Foundation Newsline Archive
Newsline Articles 2008 and Prior
**Family Notifications**
Jon D. Shearer
6/19/85 - 12/22/08
Sadly, we received word that Jonathan David (Jon D.) Shearer, twenty-three-year-old son of Richard and Janice Shearer of Clay, Arkansas, passed away from the effects of Niemann-Pick Disease Type C on December 22, 2008. Jon D. never met a stranger and he enjoyed playing with his "Bro" every chance he could.
Jon D. is survived by his parents, one brother and sister-in-law, paternal grandmother and maternal grandparents, and many extended relatives and friends.
Memorial donations may be made to the National Niemann-Pick Disease Foundation (nnpdf.org).
Our deepest sympathies are with the family in this difficult time.
[Dec 29, 2008 mem]
**In the News**
Naach for Niemann-Pick
Detroit, Michigan
The Naach for Niemann-Pick function, held in July of this year to raise funds and awareness for Niemann-Pick Disease, is featured in a new documentary film titled Our Indian Story.
Keith Famie, the Michigan chef who became nationally known as a contestant on the reality tv show "Survivor," has begun a second career as a successful documentary filmmaker. For the past couple of years, Famie has been working on a series of documentaries about metropolitan Detroit's ethnic communities, titled Our Italian Story, Our Arab-American Story, etc.
His most recent, Our Indian Story, includes footage from the successful Naach for Niemann-Pick event, which was a special gathering and dance honoring Aaditya Ravi Dasgupta (NPC). Attendees represented twenty-two of the twenty-eight states in India, and music from the various regions in India, as well as the music of Bollywood, was enjoyed.
Visit http://www.ourstoryof.com/india/production_28.html to read more about Naach for Niemann-Pick and to see pictures from the event, including many ornate, colorful saris worn by the women and girls.
The premier screening of Our Indian Story was held on December 14, at Rock Financial Showplace, Grand River, Novi, Michigan. The documentary was subsequently aired by WXYZ-TV, Detroit, on December 20.
[Dec 29, 2008 mem]
Stem
Cell Information from the
International
Society for Stem Cell Research
There has been much recent discussion among members of the NNPDF about
stem cell therapies for lysosomal storage disease. While this should
not be seen as an endorsement of this approach to disease management
at this time, it is important that we provide our members with unbiased
information about developing technologies. The following link provides
access to both basic and more in-depth information about this field
of investigation:
International Society for Stem Cell Research
[Dec 22, 2008 cwv]
Dr. Ory Named AAAS Fellow
Congratulations to Dr. Dan Ory, Chair of the NNPDF's Scientific Advisory Board (SAB), on his award of fellow of the American Academy for the Advancement of Science (AAAS)!
This year's fellows are announced in the Dec. 19 issue of the journal Science , published by AAAS. Fellows will be recognized in February 2009 at the AAAS Annual Meeting in Chicago.
An international non-profit organization, AAAS is dedicated to advancing science around the world by serving as an educator, leader, spokesperson and professional association. Founded in 1848, the association includes some 262 affiliated societies and academies of science serving 10 million individuals.
For the full story, visit: http://mednews.wustl.edu/news/page/normal/13165.html
[Dec. 22, 2008 mem]
European Medicines Agency (EMEA) Announcement Regarding Zavesca
On December 18, the Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion to recommend the variation to the terms of the marketing authorization for the medicinal product Zavesca.The CHMP adopted a new indication as follows: "treatment of progressive neurological manifestations in adult patients and paediatric patients with Niemann-Pick type C disease."
Based on the CHMP opinion, the European Commission is expected to make a final decision within two months.
Actelion is currently evaluating the possibility for submissions for miglustat (Zavesca®) in NPC in other countries outside the European Union.
Zavesca® (100 mg miglustat) is already indicated for the oral treatment of mild to moderate type 1 Gaucher disease. Zavesca® may only be used in the treatment of type 1 Gaucher patients for whom enzyme replacement therapy is unsuitable. See the official European Medicines Agency's announcement regarding Zavesca here:
http://www.emea.europa.eu/pdfs/human/opinion/Zavesca_33596508en.pdf
The Marketing Authorization Holder for this medicinal product is Actelion Registration Ltd.
[Dec. 22, 2008 mem]
**In the News**
"Hope for Aaditya"
Seven-year-old Aaditya Ravi Dasgupta was diagnosed in 2007 with Niemann-Pick Type C. In the year since, walking, talking, eating and even remembering how to say "Ma" or "Papa" have become very difficult.
Click the following link to read more about Aaditya's struggle against NPC and his family's quest for a cure. Hope for Aaditya
[Dec 10, 2008 mem]
**Niemann-Pick Disease Type C Family Survey Updates**
The final Lay Summary Progress Report from graduate nursing student at the University of Washington, and NPC Mom, Karen Quandt has been completed and the results are listed here. Please refer to Karen's initial survey document for more information
at: /familyservices_15.html
NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN
Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C
Final Progress Report – Lay Summary
Thank you to all the families that participated in my recent research survey. Thanks also go to the National Niemann-Pick Disease Foundation, The Niemann-Pick Disease Group of the United Kingdom and to the Ara Parseghian Medical Research Foundation, all of whom assisted with this survey. Today I closed the survey titled, “Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C”.
Here is a summary of the results:
57 families answered the survey
29 families had a family member with another neurodegenerative disease-
50.9%
28 families did not have a family member with another neurodegenerative
disease – 49.1%
Summary of other neurodegenerative diseases that the families have in
their health history:
17 cases of Alzheimer disease- in 14 different families
8 cases of Amyotrophic lateral sclerosis-(Lou Gehrig’s disease)
- In 6 different families
8 cases of Parkinson disease
4 cases of Multiple Sclerosis - in 3 different families
2 cases of Huntington Disease- in the same family
1 case of Multiple System Atrophy
Several families had 2 different neurodegenerative diseases in their
family health history.
I discussed the findings of my recent Niemann-Pick type C (NP-C)
family health history survey of neurodegenerative diseases with Dr. Ellen
Sidransky and Joie Davis, nurse practitioner, both of whom work at the
National Institutes of Health.
Dr. Sidransky and Joie are interested in investigating the possible association of Parkinson’s disease, ALS (Lou Gehrig Disease) and Alzheimer’s disease (diagnosed before the age of 65), present in the families who also have a relative with NP-C.
Thank you,
Karen Quandt, RN,MN
[Dec 4, 2008 nmh]
Annie OConnor-Smith -- Running Marathons with Niemann-Pick Disease
Annie OConnor-Smith was diagnosed with Niemann-Pick Disease Type B, but it hasn't stopped her from becoming an endurance athlete running marathons!
Please read Annie's message below, and check out the article in Annie's running club's newsletter. Click the link in Annie's message, below, and then scroll down to page 15 of the newsletter.
Annie writes:
"I wanted to share with you all an article that a friend of mine published in our local running club newsletter on page 15 at this link http://www.spacecoastrunners.org/abz896/2008_12.pdf . Please forgive my feeble attempt to explain NPD and my tendancy to be a very blunt communicator but I do seem to have an audience with the local running and triathlon community. I also wanted to let everyone know that I ran our local marathon, which is a Boston Marathon qualifying race, today with a time of 4:22:03 for the 26.2 miles which averaged to a 10 minute pace per mile.
I would need a time of 3:50:00 to qualify for my age group in the regular times which I missed by 8 minutes 2 years ago when I was at the peak of my running. Unfortunately, I have had a lot of hip pain and have been running slower ever since. I kept in mind during the race that Marcos was traveling to MSSM today for his baseline visit for the infusion study. Tonight I filled out the application for the April 20, 2009 Boston Marathon and checked the "mobility impaired" category and listed "type of disability" as the following: spinal injury & lysosomal storage disease - Niemann Pick Type B (AKA acid sphingomyelinase deficiency). Boston has only the following disabled categories: puch rim wheelchair, blind visually impaired, and mobility impaired which allows a qualification time of 6 hours or under if the person requires no special devices to move about but would otherwise not qualify at the regular times and a qualification time of 8 hours or under if the person needs a device such as crutches to move about. They require a letter from a doctor so I am sending in 1) a letter from an orthopedic doctor in 1996 declaring me as 7% disabled since I had limited mobility after compressing two vertebrae in my back from a fall from a mountain bike going down Pike's Peak (for a work outing planned by my boss... how silly an idea was that?) and 2) a summary letter from Dr. McGovern that was part of my records from the enzyme infusion study in 2007 stating that I have NPD, the size of my spleen and liver and also regarding interstitial lung disease ILD1.So I will let you all know if they let me in. If they do, I will try my best to get some publicity to generate fund-raising and awareness for NPD. I believe I need to do this as soon as possible as I don't know how many more full marathons I should do. It is fun but very abusive on my body.
Also in the middle of composing this email, I was reading prior emails and discovered an email about Katlyn's passing. She was so adorable and I am sure we were all hoping that she would outlast her doctor's predictions for life expectancy. It made me think how all of the obituaries we see on this group are for young people who left this world too early for us. I wanted to share with you all my aunt's obituary as she was 103 years old and only spent her last year in a nursing home (at her insistance) and her mind was sharp for her entire life. My whole family was proud of her for living so long and still being fiesty and loving and having a sense of humor. I don't know if she was a NPD carrier as she was not tested but it would have been interesting to know. I have tried unsuccessfully to convince my grandfather (my aunt's younger brother) to get tested since if he passes we will miss our chance to know what side of my dad's family NPD-B came from. Hugs from a very tired Annie :-) "Annie's almost-104-year-old aunt's obituary, published in Florida Today on 11/25/2008:
Imbler, Dorothy -- MERRITT ISLAND
- Dorothy Imbler, age 103, passed away peacefully in her sleep on Thursday, November 20, 2008 at the Riverfront Nursing Home in Bradenton. Dot was born January 25, 1905 in New Jersey and was a nurse who enjoyed gardening, animals, and world traveling - particularly to Israel. In her nineties, Dot lived in a Merritt Island apartment with the assistance of friends. Outliving her friends, Dot moved to Myakka City at age 98 and was lovingly cared for by her niece, Lois. Dot had a sharp wit and memory, love of family, and strong faith in God to the very end. She is survived by her brother, Louis Tilley of Cape Coral; nieces, Lois Horan (Albritton) and Anne OConnor-Smith of Malabar and numerous other nieces and nephews.[Dec 3. 2008]
**FAMILY NOTIFICATIONS**
Katlyn Rose
Sumbad
4/8/06 - 11/24/08
Sadly, we have received word that little Katlyn Sumbad, daughter of Jennifer and Genesis Sumbad, of Modesto, California, has passed away at the age of two-and-a-half years, from the effects of NPD Type AB.
Katlyn's grandma wrote to tell us:
"It is with great sadness and very heavy heart that I let you know our beautiful ray of sunshine, Katlyn Rose, passed away on Monday at 5:35pm. Mommy Daddy, Grandma and Grandpa were there holding her hands as she left this world to be in a better place. We know that Katlyn is now in heaven and hopefully enjoying being a 2 year old little girl that she was never able to be here. We will miss her so so much. But we are so thankful for the short time we had with her. None of us would trade that for anything!
We want to say Thank you to every one for their prayers. The next few weeks are going to be hard getting use to Katlyn not being here, but she will be forever in our hearts!
The service is going to be on Sat. Nov. 29th; we will let you all know the time in the next day or two.
Hugs,
Cindy Pruneau
(Baby Katlyn's loving Grandma)
[Nov 25, 2008]
**In the News**
NNPDF member Lisa Chavez was recently featured in The Daily Times of Farmington, New Mexico.
(http://www.daily-times.com/ci_10989989?source=most_emailed , or you can read the article down farther on this page.)
It is so wonderful to see Lisa receive this coverage for her home hobby business as her efforts and support of the NNPDF and our families has been so inspirational as well. Lisa, with the support of her husband Jami, has been sharing her creative spirit on behalf of her beautiful, precious daughter, Breann (NPC), for many years. Lisa lends her talents and time to the NNPDF in support of the foundation and our families in many different ways throughout every year.For our family conference, Lisa lovingly creates each of the memorial candles that we light over the duration of the conference in loving memory of each precious life we lost to NPD the previous year. As you enter the main conference rooms you are lifted up by the soft fragrance of comfort from her candles ~ it is as though soft wisps of love wrap around each attendee. The beautiful glow of the candlelight dancing around the room helps us all to remember the special impact that our NPD members have had on us and why we are gathered together ~ they are not forgotten.
Lisa also assists the foundation as we reach out to those families who have recently lost a loved one to NPD. She takes the time to create a candle specifically for each loved one on behalf of the NNPDF. These have offered a sense of comfort to our families at one of their deepest emotional trials.
In addition, Lisa and Jami have begun an annual fund raising event hosted in memory of Breann ~ "Ducks for Bucks"~ which assists the NNPDF in supporting our Equipment Exchange program, as well as other programs for families with a member diagnosed with NPD. /familyservices_09.html
Her creative energies don't stop there. Lisa took a poem written by her aunt summarizing the journey and struggle that she and Breann, as mother and daughter, took with NPD. "And This My Child" is a beautiful testament to the special love between a mother and child when faced with NPD. Check out the YouTube link at: http://www.youtube.com/watch?v=UW0pk77SSg4
The most inspiring aspect of this recap is that Lisa and Jami are not alone in their efforts and support of the NNPDF.......every day the foundation is approached by families who want to take that extra step to ensure that they are doing everything in their power to help their children and, in the case of the Chavez's, working to help other families now that their little ray of sunshine is gone.
Our thanks and gratitude to you all runs deep.
Nadine
Candle making hobby becomes healing
outlet and viable business for local woman
By Debra Mayeux
The Daily Times, Farmington, New Mexico
Article Launched: 11/14/2008 11:10:17 PM MST
The warm glow from the soft light of a candle can soothe the soul. Add delicate fragrance of spice, maybe chocolate or pine and the lighting of a candle can positively affect a person's mood. This is what Lisa Chavez discovered when she began making candles five years ago.
Chavez had given birth to her daughter, Breann, and was searching for a home-based business. She bought some wax at the grocery store, melted it on her kitchen stove and started pouring the wax into glass jars. She was making candles. "The more I made the more people became interested in them," Chavez said.There was something simple, yet attractive, about her Willow Wicks candles. She would mix colors and fragrance into the wax and then pour it into all types of glass jars.
"Some of the first jars I filled were Breann's baby food jars," she said. "I really was just playing around with it."
Chavez made a label with Breann's picture and the words "Pray for me," and gave them to family members, said Kay Baker,
Chavez's mother. This was while candle making was still a hobby, and Chavez worked early morning hours cleaning offices in town.
She liked candles, because she was from the Midwest. "It's a popular thing to have candles burning in your home," Bakersaid.
Chavez said that between changing diapers, feedings and naps she would experiment with her candles and other crafts. She wanted a way to make extra money and soon discovered a viable cottage industry. She opened Willow Wicks Candles and began marketing through friends and family.
"It was really nice that people started supporting my hobby," Chavez said.She did her first craft show at Farmington High School in 2004. "We made 50 candles and hoped we would sell one," Chavez said.
She sold every candle and plans to have upwards of 200 at the upcoming Farmington High School arts and crafts show from 9 a.m. to 2 p.m. Nov. 22 in the school cafeteria and gymnasium.
Chavez realized candle making could be more than a hobby. She envisioned a little country store attached to her home in Turley. She would make candles and Breann would have a craft and hobby corner with her own childlike creations.
That dream changed when Breann at the age of 18 months was diagnosed with a fatal illness, Niemann-Pick disease. Breann was given a grave outlook, she would not make it to 5 years old."Breann never was able to walk or say more than a few words, but she was the greatest inspiration and helper I could ask for. She loved to help me sort jars, load them in and out of baskets, and her favorite pastime of all, adorning her arms with the rings from the jar lids. She also would keep my shelves stocked during shows," Chavez said.
"We have pictures of Bree with the ring lids up her arms," Baker added.
After Breann died at the age of 3, Chavez looked to her candle making as a release and a way to honor her daughter's memory.
"She was the spark of Willow Wicks, and it is in her spirit the flame burns today," she said.
The business became a way of remembering happy times with Breann, Baker said. It also gave Chavez an outlet to share her daughter's story and that of other children with Niemann-Pick Disease.
Chavez uses candles to tell the story, but she also put her creativity for mixing fragrances and colors into developing an all-natural skin care line that she sells along with the candles. The skin care products are purchased by Chavez from another company, and then she mixes in her fragrances and colors to match the candles. "I get to do the fun part."In addition to skin care, Chavez began using different types of wax. One that is soy-based and can be used as a lotion as it melts is popular as a green product. She also makes pillars, votives, tea light and electric candles. "They are made from real wax for people that like the look of candles but can't burn them," she said.
Several stores in the Farmington area began carrying the candles as part of their regular product line. They are available Christmas at Nicoles, The Head Shop, Sway Salon, Nightscapes and Hazel's Flower Shop.
Chavez pours candles about three times per week to keep up with demand. "I think one of the secrets to my success is that candles are addictive. They burn up and you have to buy a new one. It's hard to go wrong if you focus on a quality product that people have to replace," she said.
For information log on to www.willowicks.com .[Nov 18, 2008]
**Family Notifications**
Kevin Matthew Eadie
12/24/93 - 11/12/08
We have received word of the passing of Kevin Matthew Eadie, the 14-year-old son of Brenda Eadie and Bob Eadie, both of Virginia. Kevin's mother, Brenda, wrote: "My Angel Kevin lost his heroic battle over NP-C and was taken from me, my family, and many friends yesterday, Nov. 12th, at 2:17 a.m.....Kevin fought a hard and courageous battle for a long time up until the end of his life. The only thing that comforts me right now is that he isn't suffering anymore." Kevin is also mourned by the Peninsula Pilots baseball team, where he served as their inspirational batboy for seven seasons. Baseball legend Hank Aaron wrote to Kevin in 2007: "You have been incredibly brave and inspirational to so many people! Baseball has been a big part of your life, as well as mine. You have hit so many home runs just by smiling and persevering and proving the power of your will. While that terrible disease has limited the things you can do with you body, it has not been able to break your spirit."
[Nov 13, 2008]
Law Passed to Address Support for Prenatal Diagnoses
Congress passed and the President signed into law the Prenatally and Postnatally Diagnosed Conditions Awareness Act, a bill "to amend the Public Health Service Act to increase the provision of scientifically sound information and support services to patients receiving a positive test diagnosis for Down syndrome or other prenatally and postnatally diagnosed conditions." The act focuses on increasing knowledge and resources, articulating the following purposes:- Increase patient referrals to providers of key support services for women who have received a positive diagnosis for Down syndrome, or other prenatally or postnatally diagnosed conditions, as well as to provide up-to-date information on the range of outcomes for individuals living with the diagnosed condition, including physical, developmental, educational, and psychosocial outcomes;
- strengthen existing networks of support through the Centers for Disease Control and Prevention, the Health Resources and Services Administration, and other patient and provider outreach programs; and
- ensure that patients receive up-to-date, evidence-based information about the accuracy of the test.
**Family Notifications**
Riley May Corbitt (NPC)
7/27/02 - 10/29/08
Riley May Corbitt (NPC), died on October 29, at the age of 6 years.
Her Aunt Leslie wrote: "It's with a heavy heart that I'm sending you this email. Our precious Riley is in Heaven now. She left this earthly world at 1:15pm CST. She was surrounded by her Mom, Dad and big sister, Haley. Her last 3 days have been very peaceful and she beautifully drifted away. Today was beautiful with clear blue sky and brilliant sunshine.
We will miss our Smiley Riley but we know she's in a place where she is now running, laughing, talking, eating and all those things our children should be able to do. Please pass this on to our families. Her services will be at 11am Saturday, Nov 1. Thanks to everyone for their kind thoughts and prayers."[Oct 30, 2008]
Jeffrey Dean Baker (NPC)
4/5/64 - 10/21/08
We received word from Enid Baker of New York of the death of her son, Jeffrey, at the age of 44. Jeffrey formerly worked for Ed Arnold Scrap Processors and the ARC of Batavia. He also served with the US Naval Seabees Reserves for 14 years and enjoyed gardening and planting trees. Jeffrey was interested in all types of railroad trains. Jeffrey is survived by his parents, Dean and Enid Baker, his sister, Sharon Hyback; three nieces, and several aunts, uncles and cousins. Jeffrey was preceded in death by his sister, Deborah Baker (NPC).
[Oct 30, 2008] Photo credit: Per Ola Wiberg http://www.flickr.com/photos/powi/864882854/
Kimberly Rodarte (NPC)
3/26/79 - 10/4/08
Kimberly Rodarte of Llano San Juan, New Mexico, passed away unexpectedly on October 4, at the age of 29. Kimberly is survived by her parents, Rudy and Nestora Rodarte, sisters Brenda Cordova and Vickey Valdez, and a brother, Steven Rodarte. Also, five nieces, two nephews, special uncle Michael Rodarte of Denver, special aunt Libby Rodarte, very close friends Robert and Linda Gallegos and Leo and Lucille Maestas, and many other relatives and friends.
[Oct. 21, 2008]
B.J. Lawrence (NPC)
1986 - 2008
B.J. Lawrence of London, Ontario, Canada passed away earlier this year from the effects of NPC at the age of 22 years. B.J. loved hockey and was the waterboy for the hockey team (and the football and rugby teams) at his school. Free Press Columnist Ian Gillespie, in a 2007 article about B.J. , wrote that, as NPC took its toll on B.J.'s health, "B.J. had to change what he did, and the way he did things. But he never complained and he never stopped trying and he never stopped showing up." One of B.J.'s teachers said that in many ways, B.J. was more of a teacher than a student. She said, "He was always positive, he was always happy, he was always there..." B.J. is survived by his mother, Debbie Lawrence, and his sister, Stephanie (NPC).
[Oct. 20, 2008]Fred Wayne Jones (NPC)
October 1948 - August 2005
We received word of the death of Fred "Freddy" Wayne Jones, whose nephew writes, "Freddy was a loving son to our devoted grandmother, Irene, who spent most of her adult life taking care of her children, three of four of which were affected by Niemann-Pick Type C."
Fred was preceeded in death by two sisters, Janice Vogt (1993, NPC), and Darla Keen (2002, NPC). Fred Jones is survived by his mother, Irene, his sister Sharon Keen, five nephews, two nieces, and "a world of loving people who helped take care of him to give him as much independence as possible for as long as possible."
[Oct. 17, 2008]"In the News"
Good Friday Morning NNPDF Families and Friends,
Key Word = PERSEVERE!
We have fabulous and exciting news to share with you on activities around the United States and in Canada for NPD Awareness Month activities. Check these out and share in the excitement!!
~ Edmonton, Alberta, Canada ~
Elsa Hudson has been busy working on behalf of her little boy, Damon, who passed away from NPD Type A on April 16th, 2008. Please take a moment to follow this link and watch the moving story about the Cardinal/Hudson family and the awareness that they have been able to raise in Canada for NPD and October as Awareness month! Congratulations Elsa! PERSEVERE…..
Here is the link for it...the story is called Niemann-Pick Disease and should be easy to find using this link. http://www.globaltv.com/globaltv/edmonton/features/healthmatters/index.html . If you don't see the story displayed in the column on the right, click the dropdown arrow near the top right of the window, and search "Niemann-Pick" (without the quotation marks).
~ Maryland ~
The Mark and Darrile Papier family were successful in petitioning the State of Maryland to proclaim
October as Niemann-Pick Disease Awareness month, in honor of their son, Dillon (NPC).
A huge certificate with the gold state seal embossed on the proclamation arrived at the NNPDF
Central Offices last week. It states:
~ Whereas, NPD is a devastating metabolic disease that affects children and adults; and
~ Whereas, NPD is a rare genetic illness that is difficult to diagnose; and
~ Whereas, NPD has no known cure or treatment, Promoting awareness of the disease will aid in finding a cure and improving diagnosis; and
~ Whereas, Maryland is proud to join in support of a national effort to increase public understanding and knowledge of Niemann-Pick Disease.
~ Now, therefore, I, Martin O’Malley, Governor of the State of Maryland, do hereby proclaim October 2008 as Niemann-Pick Disease Awareness Month in Maryland and do commend this celebration to all of our citizens.
~ Around and About ~
We have a number of families taking advantage of the “Family & Friends Campaign” mailing during the month of October as well:
Modesto, California; In honor of Katlyn Sumbad (NPA/B)
*Edmonton, Alberta, Canada; In memory of Damon Cardinal (NPA)
*Yuma, Arizona; In memory of Malayna Varela (NPA/B)
*Kings Mountain, North Carolina; In memory of Zoe Bachman (NPA)
*Jackson, Michigan; In honor of Mindy Fagan (NPC)
~Nationwide ~
Don’t forget about our new NPD Awareness Month Facebook page to see all of the NPD family posts and photos! It now has 655 members! How cool is that?
Check out this page link at: /OctoberAwarenessMonthEvents.htm to see more about how you can get involved in raising awareness of NPD during October 2008 ~ our 7th Annual Campaign!
Thanks to all of our families and supporters for their ongoing efforts and achievements! Way to go ~ job well done!
Enjoy the weekend ~ Nadine
[Oct. 17, 2008]
7th Annual NPD October Awareness Month
"Family Event Updates ~ Week Two----Recaps!!"
NPD October Awareness Month Page
NPD October Awareness Month Events ~ How Can I Get Involved?
Hello NNPDF Families and Friends,
FACEBOOK Updates ~ the Niemann Pick Disease Awareness Group
page now has 627 members.....don't be left out ~ follow the links mentioned
below!
This is a great way to raise awareness of Niemann-Pick Disease ~ ~
it will spread the word about Niemann-Pick Disease far faster than
any other form of technology that we have today. My daughter has over
300 "friends" connected
to her page, so once she joins my group she will send invitations to
all 300 of those people, who in turn will send it to their friends!!
I have to say that after only 10 minutes of creating the group 8 people
have joined and a few of them that I don't know!
If you are a part of the "Facebook" community you can help
expand this effort by joining the group and asking your list of friends
to do the same--and ask them to ask their friends, and so on and so on....
Here's how:
Go to your facebook page (
www.facebook.com
)
and find the box that says "list of groups", click on it and
type in Niemann- Pick Disease Awareness and join! You can send an invitation
to your friends the same way. It will be really cool to see how many
members we can get over the next few weeks as October is Niemann-Pick
Disease Awareness month!
(If you can't find the group, "friend request" me and I will
send you a personal invitation!)
If you don't have a Facebook page...it is really easy to set-up as well!
Just follow the instructions at
www.facebook.com
!
I am so excited to see how this will impact our small NPD Family Community!
Thanks for taking part!!
Lorna Tyrrell (Email:
[email protected]
)
PERSEVERANCE ~ Jennifer Block ~ the NNPDF's very own IRONWOMAN certainly showed strength and perseverance in her bid for support of the NNPDF during the Ironman race in Hawaii Sunday, October 12.....
Karen Quandt, Mom to Ty (NPC ~ age 12) posted this update on our very own Ironwoman, Jennifer Block!
Our Ironwoman, Jennifer, completed the Ironman race in Hawaii in 12
hours 45 minutes on Saturday evening! She has quite a story to tell.
She emailed me this morning and said she had crashed her bike at mile
74 and fell and scraped and bruised her hip and cut her leg and arm.
She said she thought about stopping the race at this point, but she remembered
Race4Ty and then she decided she was going to finish the race. She was
checked by doctors at the aid station (where she crashed) and they bandaged
her up and let her go. So she rode the remaining 40 miles on her bike
and ran the 26.2 miles, bandages and all, to the finish line! She truly
is made of Iron. Thanks Jennifer, for finishing the race for the NNPDF!
Karen Quandt
Ty's mom (NPC ~ age 12)
Follow this link to see Jennifer's stats in the Ironman and to view a video clip of her crossing the finish line!
She is the 3rd athlete crossing the finish line in this clip and you can clearly see the NPD Swoosh ~ our new logo ~ on her shirt!
www.ironman.com ~ Enter Jennifer's name and see her statistics and see the video of her crossing the finish line.....
Fly Jennifer Fly!
We have also listed some fun and easy ways that our families can create
and host an Awareness event in their community. Many can be done right
from your home Personal Computer...so check out these ideas and resources.
We are here to help and love to hear about your events.
QUICK LINKS:
**NPD Family Hosted October NPD Awareness Events**
/donorinfo_13.html
**NPD Families Taking Part in the October Family & Friends Mailing**
/OctoberAwarenessMonthEvents.htm
**NNPDF October as Niemann-Pick Disease Awareness Month**
/October20087thAnnualNNPDFAwarenessMonth.htm
Nadine Hill
NNPDF Director of Family Support Services
[October 13th, 2008]
7th Annual NPD October Awareness Month
"Family Event Updates ~ Week Two!!"
NPD October Awareness Month Page
NPD October Awareness Month Events ~ How Can I Get Involved?
Hello NNPDF Families and Friends,
Lorna Tyrrell, Mom to Naomi (NPC ~ age 6), and the inspiration behind
the foundation's PERSEVERE campaign, has developed her own Family/Community
Awareness event by setting up a FACEBOOK GROUP page for Niemann-Pick
Disease Awareness Month. She hopes to encourage all families to register
with Facebook,create your own "friends list"
and link EVERYONE to the Niemann-Pick DiseaseAwareness page. It's easy
~ AND ~ effective in helping to share your family's story! The NPD Awareness
Facebook Group page has links back to the NNPDF web site and the foundation
office contact information.
Please see Lorna's message below:
Dear Friends-- My teenage daughters recently got me onto the new sensation "Facebook".
Within 5 minutes of creating my
own "profile" I had people contacting me that I haven't heard
from in 22 years-- it's that fast and effective in connecting
people!!
This is a great way to raise awareness of Niemann-Pick Disease ~ it will
spread the word about Niemann-Pick Disease far faster than any other
form of technology that we have today. My daughter has over 300 "friends" connected
to her page, so once she joins my group she will send invitations to
all 300 of those people, who in turn will send it to their friends!!
I have to say that after only 10 minutes of creating the group 8 people
have joined and a few of them that I don't know!
If you are a part of the "Facebook" community you can help
expand this effort by joining the group and asking your list of friends
to do the same--and ask them to ask their friends, and so on and so on....
Here's how:
Go to your Facebook page (
www.facebook.com
)
and find the box that says "list of groups", click on it and
type in Niemann Pick Disease Awareness and join! You can send an invitation
to your friends the same way. It will be really cool to see how many
members we can get over the next few weeks as October is Niemann-Pick
Disease Awareness month!
(If you can't find the group, "friend request" me and I will
send you a personal invitation!)
If you don't have a Facebook page...it is really easy to set-up as well!
Just follow the instructions at
www.facebook.com
!
I am so excited to see how this will impact our small NPD Family Community!
Thanks for taking part!!
Lorna Tyrrell (Email: [email protected] )
Karen Quandt, Mom to Ty (NPC ~ age 12)
posted
this update on our very own Ironwoman, Jennifer Block!
Hi Everyone,
Jennifer Block, our Ironwoman, will be racing for the NNPDF on Saturday,
October 11th in Hawaii- Rhonda, here is your chance to be in Hawaii!
We just reached our fundraising goal today of $10,000! So Jennifer
will start her 11 hour odyssey knowing we met our goal! You can follow
Jennifer's progress in the race at Ironman.com. The race starts at
7:00 am Hawaii time, 10:00 am Pacific time and 1:00 pm Atlantic time.
On the homepage of Ironman.com you will see a link for Athlete Tracker
under the coverage tab of the event (Ford Ironman World Championship).
Type in "Jennifer Block" and you can follow her progress
throughout her 11 hour race! (Swim 2.4 miles, Bike 112 miles and Run
26.2 miles) Fly Jennifer Fly!
Jennifer is wearing the NPD rainbow swoosh on her racing shirt! She is
putting the swoosh to work!
Take care everyone!
Karen Quandt
From the NNPDF office ~ Wow ~ this is an
exciting weekend as we all get ready to cheer on Jennifer Block in Kona,
Hawaii as she takes part in the Ironman World Triathlon Championships!
Ty Quandt, NPC, has been her inspiration!
She will be sporting the "Niemann-Pick Swoosh" and running
on behalf of all our children and young adults with NPD!
Fly Jennifer Fly!
/donorinfo_13.html
While checking out the upcoming events don't overlook another race as
Adam Recke and family will host their "Cruise for Adam" Benefit
Car Cruise in Easton, PA on Sunday, from 12:00pm - 4:00pm.
We have also listed some fun and easy ways that our families can create
and host an Awareness event in their community. Many can be done right
from your home Personal Computer...so check out these ideas and resources.
We are here to help and love to hear about your events.
QUICK LINKS:
**NPD Family Hosted October NPD Awareness Events**
/donorinfo_13.html
**NPD Families Taking Part in the October Family & Friends Mailing**
/OctoberAwarenessMonthEvents.htm
**NNPDF October as Niemann-Pick Disease Awareness Month**
/October20087thAnnualNNPDFAwarenessMonth.htm
Nadine Hill
NNPDF Director of Family Support Services
[October 10th, 2008]
7th Annual NPD October Awareness Month
"Family Event Updates ~ Week One-----Recaps!!"
NPD October Awareness Month Page
NPD October Awareness Month Events ~ How Can I Get Involved?
Greetings to All!
The family of Adam Recke (NPC ~ age 9) had a busy weekend with a golf
outing held in Pennsylvania on Sunday to benefit NPD Research and the
NNPDF. Here is the link to the news coverage
which ran on the news last evening (10/05/08):
http://wfmz.com/view/?id=525180
The Recke family doesn't want the grass to grow too long under their
feet as they cruise onto their next event to be held this upcoming Sunday
in Easton, PA..Cruise for Adam! Co-sponsored by The Easton Area Corvette
Club along with the Farmersville Elementary School, a day filled with
fun activities and a Corvette car show is sure to a hit!
/documents/CorvettesforAdamFlyer2008_000.pdf
Many thanks to the Recke family and their team of friends and volunteers!
In California over the weekend, the Katlyn Sumbad family gathered with
their family and friends to host their 2nd Annual golf tournament to
benefit NPD Research and the NNPDF.
We have word that it was a great outing and all in attendance enjoyed
a day of fun, sunshine, great meals, as well as some super golf. A raffle,
silent auction, prize holes and numerous contests rounded out the day!
Sadly, little Katlyn (NPD AB ~ age 2 yrs) became ill and was unable to
attend as the "Guest of Honor". Further
updates from her family have indicated that she is quite ill with a
seriously high fever and has been admitted to the hospital to address
dehydration and ward off possible seizures. The family has requested
that we all keep Katlyn in our hearts and prayers.
In Naugatuck, CT, Judy DeSouza, was joined by family and friends at a
park overlooking a small lake for a family day picnic celebration in
memory of Bryanna (NPC) and in support of NPD October Awareness month.
Families brought dishes to pass, were able to purchase raffle tickets
for a chance to win one of 11 coveted baskets filled with a variety of
goodies. A "Tastefully Simple" items display was on hand at
the picnic site with a donation being made to the NNPDF on all placed
orders. Information about the NNPDF and the support provided
to families, as well as updates on research was made available to the
attendees! It was a fabulously fun and enriching day for all!
An update from Edgewood, Washington brings word of the continued efforts
of Jennifer Block and her quest to raise funds for the NNPDF on behalf
of Ty Quandt (NPC ~ age 12) via her participation in the upcoming Ironman
Triathlon. An article in the News Tribune of Tacoma, WA highlights Jennifer's
efforts as she prepares to head off to the Ironman World Championships
to be held in Kona, Hawaii on Saturday, October 11th!
Check out this link!
http://www.thenewstribune.com/soundlife/story/499952.html
There are many families taking part in the October Family and Friends
Mailing and there is still time to get involved if you wish to send this
letter out in your communities in support of October NPD Awareness month.
Please contact the NNPDF office. Don't forget about requesting local
proclamations and working with your local media!
Please check out these resources and follow-up with the NNPDF office.
We are here to help and love to hear about your events. Thanks again
~ Nadine
QUICK LINKS:
**NPD Family Hosted October NPD Awareness Events**
/donorinfo_13.html
**NPD Families Taking Part in the October Family & Friends Mailing**
/OctoberAwarenessMonthEvents.htm
**NNPDF October as Niemann-Pick Disease Awareness Month**
/October20087thAnnualNNPDFAwarenessMonth.htm
Nadine Hill
NNPDF Director of Family Support Services
[October 6th, 2008]
7th Annual NPD October Awareness Month
"Family Event Updates ~ Week One!"
NPD October Awareness Month Page
NPD October Awareness Month Events ~ How Can I Get Involved?
Good Friday Afternoon NNPDF Families and Friends,
Excitement abounds as families around the country work to develop community based awareness campaigns and fund raising events in celebration of October as National Niemann-Pick Disease Awareness Month!
Thought of the Week: Awareness is empowering!
Two Family and Friends Fund Raisers will be held this weekend in honor of NPD family members and in support of the NNPDF. Best wishes to the DeSouza and Sumbad families as they gather with family and friends in their communities.
In memory of Bryanna DeSouza (NPC)
Hosted by Mom: Judy DeSouza
Family & Friends Picnic
Saturday, October 4, 2008
11am ~ 6:30pm
Hop Brook Lake Park - West Shelter Pavilion Route
63 Naugatuck, CT
In honor of Katlyn Sumbad (NPD AB ~ age 2 years) Hosted by Mom and Dad: Jennifer and Genesis Sumbad 2nd Annual Golf Tournament to benefit the NNPDF Saturday, October 4, 2008 Creekside Golf Club Modesto, California 9:00am First Tee Time.
In honor of Adam Recke, family and friends will gather at the Southmoore Golf Club in Bath, PA on Sunday, October 5th. Registration begins at 12:00pm, with a 1:00pm Start time. This event is sponsored by PSEA Eastern Regin. Check out updates on this event and others sponsored by the Recke family at:
Also, we have had a positive response from many families who have jumped on board and want to take part in the Family & Friends October Awareness month mailing. Check out this link for a list of family participants!
/OctoberAwarenessMonthEvents.htm
Please know that ALL of the efforts hosted by our families is so very appreciated. We at the NNPDF Central office will be happy to assist you with your efforts ~ give us a call ~ or check out the web site October NPD Awareness month page for helpful guidelines, ideas and tips!
Please be certain to contact the NNPDF Central office if you need or require any assistance in developing your own local community event ~ we will be happy to help out in any way we can.
Thanks to all who have jumped abord thus far ~ it is most appreciated!
Nadine Hill
NNPDF Director of Family Support Services
[October 3rd, 2008]
7th Annual NPD October Awareness Month
NPD October Awareness Month Page
NPD October Awareness Month Events ~ How Can I Get Involved?
Hello NNPDF Families ~ Happy October 2008!
We have seen a flurry of activity with families choosing to host awareness
events and fund raising activities during this 7th annual celebration
of National Niemann-Pick Disease Awareness Month ~ many thanks to all
who are working to support the NNPDF with these efforts! It is appreciated.
Annually, October is also a time for many to consider taking part in
their local United Way, Combined Federal Campaign and Employee Directed
Payroll Deduction programs!
The NNPDF can be of help! As a 501(c)(3) non-profit, the NNPDF qualifies
for these programs and the central office staff will be happy to help
you in setting up these programs in your community.
We are already registered with the Combined Federal Campaign (#10121)
so that any employee working for the Federal Government, many State Governments,
and some large nationwide employers can
choose to have their tax-deductible donations processed via payroll deductions
simply by choosing the NNPDF/#10121.
October is also when many community United Way Campaigns host their annual
drives. If your employer encourages employee participation in the annual
United Way Campaigns ~ why not choose the NNPDF
for your directed dollars? Often it is as easy as posting a write-in
request of the: National Niemann-Pick Disease Foundation
~ Tax id #: 35-1844264 on the registration form.
If additional paperwork is required by your local United Way Campaign
Coordinators or your employee, please feel free to pass along the central
office contact information. Many large employers are now handling their
own annual payroll directed employee designated fund programs.
Please know that we will be more than happy to supply any UW campaign
or employer with the documentation they require to establish an account
for the NNPDF.
Be certain to share this information with your family and friends within
your own community. When a close friend, neighbor or family member asks
~ "How can I help?" ~ you could indicate that their support
of the NNPDF through the United Way, CFC, or employee directed deductions
in support of your family would be appreciated.
NPD October Awareness Month Events ~ How Can I Get Involved?
Please be certain to keep the NNPDF updated with your local community
awareness events! We love to learn just how creative our
families can be and will share this with others on the web site. Watch
for updates!
Have fun and make this project a family affair!
Nadine Hill
NNPDF Director of Family Support
Services
[October 3rd, 2008]
"In the News"
Brenda Eadie, mother of 14-year-old Kevin (NPC), reports that their local television station plans to do a story later in October on Kevin, NPC, and the upcoming 1st Annual Kevin Eadie Charity Golf Tournament. See Upcoming Fundraising Events for information about the tournament.
Also, Brenda reports that during the last game of the Peninsula Pilots baseball season, one of the team members was awarded the first "Kevin Eadie Spirit Award."
[October 3rd, 2008]
NORD Advocacy
Alert
National Organization
for Rare Disorders
Press Release from Senator Hillary Rodham Clinton and Congresswoman Tammy Baldwin (D-WI)
Medically Fragile Children's Acto d orphan product
Senator Hillary Rodham Clinton (D-NY) and Congresswoman Tammy Baldwin (D-WI) have introduced companion legislation allowing states to create an all-inclusive care program for Medicaid-eligible children with the most intensive health care needs.
The Medically Fragile Children's Act (S. 3631/H.R. 7130) would ensure quality care with consistent coordination for children whose severe functional deficits require daily monitoring of their medical conditions. In the current Medicaid environment and in the healthcare system more broadly, care can be disjointed and duplicative, resulting in unnecessary hospitalization and diminished health outcomes, ultimately driving up healthcare costs.
"Families caring for children with the most difficult and complicated medical conditions have more than enough to handle without the added strain of a fragmented healthcare system that doesn't meet their needs. This legislation will take important steps to ensure consistent and coordinated care for those children who need it most, improving their quality of life and reducing costs," Senator Clinton said.
"Access to these programs will help restore respect and dignity to the health care of our most vulnerable youth," said Congresswoman Baldwin. "As I have seen in Wisconsin, with a comprehensive program of care, coordinated by a team of dedicated professionals, these children with special needs can achieve and maintain good health," Baldwin said.
Based on the pioneering model of care developed by a partnership between Palmetto Health of South Carolina, the Medical University of South Carolina, and that state's Medicaid and Social Services programs, this bill will allow states to tailor programs to meet the needs of their most medically complex children. If enacted, this legislation would also support several innovative programs in New York and the successful medical partnership model pioneered by the Medical College of Wisconsin and the Children's Hospital of Wisconsin, which established the medical benefits of care coordination and family support for medically fragile children.
Jim Kaufman, Vice President for Public Policy for the National Association of Children's Hospitals (NACH), added his support by saying, "NACH has recognized the Medically Fragile Children's Program as an innovative partnership between the state of South Carolina and the Medical University of South Carolina Children's Hospital that provides coordinated, high quality and cost-effective health care to children with special health care needs. We commend the introduction of this legislation, which allows other states to implement similar programs incorporating family choice and access to program services up to age 25."
A study of the South Carolina program by the National Association of Children's Hospitals found significant per child savings for Medicaid over a less-coordinated delivery system and a reduction in emergency room visits by 50 percent for children served by the program. In addition, 55 percent of program enrollees exceeded clinical expectations.
In authoring this legislation, Senator Clinton and Congresswoman Baldwin were joined by Reps. Henry Brown (R-SC) and John Spratt (D-SC).
[October 3rd, 2008]
"In the News"
Elsa Hudson, mother of Damon Cardinal (NPA), has been contacted by the family's local area news media, Global News , about giving a live on-camera interview about Damon and Niemann-Pick Disease. The interview will be conducted on October 16th, the 6-month anniversary of Damon's death. Elsa writes, "I am....so anxious to get Damon's story out there and more awareness about Niemann-Pick Disease." We look forward to seeing a clip of the interview, Elsa.
The family's school also published the following article about Damon and Niemann-Pick Disease in its October newsletter:
October is Niemann-Pick Disease Awareness Month
In April, 2008, one of our St. Teresa families tragically lost their infant child and brother to Niemann-Pick Disease. We shared their sorrow and this month we share their story as told by Damon's mom.
This month is a very important month for the family of little Damon Cardinal. As of October 16th, Damon will have been gone for six months.
Damon was diagnosed when he was 6 months old as having Niemann-Pick Type B, a rare genetic disease with no cure. However, this form of the disease had given us hope that a cure could be found in time to save him. Type B is slower to progress and patients often live into their late teens or even adulthood. We were very optimistic. Damon filled our lives with such joy.
A few days before Damon's 1st birthday, December 26th, 2007, we noticed that something was very wrong. After three weeks in the hospital, doctors told us that Damon had been misdiagnosed and actually had Type A of the disease and was given just a few weeks to a few months left to live. We were heartbroken. We took Damon home from the hospital right away so he could be surrounded by the love and comfort of his parents, sister and brothers. For three long months, Damon suffered in extreme pain and discomfort.
On April 16th, 2008, at the tender age of just sixteen months old, Damon died in his mommy's arms, with his daddy holding his hand tight and his siblings close by his side.
There is no cure for Niemann-Pick Disease. We hope that by raising awareness about our son and this horrific disease that others will feel compelled to help us continue Damon's fight and find a cure so that no more little ones will have to suffer like he did.
Awareness and donations will benefit the National Niemann-Pick Disease Foundation in ways we could never imagine.
We are selling water bottles and bracelets to help raise funds for the foundation. There will be samples of these two items in the office and a sign-up sheet for all those interested in helping us as we persevere to find a cure for this horrible and deadly disease.
To donate or to learn more about this deadly disease please visit www.nnpdf.org.
WE CAN MAKE A DIFFERENCE.
The Hudson and Cardinal Family
[October 2nd, 2008]
7th Annual NPD October Awareness Month
NPD October Awareness Month Page
Hello NNPDF Families and Friends,
We at the NNPDF know that together, we CAN beat this devastating disease
which robs parents of their children, and children of their lives.
It is with this goal in mind that the NNPDF is excited to announce the
7th Annual Celebration of October as National Niemann-Pick Disease Awareness
Month.
You should have received a family packet in the mail from the foundation
offices encouraging your family efforts in support of raising awareness
into NPD within your communities during October 2008!
The NNPDF is your "one-stop-shopping" for all of your needs
related to a diagnosis of NPD. Be it ~ educational, informational, family
support and networking, research, medical and clinical, awareness, or
fund raising ~ we are here to help you in all these capacities. In addition,
we work diligently on your behalf to garner support and resources from
the leading medical and clinical doctors, scientists and researchers
from around the world to keep you informed and up-to-date on the latest
regarding NPD.
The volunteer members of the NNPDF board, all parents and family of children
and young adults diagnosed with NPD, work continually to identify new
opportunities where we can be of assistance and support to our families
and their treasured children.
During October 2008 as NPD Awareness Month, we would like to encourage
all of our families to consider hosting an awareness event and/or fund
raising campaign in honor of their loved one and in support of the NNPDF.
We have worked to make this project an easy one for you with various
program suggestions and are willing to help you create your own unique
events.
The Hempel Family appearance on "The Doctors" will assist many
of our families within their local communities as they work to garner
interest into NPD. This program can act as a great jumping off point
as you work to encourage interest and support on behalf of your loved
one(s)diagnosed with NPD.
The national awareness that these sweet, beautiful little girls and Chris
and Hugh have brought to the plight that each of you knows only too well
is certainly appreciated and applauded by all associated with NPD. Any
opportunity to raise awareness into this little known disease is such
a golden opportunity for each and every family..you never know what will
be just around the corner.
So, we wish to challenge each of our families to BE INSPIRED and to take
on a NEW CHALLENGE on behalf of your loved one with NPD and work to develop
YOUR OWN family community campaign to benefit the NNPDF.
For a listing of ideas and ways in which we can assist you from the NNPDF
office please refer to the recent mailing you received from the NNPDF
or visit our October 2008 Awareness web site page at:
/NPDOctoberAwarenessMonth.htm
We encourage you to contact the NNPDF Central office for any help that
you may need ~ we will be happy to assist you with your projects.
In addition, please be certain to keep the office advised of your events
as we will share your news with all of the families on the list serv
and track on the web site as well.
We are looking forward to working with you all during October 2008 ~
7th Annual National Niemann-Pick Disease Awareness Month.
All my best,
Nadine
[October 1, 2009]
**Family Notifications**
Lindsay Lee Fitzgerald (NPC)
The NNPDF Central Office was recently notified of the death of Lindsay Lee Fitzgerald from NPC. Lindsay was born on September 15, 1991, and died on August 15, 2008, at the age of 16.
Time is merely a treasure chest,
Keeping memories of you safely in our hearts,
Until we can hold you in our arms once again.
In Loving
Memory of
Lindsay Lee Fitzgerald
September 15, 1991- August 15, 2008
[Sept. 5, 2008]
Mitchell Flynn Harrower (NPC)
Mitchell Flynn Harrower, seven-year-old son of Douglas and Liat Harrower of Australia, passed away on the 10th of August 2008, at the Very Special Kids Hospice with his family by his side. Mitchell would have celebrated his eighth birthday in just two months' time. Mitchell's mother, Liat Harrower, said, "He looked like an angel." Mitchell will be sorely missed by his family, including his sisters Taylor and Rachael and brother Travis, and his classmates at Werribee Primary School.
In Loving Memory of
Mitchell Flynn Harrower
October 9, 2000 - August 10, 2008
[Sept. 5, 2008]
Cathryn Elizabeth Bouchard (NPC)
Our sweet little Cathryn died today, July 22nd, around
3:00 pm - the same time that Corynne died just a couple of months ago.
They arrived in this world at that same time - 3:00 and 3:01.
Last week we felt an urgency to get things arranged with hospice so that
we would be able to take care of Cathryn at home - I guess it was mother's
instinct. Last Friday evening she made a big turn for the worse and we
had to increase her oxygen flow a lot. Things progressed steadily from
there, and today she was really struggling.
None of us can really understand all of this. All I can say is that these
girls were truly loved by many people, especially their family, and they
have made a difference in so many lives and taught us so much in their
short time here on earth. Cathryn was 22 months old. Tonight was a fundraising
night at the local Chili's restaurants here in Frisco - they were donating
10% of sales tonight to the Angel Twins Fund.
It is at least comforting to think of Cathryn and Corynne being together
again in heaven.
We will send out information about arrangements in the next day or so.
Oh, and one other thing. We HAVE to find a cure for this disease. Please
continue to help spread the word about our Million Dollar Mission -
www.angeltwins.org
With broken hearts,
Kristen, Justin, Caleb, and Colin
In Loving Memory of
Cathryn
Elizabeth Bouchard
September 7, 2006 - July 22, 2008
(Sept. 5, 2008)
"Research Update "
This is a new Podcast from the Mayo Clinic featuring Dr Marc Patterson speaking about Niemann-Pick Disease Type C.
http://podcasts.mayoclinic.org:80/2008/07/11/niemann-pick-disease-type-c/
(July 15, 2008)
"Research Update "
'A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B'
published in 'Pediatrics', the Journal of the American Academy of Pediatrics.
http://pediatrics.aappublications.org/cgi/content/full/peds.2007-3016v1
The clinical information collected from this large group of patients provides important information about the clinical spectrum of NPB and has identified the major clinical features associated with the disease, including some that were previously unrecognized. The information gathered should help in determining clinically meaningful end points and disease markers for future clinical trials.
(July 15, 2008)
"Family Update "
Sam Roberts Family Unit
Womens and Childrens Hospital
Adelaide, South Australia
Today was a very special day
for our family.
Not only was it was Sam's 8th birthday, but it was also the official
opening
of the " Sam Roberts Family Unit" at the Womens and Childrens
Hospital in
Adelaide, South Australia.
Details of the opening are attached below.
Sam was a courageous little boy and we miss him dearly. Happy birthday
Sam.
We love you and miss you heaps.
Dad
Article about the new Sam Roberts Family Unit
(July 7th, 2008)
"Family Conference Update "
Dixieland Delight
The Georgian
Terrace Hotel
July 31st ~
August 3rd, 2008
Atlanta, Georgia
Hello NNPDF Families and
Friends,
The countdown to the 16th Annual NNPDF Family Support and Medical Conference
is closing in on the one month mark ~ we will all be in Atlanta, Georgia
beginning on Thursday, July 31st, thru Sunday, August 3rd, 2008.
This is a friendly reminder to all families and friends to complete and
send in your family conference registration form, as well as, to call
The Georgian Terrace and make your room reservations!! (You may fax your
registration forms to the office at: 920-563-0931 and
follow-up with the registration fees in the mail!)
The room block for the NNPDF will expire in the next week and we want
to ensure that you are able to book your rooms at the contracted rate
of: $99.00 per night (plus fees and sales tax). We were able to contract
this rate on two-bedroom suites for all of our families. It includes
a living area and kitchen!
Please use the Group Promo Code of: 38648 when you call to book your
two-bedroom suites.
You may contact the Georgian Terrace Hotel directly at:
1-404-897-1991
~ or via their toll free line ~
1-800-651-2316
Remember to note: Group Promo Code: 38648 (National Niemann-Pick Disease
Foundation, Inc.)
Our family conference hosts ~ Melissa and Jimmy King are excited that
so many of our families we be heading to Atlanta, Georgia this summer!!
The weather is not the only thing that will be "HOT HOT HOT" as
the agenda and conference activities promise to be exciting for all.
If you have any questions ~ or require any assistance with this matter
~ please feel free to contact me at the NNPDF Central offices.
We can't wait to see you all in Atlanta! Check out the foundation
family conference page for more details:
/familyservices_03.html
Nadine Hill
Director of
Family Services
NNPDF
[June 28, 2008]
"Family Update "
5K Run/Walk for a Cure
In honor of
Adam Recke
Lehigh Parkway
Allentown, PA
Approximately 800 people supported the third annual 5K Run/Walk for a Cure. The race, which is held each year in scenic Lehigh Parkway, brings together those who want to race and those who love Adam Recke. Many of the walkers and runners are Adam's family and friends within the Salisbury Township School District and Bethlehem area School District. This year's T-shirt color was chosen by Adam. The creative design read, "We walk today, to find a cure for tomorrow!" As 10 a.m. approached on June 14, a beautifully large orange crowd gathered around center stage where Sean Recke and his son, Adam as well as Race for Adam Foundation President, Matt Tobias welcomed everyone.
Salisbury student, Abbey Eichorn opened the event with the singing of the National Anthem. Matt Tobias, also a seventh grade social studies teacher at SMS, commented, "The Race for Adam Foundation is a nonprofit organization whose goal is to raise money and awareness for funding a cure for this disease. ... Adam was diagnosed with Niemann-Pick Type C Disease in 2005.
Niemann Pick Type C Disease is a genetic pediatric neurodegenerative disorder that affects children and leads to a series of neurological problems that are ultimately fatal. Adam is one of only 500 worldwide, with 150 of those being in the United States. He is one of four known children in Pennsylvania diagnosed with this disease. Because this disease is so rare, it does not get the publicity or exposure like other organizations. That is why we are grateful for your help."
Tobias continued by thanking his 5K Committee members and Adele Clemmer, fellow SMS teacher and Interact Club advisor. "I also need to thank the staff, students and parents of Salisbury Middle School who have given so much to make this day a success," added Tobias. Also thanked were the sponsors including Conway's BBQ, Farmersville Elementary School, Our Lady of Perpetual Help, Epworth United Methodist Church and Doreen Connelly who were the T-shirt sponsors.
Every participant received a race T-shirt and a goody bag filled with donated items from local businesses. "The support from friends, neighbors, and businesses in our community as well as throughout the United States has really helped the Recke family through their daily struggles," remarked Tobias.
At this early point in Tobias' welcoming speech, he became very emotional as he explained to the excited crowd that there was an overwhelming surprise for the Recke family. The Spina family, formally of Bear Sterns, had a special check. Tobias continued, "They say it takes a village to raise a child. We are fortunate to have such a village in the people whose lives Adam has touched while facing such adversity. The village is here, it's all of you. Some members of our village, the former partners of Bear Sterns, no stranger to adversity themselves, are here with a very special gift."
Dan and Carol Spina entered the stage with an oversized check for $50,000. This sum is the single largest donation received by the Race for Adam Foundation. A tearful Tobias concluded, "This donation reminds us that together, every person, every village... can make a difference in the life of a child."
At a few minutes after 10 a.m. on Saturday morning, the runners gathered to begin their 5K (3.1 miles) race as the walkers followed behind. The humid weather did not prevent the crowd of supporters from completing the challenge. The first to cross the finish line was Joe Dare in 16 minutes and 52 seconds. Amy Grab was the first female to cross the finish line; she completed the race in 19 minutes and 02 seconds. Joe and Amy both received a very large trophy from Adam at the conclusion of the event.
After runners and walkers rehydrated with an assortment of donated beverages and food, from Dominos, Conway's, Weis, Krank'd and Keystone Food Products, awards were announced center stage. Adam placed a medal around the top three runners per age group. In the 14 and under age group, the fastest runners were Eric Bushner and Amy Darlington. In the 15-19 age bracket, Brett McGee and Paige Marze (Salisbury junior) were the top runners. In the 20-29 age group, David Bronfenbrenner and Amy Bower were fastest. In 30-39, William Harris and Jennifer McCambridge won their age group. For 40-49, Kevin Berger and Karen Lehman placed first; in 50-59, Steve Foster and Diane Stanus won and in 60 and over, the fastest runners were Jackson Eaton and Lois Ketter.
As June 14 was also Flag Day, Pip the Mouse from Liberty Bell Shrine and their volunteers were handing out flags for all supporters during this uplifting event.
In less then five hours, the once populated Lehigh Parkway was again just a park. The tents, tables, food, beverages, basket raffle items, bands, Star Wars Stormtroopers, Moon Bounce, Persevere ware and volunteers had cleaned up and left the parkway to its tranquil self. And now, the Race for Adam Foundation moves onto its next fund raising event, Ride for Adam, to be held on Aug. 16 at the Schnecksville Community Fire Company Pavilion. For more information, please visit www.raceforadam.org .
[June 27, 2008]
"Family Update "
Canadian Chapter of the National Niemann-Pick Disease Foundation
You helped us do it again!!!
$22,500
Will be contributed to research!!!
Again, a huge THANK YOU to all of our family and friends and the fantastic businesses throughout Canada and the US that helped make our day the success that it was. Your contribution gets us that much closer to finding a treatment and cure for Niemann-Pick Disease. As I said on Saturday, I can’t wait for the day that we are hosting the tournament to support research into another disease because we have found the cure for Niemann-Pick.
We definitely had some little angels watching over us to give us such beautiful weather instead of the thunderstorms that had been promised. Please keep your calendars marked for June 20, 2009 for the 7th Annual Alex and Laura Vaughan Memorial Golf Tournament; See you then!!!
Tammy, Allan and Michael Vaughan
[June 23, 2008]
"In The News"
Here is a link to an article about our twins that was on the front page of the Metro section in the
Dallas Morning
News yesterday, June 12th:
http://www.dallasnews.com/sharedcontent/dws/news/localnews/stories/DN-sicktwin_12cco.ART.West.Edition1.46a8e4b.html
The print version headline was "Little girl battles big odds against
disease" and the smaller title was "Toddler has rare illness
that killed twin sister".
Love to you all from our family,
Kristen Bouchard
www.angeltwins.org
[June 13, 2008]
"Family Update "
Lisa and Jami Chavez recently held a fund raiser in
memory of their little girl, Breann Chavez (NPC) who passed away in the
summer of 2006 at age 3. Their family and community came out in Farmington,
New Mexico to rally around this annual "Little rubber duckie race" in
the spirit of Breann! They sold and raced 1,302 ducks this year, 302
more than last year.
Congratulations to the Chavez family and ALL of their supporters on the
success of their event!
Special kudos to Breann's young cousins, Malachi, Markus and Carlos who,
after finding out their duck was the winner, donated all of the prize
money ($1,000) back to the children with Niemann-Pick Disease! Here
is the letter we received from Lisa.
Wow, what a weekend. We are just know recovering.
We were so blessed to have family come in from California, Nevada, New
Mexico, and even Pennsylvania!
The day had a really slow start. The electricity kept going out in the
whole valley, so the band wasn't able to start on time, the bounce's
were down, our food needed electricity, and the whole place runs off
of an electric pump, so there was no water. AH! Finally it came back
on, only to go off again in the middle of our $2000 band! It stayed off
the rest of the afternoon, but by then we had generators in place and
could keep things moving. Needless to say, I was a little stressed for
the first part of the day and I was sure we wouldn't do as well as last
year.
But, I was worrying for nothing. The silent auction finally started moving
and in the end we sold more than last year. We ended up selling 1302
ducks, 302 more than last year and at the end of the day. We had the
same amount of people, it was just more of a come and go all day crowd,
compared to last year when it seemed everyone was there at the start
of the day. God, is certainly good in the mist of it all, isn't He?
Our feel good story of the day came at the end of the duck race. Breann
has three little cousins who remember her and loved her very
much, Malachi - age 11, Markus - age 9, and Carlos - age 7. They had
been playing with all the different ducks all weekend and picking out
their favorite (they are all different, baseball duck, army duck, beach
duck, act.) They all bought their ducks and decided if any of them won,
they would all split the money. (First place duck was $1000.00 cash)
They were going to do $250 to each of them and give $250 back to Ducks
for Bucks.
Well, wouldn't you know Malachi's duck won first place! And he and Markus
decided they should give all the money back. The funny part was the youngest,
Carlos was not so convinced that was a good idea. His brother told him "Carlos,
we have everything we need and these kids need help." He quickly
changed his mind and they gave it all back. Family was all telling them
to keep it, but they wanted to give it back and we were all so proud
of them. Jami and I were especially touched. What a great family we have.
It is good for all of us to honor Breann with such a special day during
this time. The next day was 2 years that we lost Breann. The boys decided
to
pick a duck out for Breann to represent each year. They picked out an
angel duck for last year and a kitty duck for this year and put it up
at her headstone, very touching again, they really loved her.
So any that was our day. Thanks for thinking of us and all your support.
We are all so blessed to have the support of the foundation
in each one of our fundraisers.
We would all be so lost without NNPDF helping us to PERSERVERE!
Lisa
[June 13, 2008]
**NIH Press Release**
On May 19, the National Institutes of Health (NIH) announced a new clinical
research program designed to provide answers to patients with mysterious
conditions that have long eluded diagnosis. Called the Undiagnosed Diseases
Program, this program will focus on the most puzzling medical cases dealt
with by physicians across the nation.
“A small number of patients suffer from symptoms that do not correspond
to known conditions, making their care and treatment extraordinarily
difficult. However, the history of biomedical research has taught us
that careful study of baffling cases can provide new insights into the
mechanisms of disease — both rare and common,” said NIH Director
Elias A. Zerhouni, M.D. “The goal of NIH’s Undiagnosed Diseases
Program is two-pronged: to improve disease management for individual
patients and to advance medical knowledge in general.”
“The NIH Clinical Center, the nation’s clinical research
hospital, provides an extraordinary environment for excellence in both
patient care and collaborative clinical investigation,” said Dr.
John I. Gallin, Director of the NIH Clinical Center. “This new
program will capitalize on a rich set of skills already at the Clinical
Center to help patients with unusual medical conditions. These patients
partner with us in clinical research to identify new diseases or new
treatment.”
Twenty five senior clinicians, whose specialties include endocrinology,
immunology, oncology, dermatology, dentistry, cardiology and genetics
will lead the team of clinicians who will evaluate patients invited to
the NIH. Dr. William A. Gahl, M.D., Ph.D., clinical director at the National
Human Genome Research Institute (NHGRI), who is an expert on rare genetic
diseases, will serve as director of the new program. “We have developed
a stringent referral process to ensure this program deals with those
cases that have truly confounded medical experts,” Dr. Gahl said. “We
will be very selective when it comes to patient eligibility. Our focus
is strictly on conditions that have not been diagnosed.”
To be considered for this NIH pilot program, a patient must be referred
by a physician and provide all medical records and diagnostic test results
requested by NIH. Patients who meet the program’s criteria — as
many as 100 each year — will then be
asked to undergo additional evaluation during a visit to the NIH Clinical
Center that may take up to a week.
In organizing the Undiagnosed Diseases Program, NIH has reached out to
patient advocacy groups like the National Niemann-Pick Disease Foundation
that often serve as a source of information and support for people struggling
with mysterious ailments. “We hope to build upon our strong working
relationships with many patient advocacy groups. These organizations
provide a crucial link in our nation’s efforts to improve human
health through biomedical research,” said Dr. Groft. “We
hope that this new partnership of NIH researchers, advocacy groups and
patients will give hope for many Americans who now face troubling medical
symptoms with no clear diagnosis.”
For more information about the Undiagnosed Diseases Program, go to: http://rarediseases.info.nih.gov/Undiagnosed.
Physicians and patients with specific inquiries may call the NIH Clinical
Center clinical information research line, at 1-866- 444-8806.
How the NIH Undiagnosed Diseases Program Might Help the NNPDF and Our Families
We have often heard about the diagnostic odysseys of patients and families as they yearn to clarify the underlying cause of illness in a family member. Too many times, NPD patients go from doctor to doctor, searching for someone who understands the symptoms and can help. With this new program, perhaps this odyssey will lessen and ultimately be eliminated. One of the goals of this program is to have the NIH clinicians publish clear and effective approaches to diagnosing patients who have rare disease. Perhaps one of these approaches will lead to prompt diagnosis of late onset NPC, or to early recognition of intermediate type A/B disease. Further, with more immediate diagnosis, families will hopefully find the NNPDF more quickly, and benefit from the wealth of support and resources available to them, lessening their struggle to provide care for their loved one. This is an exciting advance in medical care for patients with rare disease!
[May 30, 2008]
**Announcment**
Governor of Florida Proclaims May 31st
"National Niemann-Pick Awareness Day"
Hello my NPD Family:
Tomorrow, (May 27th) will be Ryan's birthday, it will be a tough day.
Our family will hoist balloons with messages of love to him. I have dedicated
my (myspace page) for him if anyone would like to see a wonderful little
man. The connection is
www.myspace.com/foreverryan
. Our
Memorial Ride will be this coming weekend May 31st, pray for no rain.
We received our Proclamation from the Governor declaring National Niemann-Pick
Awareness Day May 31st in Florida. The Mayor will present the Proclamation
to our family. The community has been wonderful and eager to learn about
this disease and help.
Thinking of you all,
Sherry Richardson
[May 27, 2008]
**Announcement**
2008 NNPDF Family Directory
Please be advised that the new 2008 NNPDF Family Directory has been mailed from the NNPDF Central Office to our family membership. Please watch your mail for this updated family networking support item. If you note any errors and or needed edits/corrections ~ please forward to: [email protected] .
If you fail to receive a copy of this document, please
contact the NNPDF Central office at: [email protected] to request
a copy.
[May 22nd, 2008]
**Announcement**
~ Communication Support ~ NNPDF Family List-servs ~
The NNPDF offers four email lists for use by Niemann-Pick families, friends, caregivers, and other interested parties. The lists are a place where you can share your thoughts, ideas, and challenges with others who have faced Niemann-Pick Disease. Ask questions, raise concerns, express your feelings, or simply listen; the lists are made available to help meet your needs during this journey. We offer a NPD Type A, NPD Type B, NPD Type C and a memorial "For The Angels" group.
A recent posting to our Type C family list serve from one of our participants really embodies the spirit and support that the list-serv is meant to offer to our families. That message is listed below. If you wish to join any of our list-servs please follow this link: /familyservices_05.html ~ or ~ contact the NNPDF Central office for additional assistance at: [email protected]. Thank you.
Posted to the NPD Type C List-serv May 15th,
2008:
I just don't understand some people. We as mothers to these kids,
just want the most for our children. This list-serv is an absolute
god send. Someone's words to me today were so true, we all need this
list-serv to get answers, suggestions, experiences, trials etc from
, as without all you people our information is so limited and frankly
only from Medical people who have no real insight to what it is like
living with your dearly loved child with NPC.
We need to know what MAY lay ahead for our kids in preparation for, not only them, but us and our families. We are desperate as mothers, searching for a cure and help for our babies. We should be able to say what we want, feel what we feel, without worrying about other people who don't even live with this dreadful disease on a day to day basis, think if they choose to read info on this list-serve. There is not one other person in the world who can love their child any more than a mother. We carried them for nine months, we gave birth, we breast fed them, we got up to the crying baby at night, we did all that stuff (those who are lucky enough have help from a supportive husband, but not all) how dare anyone that is not the mum of these kids critisize us with our communicating and venting on this NPC site. Keep your heads held high mums, everyone of us no matter what stage we are in with our kids, are doing the best job we can only do... I'd like to see some of these critics deal with what we have to. Sorry but had to blow off steam as someone had something not so nice to say about a mothers feelings and venting... We all need each others support and this is the place to truly get the understanding that we mums need.
May 16th, 2008
**Family Update**
Hello all:
I wanted to let you know that we had an event in Reno on Saturday night
that was a huge success - over 900+ people came to the event and Melinda
Doolitte of American Idol fame and Terry Fator of America's Got Talent
performed. It was a magical evening with a live and silent auction and
we're still tallying up what we raised. I just wanted to let you all
know that there are lots of people who want to help our kids beat this
devastating illness. We must unite globally to get our message out.
We put together a video with NPC kids all around the world. We tried
to include everything that people sent as far as images - we could not
include video. Melinda Doolittle performed "Be Blessed" to
the video of the kids - it was incredible and everyone was touched. You
can watch the video here if you have Quicktime -
http://www.blissium.com/NPC/montage.html
-
when I post it on YouTube I will send out the link to everyone and this
will have Melinda singing with it.
I want to continue to do the videos - I hope you will continue to send
me pictures of your kids, both healthy and where they are today even
if they are not doing well. I want to continue to do videos.
Also, I want to let everyone know that the National Chemical Genomics
Center is gearing up for unprecedented drug screen - they will test over
12,000 known drugs against NPC cells to see if they can find any available
drugs to treat our children and moves cholesterol through their cells.
We have been working on this for six months. Please, please start praying
everyday that they can find some hits.
Best,
Chris Hempel
Mom to Addi and Cassi
[May 15, 2008]
**Family Notifications**
Corynne Michelle Bouchard (NPC)
My dearest NNPDF
families and friends,
It is with great sadness that I let you know of another young beautiful
child lost to Niemann-Pick Disease Type C. We received word from
Kristen Bouchard that little Corynne passed away on Sunday, May 4th,
2008.
Please keep his family and friends in your hearts during this difficult time. Our deepest condolences and heartfelt sorrow go out to her twin Cathryn, brothers Caleb and Collin, her parents Justin and Kristen, and other family members. Included is a note from her mom, Kristen:
"Our precious, sweet, ever-smiling Corynne is no longer sick - she died yesterday, Sunday, May 4th, around 3:00 pm. She fought an amazing battle against this horrible disease, and never complained about it. She taught us so much.
Our hearts are broken, but I know that she is finally able to rest and that she is in a place that is truly incredible.We will send out details about arrangements when they are made. I know I have said this so many times, but we are truly grateful for the love and support that our friends and family have shown to us. God bless you all.
Love,
The Bouchard Family"
In Loving Memory of
Corynne Michelle
Bouchard
September 7, 2006 - May 4, 2008
[May 7th, 2008]
**Family Notifications**
Michael Landry (NPC)
My dearest NNPDF
families and friends,
We received word from Maureen Landry that her son, Michael, lost his
battle with NPD Type C last week Wednesday (4/16/08)
after spending a wonderful day with surrounded by family and friends.
Please keep his family and friends in your hearts during this difficult time. Our deepest condolences and heartfelt sorrow go out to his family.
Damon Eli Cardinal (NPA)
It is with the heaviest of hearts that I advise
you of another young child lost to Niemann-Pick Disease Type A. We received
word over the list-serv that little Damon passed away also on April 16th,
2008 at the young age of 16 months with his mother and father holding
him.
Please keep his family in your hearts as they journey on in the days
ahead without their beloved little boy.
[April 17th, 2008]
**Family Update**
The family of baby Damon (NPD Type A ~ age 1 year) has sent an update on his recent status:
Hello,
We just wanted
to update everyone on how our little Damon is doing since coming home
February 8th.
Damon slipped into a coma last night and is sleeping peacefully.
His doctors said his heart is so very strong, but his liver is ready
to shut down. He has been such a little trooper through all his suffering.
Elsa & Delaney (Mom and Dad of Damon)
Damon just before his 1st Birthday
[April 15, 2008]
**Family Notifications**
Ibrahim Hamdan (NPC)
My dearest NNPDF
families and friends,
We received word via the NPC list-serv that little Ibrahim Hamdan has
lost his battle with NPD Type C last week Thursday (3/20/08) after
being in a coma for a week.
Ibrahim's older brother, Ahmad, also died from NPC.
Please keep his family and friends in your hearts during this difficult
time.
Our deepest condolences and heartfelt sorrow go out to his family.
Anthony Paul Sanchez (NPC)
It is with the heaviest of hearts that I advise
you of another young adult lost to Niemann-Pick Disease Type C. We received
word over the weekend that Anthony Paul Sanchez ~ NPC ~ passed away on
March 3rd, 2008 just a few days short of his 23rd birthday.
Please keep his family in your hearts as they journey on in the days
ahead without their beloved son.
[March 23, 2008]
**VOTE NOW ~ VOTE OFTEN**
Our very own, Barb Vorpahl, NNPDF Volunteer Board Chair, has been nominated as one of the top TEN finalists in the Madison, Wisconsin's Woman of the Year contest!! Voting begins TODAY, March 17th and ends on March 31st, 2008. The nominee with the most votes will garner a contribution to the charity of her choice, lots of recognition for her accomplishments on behalf of the her work and a shopping spree at Macy's!!
You may vote for Barb once-a-day until March 31st, 2008.
Woman of the Year
The NNPDF has been spirited on in great part due to the energy and perseverance of so many of our families and board of director members, one of the most prominent being Barbara Vorpahl. We can now take a moment to read her story as posted by her good friend, and work to share this information with our families, friends and community members. By sharing Barb and Stacey's story, we will also be sharing many of our individual stories of courage, strength and perseverance as our loved ones journey on with Niemann-Pick Disease. Read Barb's posting below, vote for her and share this with all of your family and friends. Thank you.
Charity: National Niemann-Pick Disease Foundation
It is every parent’s worst
nightmare, "Your child has a rare terminal disease with no treatment
or cure. Take her home and love her." Despite this devastating news,
Barb Vorpahl not only lovingly cared for her daughter, Stacey, until
her death from Niemann-Pick Disease (NPD) at age 19, but she persevered
over the years and applied lessons learned to help found and establish
the only patient support, education, advocacy & research group in
the United States for NPD.
Due to Barb’s diligent efforts the past 21 years, when a family
now receives this tragic diagnosis they are referred to the National
Niemann-Pick Disease Foundation (NNPDF), of which Barb currently acts
as the Board Chair in a volunteer capacity. The NNPDF, a non-profit agency
with foundation headquarters operating from Fort Atkinson, WI, offers
services free of charge to families with a loved one diagnosed with this
rare terminal disease.
Under Barb’s leadership, the NNPDF (www.nnpdf.org) just celebrated
its 15th Anniversary and is truly a life-line of support to NPD family
membership in the US & internationally. Foundation services have
grown and now include newsletters, educational materials/videos, medical
referrals, genetic counseling, an annual family support & medical
conference, as well as funding for research & scientific fellowships.
Barb inspires all who know her with her perseverance to create a living
legacy to Stacey and to ensure that
"today, well lived,
makes every yesterday a dream of happiness and every tomorrow a vision
of hope".
[March 17, 2008]
**Announcement**
16th Annual
NNPDF Family Support and Medical Conference
Thursday, July
31st, 2008 - Sunday, August 3rd, 2008
Atlanta, Georgia
The NNPDF Board of Director's along with our family hosts, Melissa and Jimmy King, are pleased to announce plans for the 16th Annual NNPDF Family Support and Medical Conference to be held in Atlanta, Georgia over the weekend of July 31st - August 3, 2008. This years theme: Dixieland Delight will certainly help to set the pace for another weekend conference filled with warm family experiences while offering the much needed clinical/medical information and research updates into NPD.
Please continue to watch this website for location updates and conference registration packets.
[March 2008]
**Introducing**
The NEW NNPDF Equipment Exchange Program
We have an exciting announcement for all of our Foundation members as we introduce the new NNPDF Equipment Exchange Program.
As NPD patient and family needs change during a chronic illness there may be equipment stored in homes that is no longer needed and could be put to use by another family.
Our goal is to ensure that all NPD families have access to equipment that they need to assist their loved ones affected by Niemann-Pick Disease. The NNPDF will assist families who wish to donate this equipment. The foundation will retain and post on the web site a log that describes the type, size and location of available equipment and information about equipment needs.
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. Their annual "Ducks for Bucks" event generated the monies to assist in offsetting the cost to ship equipment from home to home.
Please refer to the foundation web site at: Family Services/Information for Families/Equipment or via this link for more details and information: /familyservices_09.html
We are excited to be able to assist families with this new project and look forward to working with you all.
[March 5th, 2008]
**Introducing**
Understanding Niemann-Pick Disease Type C and its potential treatment.
We at the NNPDF are very pleased to let you
all know about a new, comprehensive booklet that is now available about
NPC. The booklet, called "Understanding Niemann-Pick disease type
C and its potential treatment," was written by Jackie Imrie and
Dr. Ed Wraith from the United Kingdom NPD program and is sponsored by
a generous grant from Actelion Corporation. It is an excellent overview
of all aspects of NPC for the physician and other health care providers.
It includes a summary of our current understanding of the disease processes
based on research, as well as a summary of the clinical symptoms of the
disease, genetics,diagnosis and treatment strategies. Because the authors
are from the UK,the printed booklet contains a resource list for the
UK, but I have updated our NNPDF resource page and will include it with
each US mailing. I have only a limited number of copies, so will be happy
to send one copy to any family that requests it. Please note: it is designed
for health care providers so may be a bit technical for some families.
Our intent is that you share it with your child's health care team.
If you would like a copy, please e-mail me directly at
[email protected]
.
Do not hit the reply button or your message will go to the list-serv.
Please include your mailing address in your note to help me more quickly
get the booklet delivered to you.
Regards,
Cate
[March 4th, 2008]
Hello NNPDF Family and Friends,
Word has trickled down from our friends to the "north" (Canada
~ that is!!) that the 7th Annual Life for Luke Foundation Charity Dinner
Gala and Silent Auction was, yet again, another HUGE success.
Enio and Lucy Liegghio, along with their event committee, somehow manage
to pull together unique and successful events year after year. In reality,
we know that it is through countless hours of volunteer time, talent,
sweat equity and PERSEVERANCE.
This years gala theme revolved around the mystery of NPC research and
accordingly puzzle pieces accompanied this statement:
"YOU are the most important piece to the "Life for Luke Foundation".
Help us to solve the mystery of NPC one piece at a time..."
Check out the "Life for Luke Foundation" home page at:
http://www.lifeforluke.com/gala2008.htm
This year, proceeds from their event are being sent to Sick Kids Foundation
of Toronto Canada and the Canadian Chapter of the NNPDF. Tammy Vaughan
and her family were able to attend the Gala on Saturday night and was "blown
away" by the number of attendees, as well as, the number of beautiful
and exquisite auction items and the unique take on the evening's meals
and entertainment.
The NNPDF would like to take a moment to add a note of thanks to the
Liegghio family and their supporters for the work that they are doing
in memory of Luke Daniel Liegghio (NPC: 05/05/97 ~ 06/10/05) and their
continued support of research into NPC.
Luke's Dad, Enio, penned this poem for his precious son which encompasses
so much for so many:
Do not cry for me as I am not here...
The sun is my smile,
The stars are my eyes,
The wind is my touch,
The rainbow is my endless love for you.
Words of thanks may be sent directly to the Liegghio web site at:
[email protected]
.
All my best,
Nadine
Director of Family Services
National Niemann-Pick Disease Foundation
[March 4, 2008]
Hello NNPDF Family, Friends and Supporters,
We have received word from contacts at the America's Giving Challenge that based on the account activity for the NNPDF in the America's Giving Challenge ~ we are one of the 50 nationwide non-profits with the greatest number of total donations and are eligible for an additional $1,000.
The NNPDF received over $4,700 in direct donations to the foundation via 146 contributors ~ not bad considering we only had two weeks to take part in this 8-week long program. Congratulations to all who supported our efforts!! Nadine
Congratulations!
Great news! Your organization has been awarded $1,000 through the America's Giving Challenge, an exciting online initiative designed to make giving part of living. Presented by Parade Magazine and the Case Foundation, with Network for Good as their donation partner, the Challenge called on participants to raise funds for and/or donate to the charities and causes they care about most.
The 50 nonprofit's with the greatest number of total donations made to them through Network for Good were then eligible for an additional $1,000. And your organization is one of the top 50. Congratulations!
We believe America's Giving Challenge has shown the true power of online philanthropy, and we're excited to reward organizations doing interesting, inspiring work. You clearly have a lot of people who care deeply about your cause.
And again, congratulations!
Yours in giving,
Network for Good, The Case
Foundation, and Parade Magazine
Rebecca Ruby
Marketing Specialist, Network for Good
[March 4th, 2008]
The NNPDF Board meeting will be February 1-3, 2008 in Milwaukee, WI. This is the main annual business meeting of the Foundation and will include budgetary approval, the annual business plan, and consideration of research grant applications. The meetings are open for NNPDF members to observe. If you wish to observe the Board meeting, contact Barb Vorpahl, Chairman for additional information.
[ Jan. 4, 2008 ]
New information about diagnostic and genetic testing for all forms of Niemann-Pick is available. A number of laboratories have recently expanded testing services for a variety of lysosomal storage diseases, including Niemann-Pick disease types A, B and C. This is particularly significant due to the recent discontinuation of some types of biochemical testing for NPA and NPB, especially prenatal testing in the USA.
DNA based testing, also called molecular testing, is now clinically available to look for mutations causing NPA and NPB in affected individuals, and is available in an additional 2 laboratories for NPC for testing of affected individuals. If such testing reveals the mutations that caused the disease in the affected family member, carrier testing for immediate family members and prenatal testing for the parents of the affected individual would also be available. Costs and time to complete the testing vary depending on the type of testing, the disease and the laboratory doing the testing. Interpretation of test results may be complex and thus involvement of a genetics health care professional (genetic counselor, genetics nurse, MD geneticist) in the testing process is highly recommended.
For more details about the testing, or for referral to local genetic services to obtain testing contact NNPDF's Coordinator of Education, Referral and Advocacy .
[ Feb 26, 2007 ]
A new list-serv is now available for Type A families, friends, and supporters. This email list allows families to communicate with others who face the same situation. You can join online or by email by clicking here .
NNPDF now offers four support list-servs - one for each Niemann-Pick Type (A, B, and C) and one for siblings. We also provide access to For The Angels, a list for families who have lost children to Niemann-Pick.
[ Jan 12, 2007 ]
The Type B clinical trial for enzyme replacement therapy has been approved by the FDA and recruiting has begun. The Phase I trial will recruit 15 patients to evaluate dose levels and possible side effects. Genzyme Corp. developed the enzyme replacement therapy and has worked to obtain FDA approval for this trial. There have been repeated delays as the FDA requested more information about clinical progression of Type B, manufacturing, and other issues. NNPDF has invited Genzyme representatives to the annual Family Conference for many years and the collaboration of Genzyme, Mount Sinai, and the Type B families has led to this exciting advance. News concerning the trial will be reported on this web site as it becomes available.
[ Nov. 16, 2006 ]