cohorts" of three patients each. Because we did not know exactly when we would be able to start the trial, the first three patients were selected because they live relatively close to the NIH or were able to come to the NIH with very little notice (less than 2 weeks in one case). Only the first 3 patients have been scheduled. We have not yet filled the remaining slots for the trial.
The FDA asked us to start at a lower dose than we initially proposed. The initial data from these first three patients will determine what exactly we will do next. We decided that we will need to re-screen patients when we are ready to schedule the next cohort (patients 4, 5 and 6), in order to make sure they are still eligible. This will also need to happen again with the last 3 patients. We have a screening log of all individuals who we have screened and will be in touch with families when we are prepared to schedule the remaining slots in the trial.
We would like to thank you for your continued patience and we apologize for any delays in returning phone calls or emails. We are doing our best to get this trial going as quickly and safely as possible so we can answer questions about cyclodextrin in NPC. Please do not hesitate to contact us with additional questions.
The NIH NPC Research Team"
[Jan 31, 2013 blg]
UPDATE: Cyclodextrin Trial Press Release!~ January 23rd, 2013 ~ |
Dear Families and Friends,The NNPDF central office received the following press release from the National Institute of Health (NIH) NPC Clinic from Dr. Forbes "Denny" Porter with an update on the Cyclodextrin Trial.
Click Here to see the press release.
To follow future trial updates, visit the Cyclodextrin page
[Jan 23, 2013 blg]
Purdue Mens Basketball Coach Matt Painter is representing Smith Family BReaK Thru Fund in the Infiniti Coaches' Charity Challenge this year. When Matt wins this challenge, the Smith Family BReaK Thru Fund will receive $100,000 from Infiniti. Coach Painter is competing against 47 other rival coaches and their charities.
This is where we need your help.
You can vote for Coach Painter by visiting ESPN.COM/INFINITI daily. Let’s help Matt fight Niemann-Pick Type C Disease.Please feel free to forward this information on as you see fit. Thank you for your past and continued support.
Remember, inspiration is contagious!
~ Trent, Julie, Chandlar, Braden, Riley, and Keaton Smith
[Jan 21st, 2013 blg]
UPDATE: FDA Approves NIH TRND Team for NPC Cyclodextrin Clinical Trial!~ January 11th, 2013 ~ |
Dear Families and Friends,
The NNPDF central office received the following update from the National Institute of Health (NIH) NPC Clinic from Dr. Forbes "Denny" Porter.
"We were informed today that the FDA has removed the clinical hold on the hydroxypropyl-β-cyclodextrin trial. We are planning to enroll the first patient in two weeks. This trial is a major step in trying to determine if this is a safe and biochemically effective drug for NPC. Our goal is to use data from this trial to optimize the design of a larger second trial focused on clinical efficacy. Thank you for your help and support!
The TRND Team"
[Jan 11th, 2013 blg]
Gregorio Martinez III
01/24/07 ~ 01/07/13
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| Gregorio Martinez III (NPA) |
Dear Families and Friends,
It is, with a heavy heart, that we must inform you that Gregorio Martinez lost his battle against Niemann-Pick Disease on Monday morning, January 7th, 2013. Precious little Gregorio was comforted with the love and support of his devoted family.
Condolences to the family may be sent via Gregorio's Uncle, Eric Martinez, at: [email protected]
For his Obituary and Service information: Click Here
Our thoughts and sympathies are with little Gregorio's family during this time of heartbreak and loss.
With sincere sympathies ~ Nadine
[Jan 7th , 2013 blg]
Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin~ January 4th, 2013 ~ |
Dear Families and Friends,
The NIH 2-hydroxypropyl-β-cyclodextrin trial has been put on hold by the FDA. The FDA had specific issues regarding the trial,
the majority of which we were able to resolve during a teleconference on December 10, 2012. However, there were questions concerning the compatibility of the drug and the Ommaya reservoir. Both Johnson and Johnson and Integra (the manufacturer of the Ommaya reservoir) provided significant assistance in helping to answer these questions.
The FDA was provided with our complete written response to their questions on December 13th and we provided an updated protocol on December 31st. We are currently waiting for the review of our response from the device division, and we believe that
we have adequately addressed their concerns. The FDA has 30 days (plus Federal holidays) from December 13th to provide a formal response. In order to allow for this, we have moved back our targeted start date by two weeks to the end of January 2013. This will allow us time to accommodate a positive response from the FDA and to reconcile any changes with what the NICHD IRB has approved.
We fully understand the disappointment that this message entails; however, we are committed to resolve any further questions
that the FDA may raise. Despite this delay, we are hopeful that we are very close to the start of the trial. We will plan to update the NPC1 community as more information becomes available.
The TRND Team
[Jan 4th, 2013 blg]
NewsLine postings from 2012, 2011, 2010 and 2009 NewsLine postings from 2008 and prior