Justin Hopkin, MD is the father of a child with Acid Sphingomyelinase Deficiency (ASMD), also referred to as Niemann-Pick types A and B. He is also the Board Chair for the National Niemann-Pick Disease Foundation (NNPDF), a patient advocacy group that helps families cope with the news that their child has a rare, and often fatal, disease.
Niemann-Pick disease is a group of rare disorders in which toxic levels of lipids accumulate in various organs, including the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
As Dr. Hopkin explains in this video, numerous treatments are in development for both ASMD and Niemann-Pick type C.
For more information about this and other lysosomal disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/