What is NPA?
Niemann-Pick Disease Type A (NPA) is an extremely rare lysosomal storage disorder, which causes neurodegeneration. The science of it is that children produce less than 1% of the enzyme acid sphingomyelinase (ASM) required to metabolize a lipid (fat) called sphingomyelin. This lipid accumulates within the cells, eventually causing cell death and malfunction of the major organ systems (mainly liver, spleen, lungs and the brain).
The reality of it is that NPA leads to an early death, anywhere from 15months to 3+ years. And before they are gone, they are taken from their families by way of severe developmental retardation and regression.
There is no treatment and there is no cure.
NPA is an autosomal recessive genetic disease – one that affects approximately three to four American children a year, making the odds about 1 in 1.3 million.
Read more about the myths surrounding this disease, and get links to other family blogs at www.teamlinzer.com/p/niemann-pick.html
