Sanfilippo Syndrome (also known as MPS III) is a progressive and fatal disorder affecting 1 in 70,000 children. It is a genetic condition that affects the metabolism and results in severe damages to the Central Nervous System (CNS). Sanfilippo is sometimes referred to Childhood Alzheimer’s.
Children with Sanfilippo start their lives as normal kids but within a few years, it all begins to be taken away. Children are born with a genetic defect passed on from their parents in which the child lacks an enzyme that is responsible for cleaning out cellular waste from the Central Nervous System.
Children experience hyperactivity, sleeplessness, loss of speech and other bodily functions, mental retardation, cardiac issues, seizures, loss of mobility, dementia and finally death.
The disease progression path and speed vary significantly from one child to the next, making it particularly difficult to predict. The disease symptoms cover a wide spectrum and some children may experience some of them but not others.
Children with this disorder usually pass away in their early teens, yet it is preceded by many years of severe disability.
