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The progression of Niemann-Pick Disease

The progression of Niemann-Pick Disease is highly variable.   Even two children diagnosed within the same family may not follow the same rate of progression.  Below are photos depicting the progression of Niemann-Pick Disease Type C for two children in particular, as chronicled by their parents.

Also, check out these links to more "parent perspectives:"

A Parent's Perspective of the Clinical Trial Process (NPC) -- Susan Green
Stacey - A True Hero (NPC)-- Barb Vorpahl
And This My Child (NPC)-- Lisa Chavez (YouTube Video Poem)
One Child's Timeline through NPA (Mia Walts) -- blog post
What You See and What You Don't: Diagnosing Niemann-Pick, Type C (Daniel Flinton) -- Jill Flinton

 

Adam Michael Ward (NPC)
1/13/90 - 6/4/00

Adam as a baby Adam two years old
Three Months Old
First "official" portrait
Two Years Old
Bike riding is a favorite pastime
Adam three years old Adam four years old
Three Years Old
Speech difficult to understand
Four Years Old
Speech therapy prescribed,
balance affected,
arm broken in fall from bike
Adam four years old Adam with two year old sister
Four Years Old
Excels at creating designs with blocks
but has learning difficulties in pre-school
With 2-year-old sister
Adam six years old Adam seven years old
Six Years Old
Gross and fine motor skills suffer,
occasional incontinence,
cannot keep up in kindergarten,
hospitalized after grand mal seizure,
diagnosed with Niemann-Pick Type C
Seven Years Old.
Adjusts well to placement in special ed,
vertical gaze problem apparent,
speaking tapers off
Adam seven years old Adam eight years old
Seven Years Old
Falls increase in frequency & severity,
seizures increase

Eight Years Old
Walks only with assistance,
attention drifts, no longer speaks,
begins having difficulty swallowing,
supplementary feeding through stomach tube required

Adam nine years old Adam died on June 4, 2000, at the age of 10 years.
Nine Years Old
Wheelchair-bound,
unable to swallow,
fed totally through stomach tube,
completely incontinent,
arm strength/control diminishing
 
 
Stacey Lynne Vorpahl (NPC)
1/3/85 - 10/9/04
Our daughter, Stacey Lynne, was born January 3rd, 1985.  She was jaundiced at birth but otherwise seemed happy and healthy. Stacey baby
Stacey on the beach

Stacey was only 18 months old when she was diagnosed with NPD due to an enlarged liver and spleen.  She exhibited no other symptoms other than slight balance problems.

By about age five, Stacey was exhibiting vertical gaze palsy, slurred and repetitive speech, learning problems, and cataplexy (sudden loss of muscle tone). Stacey dancing
Stacey and mom with calf When Stacey was seven, seizures began and her falls increased in frequency and severity.  She was no longer able to speak, had difficulty swallowing, and walked only with assistance.
By age nine, Stacey was confined to a wheelchair and was completely incontinent.  Her arm strength and control was diminished, and the seizures increased in frequency.  Stacey was now unable to swallow, and so was fed solely through a stomach tube. Stacey and sister in the pool
Stacey at Christmas Chronic respiratory problems had set in by the time Stacey was thirteen.  She had lost all motor control and the frequency of seizures had increased to 15-20 per day.
By 18 years of age, Stacey had lost her sight, a tracheotomy was needed and 24-hour skilled nursing care was necessary to keep her airway clear. Stacey and Kim at high school
Stacey graduation picture Stacey died on October 9, 2004, at the age of
19 years.
 

[March 1, 2010 mem]