In 2019, Connor Dobbyn, now 13, was diagnosed with Sanfilippo syndrome type C, also known as mucopolysaccharidosis III (MPS III). After his diagnosis, his parents came to recognize that there was no cure for Sanfilippo syndrome, which they describe in their GoFundMe as “Alzheimer’s, but in children.” They began raising money to fund the first-ever gene therapy study at UT Southwestern, but needed around $3M to get started. Altogether, the family has raised over $1M on their GoFundMe to support preclinical research and gene therapy development.

According to Sanfilippo News, at least $3,000 were donated from a special source: an 11-year-old boy, also named Connor! Connor Ridley knew that he wanted to help Save Connor, so he brainstormed and came up with a plan. He read as many books as he could for his school’s summer reading contest. After he won a new Huffy Beach Cruiser bike, Connor raffled the bike for $3K. In a heartwarming move, he then donated his money to help support the mission to save Connor Dobbyn. 

It is so lovely to see the younger generation working towards change and health solutions for all.

Sanfilippo Syndrome

Also known as MPS III, Sanfilippo syndrome is a rare, progressive neurodegenerative disease. Sanfilippo syndrome is inherited in an autosomal recessive pattern. In each of the four subtypes, a specific genetic mutation or deficiency prevents the body from effectively breaking down mucopolysaccharides, or long sugar molecule chains, including heparin sulfate. As these accumulate in central nervous system (CNS) cells, neurological and developmental problems occur.

Sanfilippo syndrome type A is the most severe form and is caused by SGSH gene mutations. In this form, patients do not have a normal heparan N-sulfatase enzyme. Next, type B results from NAGLU mutations, causing deficient or missing alpha-N-acetylglucosaminidase. HGSNAT mutations cause type C, in which patients have missing or deficient acetyl-CoAlpha-glucosaminide acetyltransferase. Finally, GNS mutations cause Sanfilippo syndrome type D, in which patients have missing or deficient N-acetylglucosamine 6-sulfatase. 

Symptoms may appear within one year of birth, but typically manifest between ages 2-6. These include, but are not limited to:

• Chronic diarrhea
• Joint stiffness and lowered mobility
• Difficulty walking
• Frequent infections
• Speech or developmental delays
• Larger-than-average head size
• Behavioral issues (compulsivity, hyperactivity)
• “Coarse” facial features
• Difficulty sleeping
• Seizures

Learn more about Sanfilippo syndrome.