Connor Dobyn’s parents recognized that their son was missing important developmental delays early on. They brought their concern to the doctor, where Connor was diagnosed with autism. For the next ten years, the Dobyns believed what they were told, but speech and occupational therapy did not help in any way. Finally, they decided to seek genetic testing to test the diagnosis. When the results came back they were stunned; Connor has Sanfilippo syndrome.
About Sanfilippo Syndrome
Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is a disease in which the body cannot break down long chains of sugar molecules due to a lack of enzymes. These chains then accumulate, causing the symptoms of Sanfilippo syndrome. This syndrome comes in four forms: A, B, C, and D, with A being the most severe.
The onset of symptoms typically occurs about a year after birth, but they are most severe between the ages of two and six. Symptoms include:
- Developmental issues
- Behavioral and personality issues
- Coarse facial features
- Sleep difficulties
- Stiff joints that may not extend fully
- Walking problems
This syndrome is inherited in an autosomal recessive pattern, meaning both parents must pass down the mutated gene in order for a child to be affected.
Doctors will diagnose Sanfilippo syndrome through a urinalysis, blood or skin sample, or genetic testing. Enzyme replacement therapy has been shown to be effective in some forms of mucopolysaccharidosis. Treatment is symptomatic and supportive.
Connor and his family’s lives were turned upside down upon receiving the correct diagnosis. Sanfilippo syndrome is typically fatal around the mid-teens, and there are no viable treatment options. In Connor’s mother’s opinion, this lack of medications is due to the minimal financial gain that pharmaceutical companies would make from creating a treatment.
In an effort to find a cure, the family has been fundraising and donating money to the Cure Sanfilippo Foundation, a nonprofit that works to advocate for patients and raise funds for clinical trials. While they are unsure of the future, they are fighting in every way to raise money and get Connor into a trial.
You can read more about Connor’s story here.