COLUMBUS, Ohio (WCMH) — Sanfilippo Syndrome is a rare genetic disease often referred to as “childhood Alzheimer’s.”
After Jennifer and Brian Kelly received the devastating news their son was diagnosed with the disease, they made it their mission to spread awareness and hopefully find a cure.
Five years ago, Jennifer and Brian welcomed their firstborn child, Oliver. A healthy baby upon birth, Oliver developed quickly learning to laugh, walk, and play until he was about three and a half years old.
“We would notice more and more that he would kind of zone out a little bit and you’d be ‘Oliver! Oliver!’ and sometimes it would take him a couple minutes to come back to it,” said Jennifer Kelly.
It was during that time that Jennifer and Brian started on Oliver on behavioral therapy.
“It was when we started to see a regression in some of the words that he knew,” said Jennifer. “He was always so excited about the alphabet. There was some of that cognitive regression.”
Their pediatrician started neurological and genetic tests, and Oliver was diagnosed with Sanfilippo Syndrome, a genetic disease where he is missing an enzyme to break down waste in his body, specifically, his brain.
“I just flipped furiously through this packet to get to life expectancy, and it said most children . . . pass away in their late teens, and I just started sobbing,” said Jennifer. “Who knew something like this existed?”
It’s a question the Kelly family has worked tirelessly to answer through education and advocacy.
“It’s accumulating in the brain and it really affects everything. Every part of what they do,” said Jennifer. “They slowly lose their ability to talk, their ability to walk, their ability to swallow.”
One in 70,000 children are diagnosed with the disease each year.
“But it’s one in 133 people that are carriers and that number is shocking to me for something you’ve never heard of,” said Jennifer.
Purple is the official color to raise awareness, and Jennifer and Brian are hopeful Senate Bill 276 will pass, which would declare November 16 as Sanfilippo Awareness Day in Ohio.
“We’re so hopeful of the progress that’s been made and there’s still so much to do,” said Jennifer. “We just want to be a part of that to carry the torch and to contribute to hopefully one day find a cure.”
To follow Oliver’s journey, visit this website.