This is huge because testing for Lysosomal Storage Disease’s (Niemann-Pick A,B, & C,Krabbe, Pompe, Gaucher, and Fabry) can help immensely for families and eliminate some struggles with “What is wrong with my child!”. Even though many don’t have a effective treatment or cure, sometimes early intervention in the future could lead to drastic improvements in a child’s life if diagnosed. What if knowing at birth something simple could be done to help them live a normal life and drastically give them a longer life until a treatment or cure comes about????
Please visit the article here: Mo. Votes to Add 5 Diseases to Newborn Screenings
Learn about Niemann-Pick Type C


May 13th, 2009 at 4:13 pm
The tests for Niemann-Pick is for Types A & B. Type C doesn’t have a simple test ready to go. It is a more tedious process to properly diagnose.
Really good news for everyone though. It will help future families!