About Sanfilippo SYndrome
Sanfilippo Syndrome (also known as MPS III) is a progressive and fatal disease affecting 1 in 70,000 children. It is a genetic condition that affects the metabolism and results in severe damage to the Central Nervous System.
Individuals affected by Sanfilippo lack an enzyme necessary to break down long chains of sugar molecules. As these molecules accumulate in the cells, they start causing cellular dysfunctions, particularly in the brain, causing affected children to lose memory and forget how to walk, talk, and feed themselves. The life expectancy of diagnosed children is 10-20 years.
"We cheer on our children for every little milestone, every gain. How does a parent respond when it's going in the other direction?"
- Cara O'Neill (mother of Eliza O'Neill)
Symptoms
Speech delay
Recurrent ear/sinus infections
Large head size
Diarrhea/chronic loose stool
Poor sleep
Speech/developmental delays
"Autistic" behaviors
Hyperactivity
LATER FEATURES
Progressive intellectual disability
Seizures
Enlarged liver/spleen
Hearing loss (may occur earlier)
Loss of mobility
Loss of ability to eat by mouth