Both of my sons' Ryan and Brayden suffer from Sanfilippo Syndrome. There is currently no treatment or cure.
What is Sanfilippo Syndrome??
Sanfilippo syndrome is a genetic error of metabolism. It is a mucopolysaccharidoses, an MPS disorder, MPSlll. Mucopolysaccharides are long chains of sugar molecules, which are used in building connective tissues. When the body is finished using these molecules, it breaks them down, with enzymes, and disposes of them. Children with Sanfilippo syndrome are missing or are deficient in the enzyme to break down the molecules. Instead, the body stores these molecules in the cells.This storage causes progressive damage.
Sanfilippo syndrome is a progressive disorder, meaning that at birth the children appear typical and do not show signs of the disorder. As the disease progresses the children degenerate, losing the ability to speak, walk, eat and eventually lose their lives.
Team Sanfilippo Foundation is a non profit medical research foundation founded in 2008 by parents of children with Sanfilippo Syndrome. Our mission is to fund potential therapies that can be in clinical trials in the near future. We support Biotech, pharmecutical and research centers with potential therapies that are underfunded and provide assistance with connecting families to companies that need information for ongoing clinical work.
To learn more visit www.teamsanfilippo.org