What is Niemann-Pick Disease?
NPD (Niemann-Pick Disease) is a term for a group of diseases which affect the metabolism and which are caused by specific genetic mutations. The three most commonly recognized forms of the disease are Types A, B, and C. The National Institutes of Health has referred to NP-C as “childhood Alzheimer’s" because of the neurological similarities between the two diseases. However, children with NP-C face much more than just Alzheimer's symptoms.
For most children, neurological symptoms begin appearing between the ages of 4 and 10. Many children enter school at the same level as their peers. Generally, the later neurological symptoms begin, the slower the progression of the disease. Once the neurological breakdown begins the body follows. These children lose all mobility. They lose their ability to speak, play, and even eat, leaving many of them requiring nourishment from a feeding tube. Many suffer with seizures, and other pains they cannot express, leaving caregivers constantly guessing. The vast majority of children die before the age 20 and many die before the age of ten.
At this point, there is no cure for NPD. NPD is a genetic disease in which both parents carry one copy of the abnormal gene without manifesting any sign of the disease themselves. Children with NPD have both copies of the abnormal gene. Each time carrier parents have a child, there is a one in four chance of having a child with NPD. Due to the late onset of the disease and the slow diagnosis of this rare disease, parents may have multiple children before they are aware of the risk. Many of the families Ducks for Bucks help are faced with losing more than one child to NPD.