Giving hope to children with Sanfilippo disease

Georgia is a beautiful 12 year old girl who’s never without a smile on her face.  But walking is becoming increasingly difficult, she can’t speak and she needs help with every aspect of taking care of herself.

Georgia

Georgia has Sanfilippo disease, also know as MPS III.  Sanfilippo is a mucopolysaccharide disorder.

Mucopolysaccharides are long chains of sugar molecules used in the building of bones, cartilage, skin, tendons and many other tissues in the body.

These sugar molecules are continually broken down by enzymes and replaced with new ones.  But Georgia doesn’t have these essential enzymes.

As a result, she’s becoming more and more disabled and her central nervous system is degenerating.

Enzyme replacement therapy (ERT) is proving to be successful in treating a few of the 21 MPS disorders.  But at the moment there is no ERT to treat Sanfilippo disease and children like Georgia don’t make it into adulthood.

Through the MPS Society, Jeans for Genes is funding research at the University of Manchester and Kings College London that it’s hoped will eventually lead to a treatment for Sanfilippo disease.  This research is very expensive and we need your donations to make sure that it continues.