Sanfilippo Syndrome is a genetic error of metabolism. 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 these molecules. Instead, the body stores these molecules in the cells. This storage causes progressive damage. It is an autosomal recessive hereditary disorder, which means both parents must be carriers in order for the child to be affected.
Children who have Sanfilippo Syndrome may experience some of the following
- Hearing loss
- Speech delay/loss
- Insistent need to chew
- GI upset causing diarrhea
- Swallowing difficulties
- Feeding tubes
- Loss of mobility
- Sleep issues
- Difficult behavior
- Upper respiratory infections
- loss of life. Life expectancy is 10-20 years
There is currently NO CURE or TREATMENT for Sanfilippo Syndrome.
These children deserve a fighting chance to