What is Sanfilippo Syndrome?
Imagine Alzheimer’s, but in children.
In a nutshell, that’s what every family of children with Sanfilippo Syndrome faces.
Sanfilippo Syndrome (also known as MPS III) is a rare, progressive, and fatal disease affecting 1 in 70,000 children. It is a genetic condition that affects the metabolism of complex molecules and results in severe damage to the entire body, but most significantly to the brain.
One family's story
This video is the story of Eliza O’Neill and her family. It’s a story similar to the one every Sanfilippo families experiences. Please take a moment to watch.
What Causes Sanfilippo Syndrome?
Children with Sanfilippo are born with a change in their DNA so their bodies are unable to breakdown heparan sulfate, a natural cellular waste. Instead, their bodies and particularly brains become clogged with toxic levels.
What Are the Symptoms and Prognosis?
The effects of Sanfilippo start at birth, but don’t become noticeable until 2-6 years old. As the toxins build up because of Sanfilippo, the cellular damage progresses. Relentless and devastating, Sanfilippo has 100% mortality rate, with children typically passing away in their early teens.
How Is Sanfilippo Diagnosed?
It often takes years to receive a correct diagnosis of Sanfilippo Syndrome. Due to its rarity and lack of physician awareness, a child’s symptoms are often classified as developmental delay and/or Autism until a thorough medical workup is done to identify the underlying cause.
Where Does Research For a Cure Stand?
Today, there is no FDA-approved treatment or cure for Sanfilippo. Clinical trials are happening, and other treatment strategies are in pre-clinical research and require funding.