PHILADELPHIA (CBS) — A local family is looking to raise awareness about CASK, an incredibly rare genetic disorder that slows brain development. Fewer than 300 people around the world have been born with CASK.
Allie O’Donnell, a mother and member of Project CASK, is hoping to help fund research and provide treatment.
O’Donnell says her son 4-year-old son Graham was diagnosed as a baby. He went for an MRI after doctors noticed the size of his head was smaller than usual.
“It meant his brain wasn’t growing at the rate it should for his age,” O’Donnell said.
Doctors discovered Graham had a couple of brain abnormalities.
“He’s visually impaired, so he has something called cortical visual impairment. So his brain does not process what the eyes are taking in. That’s gotten a lot better with age,” O’Donnell said.
In addition, Graham, like 40% of individuals diagnosed with CASK, has epilepsy.
“Graham does not walk, he does not talk, he does not have a verbal language, but he communicates very well. He uses an iPad at school. He uses gestures,” O’Donnell said.
Project CASK is a parent-led nonprofit with a mission to accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders.
They are hosting a silent auction at Ultrararecollection.com where the community can bid on sculptures, illustrations and even puppets.
Rollie Krewson, the master puppet designer and builder at the Jim Henson Company, made a puppet featured in the auction.
She’s worked on every Henson production since being hired as an intern and working her way up – and Krewson also designed Julia, Sesame Street’s autistic muppet character.
“It’s an art auction with a twist, turning our kids’ greatest disadvantage – the rarity of CASK gene disorders – into an advantage that enables us to raise funds for research,” the organization said.
“We want to take our weakness, which is our rarity and turn it into a strength,” O’Donnell added.
Twenty-seven artists from all over the country created unique art, which was modeled after the group’s mascot, a “liocorn” – It’s a unicorn-lion hybrid.
Project CASK’s motto is “Our kids are rare as unicorns but strong as lions.”
The silent auction closes Sunday, Dec. 10.