What is Sanfilippo?

Sanfilippo Syndrome is a very rare genetic disorder. Approximately 1 child in 75,000 is born with Sanfilippo Syndrome. In 1963, an Australian scientist named Dr. Sylvester Sanfilippo identified this disease. A child with Sanfilippo Syndrome is born lacking a very important enzyme that is used to break down certain chemicals in the body.

If these chemicals are not broken down and disposed of, they will build up causing serious damage. As the disease progresses, multiple complications will arise in the child’s health.

Seizure activity, hearing impairment, liver and spleen enlargement, sleeping difficulties, loss of mobility, difficulty in treating common illnesses, problems with swallowing, pneumonia, vomiting, and diarrhea are all common with a Sanfilippo child.

Due to the progressive nature of the disease, these children typically only live to reach 10 to 14 years of age.