Talk to any family suffering with Niemann Pick C and most all their stories begin the same..." ..we couldn't figure out what was wrong. " This is not acceptable.
Common symptoms are an enlarged spleen and liver disease of unknown origin at birth. Loss of motor skills, clumsiness and delayed or missed milestones in early childhood are telling symptoms as well.
Many doctors and researchers have been working on this disease for over a decade. Its time we recognize their work and help our kids at the same time. Email for a template letter if you would like to spread the word. It includes a list of common symptoms, typical progression and present treatment options.
February 29th, 2012 is National RARE Disease Day.
There are 7000 diseases classified as rare and 95% of them have NO FDA approved treatment. Niemann Pick Disease is once such rare disease. Like the Global Genes Project on Facebook to show support.