Joslyn Crowe, executive director of the National Niemann-Pick Disease Foundation (NNPDF), describes some of the different ways that parents cope with the news that their child has a rare, and often fatal, disease such as Niemann-Pick disease.
Niemann Pick disease is a group of rare disorders in which toxic levels of lipids accumulate in 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.
In the more severe cases, the condition leads to severe mental and physical symptoms that can be challenging for the child and their family. The NNPDF provides support for families throughout their journey.