Nonketotic Hyperglycinemia (NKH)


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Fiona and Friends

Fitzpatrick and Nohelty Families



Sarb Family


Rare Disease Day 2016


Niemann-Pick Disease


Niemann-Pick Disease (NP) refers to a group of rare inherited lipid storage diseases in which harmful quantities of fatty substances (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.

Niemann-Pick, Type C (NP-C) is one of these genetic diseases and can occur in any community. It causes abnormal accumulation of cholesterol in cells of the body. Symptoms of NP-C include deterioration of memory and balance, seizures, lung and liver failure. The disease usually appears in early childhood. Currently, there is no cure, but supportive therapies are available and research is advancing.


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