On January 6, 2021 Governor Mike DeWine signed a bill declaring November 16th Ohio Sanfilippo Awareness Day. Our family created postcards to send out to friends of Oliver asking each one to just pass along the postcard to someone else to raise awareness of this terminal neurodegenerative rare disease.
Children are born with Sanfilippo Syndrome, but it is invisible until they start exhibiting developmental delays or regressions in their early years. It affects 1 in 70,000 children.
Oliver was 3 when Jen and Brian grew concerned about his behavior and reports from his preschool that he was falling behind. Jen checked out stacks of books about discipline and diet and signed up for parenting classes with Brian, convinced they were not good enough parents. Oliver qualified for physical and occupational therapy at school. He received speech therapy as well. Finally, they found out they were great parents. Oliver, however, was born with a single, yes a SINGLE gene defect in his DNA that causes his body to lack a necessary enzyme that breaks down heparan sulfate, a natural cellular waste. This build up of heparan sulfate gradually clogs his body and especially his brain with toxins that cause a cascade of detrimental effects and ultimately death in his early teens. And there is NO CURE! There is no FDA-approved treatment or cure. Clinical trials are happening and other treatment strategies are in pre-clinical research and require funding. (curesanfilippofoundation.org)
On July 5th our family had a “play date meet-up” at Wolfe Park in Bexley, Ohio with the founders of the Cure Sanfilippo Foundation, Glenn (Dad, Donor, and President) and Cara (Pediatrician and Assistant Professor) O’Neill. They are the parents of 11-year-old Eliza who was diagnosed in 2013 and her older brother, Beckham. Katie Walton (VP of Marketing for the Cure Sanfilippo Foundation) and her husband and 3 children attended as well. And 9-year-old, Reagan McGee with Sanfilippo and her parents Karin and Pete joined us as well.
I posted every photo I took because we celebrate every moment of these innocent children’s lives!
Sadly, Reagan McGee slipped away in her sleep 2 weeks later. Jen, Brian, and I attended her Visitation tearfully paying our respects to a beautiful little girl whose life was taken away by Sanfilippo Syndrome. And what do you say to her parents? I could only hug them tightly and cry. I made friends with two more Sanfilippo children while I was there. They were both several years older than Oliver. Austin was in a wheelchair, a beautiful boy who no longer could speak, but his eyes did all the talking. And there was Abigail, a feisty redhead… She had a feeding tube. Sanfilippo, you are so unkind and unfair! Damn you!
On August 14th we hosted our first Lemonade Stand to raise money for researching a cure for Sanfilippo Syndrome and we honored the life of Reagan snatched away all too soon by this cruel genetic fate.
Please help us share awareness for Sanfilippo Syndrome today!
One thought on “Ohio Sanfilippo Awareness Day”
Thank you for the beautiful postcard that I received in the mail yesterday. I will hang it in the library where I’ll be wearing purple at work today.
Love to you all, Cheryl