As a society we are somewhat familiar with common diseases such as Cystic Fibrosis, Multiple Scleroses, and Muscular Dystrophy. However, a name like, “Niemann-Pick Type C disease” leaves you wondering.
This genetic, neurodegenerative disorder strikes children through accumulation of cholesterol and other excess fats in the cells of the liver, spleen and brain. When brain cell function is blocked NP-C children lose coordination, stumble, fall and eventually need to be in wheelchairs, sleep in a hospital bed and utilize other adaptive equipment. As the disease worsens other devastating symptoms develop including loss of the ability to speak, swallow, laugh, remember, and often seizures occur. The health of children with NPC deteriorates until ultimately, the disease claims the child’s life. It is estimated that the diagnosis of this disease affects approximately 500 people worldwide (NPC).
NPC has been initially diagnosed as a learning disability, mild retardation, “clumsiness,” and delayed development of fine motor skills. It is not uncommon for a family to spend several years seeking a diagnosis before NPC is identified.
NPC is always fatal. The vast majority of children die before age 20 (and many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person with NPC to reach age 40.
