Fundraising is extremely important when it comes to rare disease research, and recently a community came together to help a little boy living with Sanfilippo syndrome. Simon is 5 years old and from Austin, Texas, and he also has mucopolysaccharidosis type III (MPS III) – which is another name for Sanfilippo syndrome. There is currently no cure for this rare and fatal disease, but nonprofits like the Cure Sanfilippo Foundation are working hard to change that. The issue? They need lots and lots of money to conduct medical research.
That’s why Simon’s community rallied behind him on his sixth birthday to raise funds for the nonprofit. During the month of May, two organizations offered their help: Kendra Scott and Chipotle. Kendra Scott’s flagship store donated 20% of any purchase, and it also did the same for any online purchases made with a special code made between May 15th (Simon’s birthday) and May 16th.
And that wasn’t all! Chipotle joined in on May 18th by donating 33% of any order made with a special code or a showing of a flyer. It’s beautiful to see a community rallying behind a young boy and the rare disease community, and hopefully, we get to see much more of this in the future.
You can help out too! This is Simon’s GoFundMe, where you can donate directly to him and his family.
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, and treatment is symptomatic and supportive.
Find the source article at Fox 7 Austin.