Sanfilippo Syndrome (MPS III) is a progressive and fatal disease affecting 1 in 70,000 children. A gene is passed on from each parent causing the disease. In fact, every 1 in 133 people carry a gene that causes Sanfilippo Syndrome! What happens to children with Sanfilippo Syndrome? Children lack a critical enzyme for recycling cell waste. Waste material builds up in every cell but especially the brain causing severe damage. Children do not show signs of the disease at birth. Symptoms appear between ages 2-6. Early symptoms are: speech delay, ear infections, large head size, diarrhea, symptoms of autism, and/or hyperactivity. Children eventually lose the ability to speak, walk, and eat. Most children with Sanfilippo Syndrome die in their teens. (Taken fromwww.curesff.org )
For more information, stories from families, and ways to help, click on the following links:
The family that the 50 Causes Ride knows:
Ross and Meredith Facebook Page
If you or someone you know has Sanfilippo Syndrome or any other RARE disease, go to Global Genes Organization for patient and caregiver resources and information.