Ohio Sanfilippo Awareness Day

November 16th

Oops, we misspelled “Sanfilippo”…

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!

All About Oliver

A Sanfilippo Story by Grammy L…

On January 6, 2021, Governor Mike DeWine signed House Bill 32, the larger bill that Senate Bill 275 was added to, recognizing November 16 as Sanfilippo Awareness Day in Ohio forever.

Woohoo Jen and Brian! This bill happened because of you.
You have so bravely been sharing the story of Oliver’s tomorrow.
And people have listened and responded in amazing ways!

In October 2019, Oliver’s Sanfilippo Syndrome diagnosis was confirmed. Our hearts stopped beating.

“Sanfilippo is a terminal, neurodegenerative disease that causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, and then die. Simply put, it is like Alzheimer’s in children.” (Glenn O’Neill… Dad, Donor, and President of Cure Sanfilippo Foundation)

How could this be the fateful future for our love-love boy… a single gene defect? Genetics can be cruel. Oliver’s little body lacks one necessary enzyme… one! But this missing enzyme creates

a toxic buildup in every one of his cells. This toxic storage is especially harmful to his brain. Currently there is no FDA-approved treatment or cure for Sanfilippo Syndrome.

Our family cried, hugged, cried, mourned, cried, grieved, cried, collapsed, cried, reached out, cried, found support, cried, picked ourselves up, dried those tears and turned them into more controllable sniffles… and went into action mode sharing Oliver’s Tomorrow and spreading an awareness of Sanfilippo Syndrome.

At this time Oliver attended Christ Lutheran Children’s Center Preschool where the staff, teachers, and administrators sponsored a Sanfilippo Awareness Day on November 16th. The school called all the parents in Oliver’s class and purchased purple Sanfilippo shirts for all the children to wear. It just happened that Dave Salisbury, who works in government relations, had a daughter who attended preschool at Christ Lutheran. (I know what you’re thinking!) And yes, Dave got the ball rolling to expand the arena of Sanfilippo awareness from the community to the state of Ohio.

And this is where Frank Strigari came into the picture…

Ohio Senate Chief Legal Counsel

Frank and Brian attended high school together in Cincinnati and was in Jen and Brian’s wedding. (And now you get the bigger picture…)

Oliver’s diagnosis inspired Dave Salisbury and Frank Strigari to leverage their professional expertise to get November 16th officially recognized as Sanfilippo Awareness Day in Ohio. State Senator Stephanie Kunze agreed to sponsor the original bill, Senate Bill 275, having learned about Sanfilippo Syndrome a few years before at a local constituent’s lemonade stand fundraiser for Cure Sanfilippo Foundation. The cause touched her heart then and now she was inspired to follow her heart.

State Senator Stephanie Kunze (R-Upper Arlington)

Glenn O’Neill, Dad, Donor, and President of Cure Sanfilippo Foundation participated, via Zoom, in the virtual bill-signing ceremony, along with Jen and Brian.

”This bill is a great reminder of the power in every single action, every effort to spread awareness… Thank you to Dave, Frank, and Sen. Kunze for all the work you did to make this bill a reality… And to each and every one of you who keep spreading awareness about this terrible disease. Every action, every moment makes a difference. And it means the world to all of our families.” — Glenn O’Neill

Ditto that from Grammy L…

A few days later, Jen and Brian received a handwritten note in the mail from Governor DeWine.