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

Three Months Old First "official" portrait	Two Years Old Bike riding is a favorite pastime

Three Years Old Speech difficult to understand	Four Years Old Speech therapy prescribed, balance affected, arm broken in fall from bike

Four Years Old Excels at creating designs with blocks but has learning difficulties in pre-school	With 2-year-old sister

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

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 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 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).
	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.
	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 died on October 9, 2004, at the age of 19 years.

[March 1, 2010 mem]