ABOUT THE DISEASE
Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and are caused by genetic mutations. The three most common forms are Niemann-Pick Types A, B and C. Dillon was diagnosed with Type C Niemann-Pick (NPC) when he was three years old.
Patients with NPC are not able to metabolize cholesterol and other lipids properly. As a result, excessive amounts of cholesterol accumulate in the liver and spleen; excessive amounts of other lipids accumulate in the brain.
The symptoms of Niemann-Pick include an enlarged liver, loss of muscle control, speech deterioration, seizures, and progressive neurological and intellectual decline.
Dillon Papier, a child with
Niemann-Pick Type C Disease
Many children with Niemann-Pick die before they turn 10 years old. In most cases, neurological symptoms begin to appear between the ages of four and ten. Generally, the later neurological symptoms begin, the slower the disease progresses.
About 500 cases of Type C Niemann-Pick Disease have been diagnosed worldwide. Researchers believe the number of people affected is higher, but difficulties with diagnosis prevent an accurate assessment of the occurrence rate. For example, NPC has been 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 a longer life span but it is extremely rare for any person with NPC to reach age 40.