Sanfilippo Syndrome (MPS III-A,B,C,D,E) is a progressive and fatal neurodegenerative disease affecting 1 in 70,000 live births. It is an autosomal recessive genetic condition which affects the function of critical lysosomal enzymes resulting in excessive storage of heparan sulfate. Though toxic build-up occurs in every cell in the body, the earliest and most severe manifestations are within the central nervous system. Progressive dementia, extreme behavior and sleep disturbances, seizures, and early death in the teen years are hallmarks of Sanfilippo. Due the rapid degeneration of this terminal disease, like a childhood Alzheimer’s, it is literally a race to help Sanfilippo children. Today there is no proven treatment or cure. Our Foundation is out to help change that. Our long term goal is a day when newborn screening exists and proven treatment or cure can be delivered soon after diagnosis. The work must be done in an urgent fashion as the lives of children living today hang in the balance.
Cure Sanfilippo Foundation was founded in November 2013, with a mission to advocate for and fund research directed towards a cure or treatment options for children with Sanfilippo Syndrome. The Foundation was founded by Glenn & Cara O’Neill, whose daughter Eliza was diagnosed with Sanfilippo Syndrome in July of 2013. In its first 3 years, the Foundation has raised $3.2M towards the mission. The Foundation raises funding to advance the most promising scientific research around the world. We have funded research projects in gene therapy, enzyme-replacement, gene modified mesenchymal stem cell, among others. We drive collaboration by supporting and uniting Sanfilippo families working toward a common goal. The families are core to our fundraising, awareness and advocacy efforts. We hold group calls with Sanfilippo families and facilitate calls with Sanfilippo Foundations around the world. We advocate for earlier diagnosis and introduced a resolution through the American Academy of Pediatrics for improved early diagnosis of MPS disorders, which was passed at the national level. We advocate for newborn screening and work with EveryLife foundation to promote advancement for all rare disease. We increase awareness among medical professionals, the general public, and have had hundreds of media outlets cover our Foundation (including The Today Show & The Doctors TV Show). We have a database of over 30,0000 supporters and created “viral” videos that amassed over 1 million views. It is that continued support that has allowed us to make a difference. Many people coming together for one common goal: Cure Sanfilippo. Please join the fight with us. We need YOU.