Niemann Pick Type C (NPC) is a rare genetic disease for which there is no current effective treatment or cure. Ultimately, NPC ravages the bodies and minds of its victims, who are all likely to experience seizures, psychosis, depression and hallucinations. Their speech becomes slurred and the have difficulty swallowing, probably requiring a feeding tube.
Death from complications of NPC he disease usually occurs in the teenage years or early adulthood; the median lifespan of an NPC patient is 16 years old. Early symptoms of NPC can vary significantly in childhood and may include:
Because it is a progressive, neurological disorder, one of NPC’s primary symptoms is dementia. As a result, research into NPC also offers a profound opportunity to understand – and someday to treat and cure – more common forms of dementia such as Alzheimer’s, which our parents, grandparents, and we ourselves may face.
NPC is an autosomal recessive inherited condition, meaning that each parent of an affected child has one functional NPC gene, plus one non-functional NPC gene. These parents are carriers of NPC and do not have the disease themselves, although recent research suggests that carriers may exhibit symptoms of other conditions. There is a 25% chance that each child of a carrier couple will have NPC.
For more information on NPC, click here http://www.youtube.com/watch?v=LKgQVz__-hM for a video featuring Dr. Marc Patterson, the world’s preeminent NPC clinician.