What Is Sanfilippo Syndrome?

Dr. Cara O'Neill, Chief Science Officer for Cure Sanfilippo Foundation, explains in simple terms what is Sanfilippo Syndrome, what causes it, what are some of the signs and symptoms of Sanfilippo, and the prognosis.

Sanfilippo Syndrome is like Alzheimer’s, but in children. It is a terminal, neurodegenerative disease that causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, and then die.

Sanfilippo Syndrome is caused by a single gene defect which leads to lack of a necessary enzyme in the body. This lack of enzyme results in the build-up of toxic storage in every cell, and is especially harmful to the brain. This build-up causes a cascade of detrimental effects and ultimately death.

Currently there is no FDA-approved treatment or cure for Sanfilippo Syndrome.

Children are born with Sanfilippo Syndrome, but it is invisible until they start exhibiting developmental delays or regression in their early years.

Early symptoms of Sanfilippo Syndrome are often: speech delays, frequent ear infections, poor sleep, “Autistic” behaviors, and hyperactivity.

More information about what is Sanfilippo Syndrome:
https://CureSanfilippoFoundation.org/What-is-Sanfilippo

Symptoms of Sanfilippo:
https://curesanfilippofoundation.org/what-is-sanfilippo/what-are-the-symptoms/

Testing for Sanfilippo:
https://curesanfilippofoundation.org/what-is-sanfilippo/if-you-suspect-sanfilippo/testing-for-sanfilippo/

Current Research on Sanfilippo:
https://curesanfilippofoundation.org/what-is-sanfilippo/current-research-on-sanfilippo/

Видео What Is Sanfilippo Syndrome? канала Cure Sanfilippo Foundation