Reporting Stephanie Stahl
PHILADELPHIA (CBS) – A special event is happening at zoo’s around the world this Sunday to help raise awareness about a little known and often misdiagnosed genetic syndrome.
You probably haven’t heard of something called 22q,. It’s almost as common as down syndrome, but experts say there’s an alarming lack of awareness, even among doctors. The event this Sunday aims to change that.
12-year-old Louis Cavana loves basketball, at quick glance you’d never know he’s had seven surgeries and gets a variety of therapies.
Louis has 22q deletion, a section of his chromosome’s are missing.
“He’s been really a trooper. It’s draining at times, but he’s always had an excellent outcome, which makes it better,” said Carol Cavana, Louis’ mother.
Louis and his family were lucky he was diagnosed early. But many children aren’t.
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Experts say many doctors don’t know about 22q, and don’t recognize some of the more subtle signs.
“We need to bring that awareness level up so doctors. All doctors in every field are looking at this, when a child comes in with several ear infections, his speech is a little off,” said Carol.
Other symptoms of 22q can include heart defects, cognitive and speech problems, and growth delays.
“The spectrum is so wide that, ya know, there’s a child mildly affected with a learning disability and a child affected with several organs,” said Carol.
Carol is helping to organize an event this Sunday, the first “22q At The Zoo Worldwide Awareness Day.”
“Everywhere around the world, everyone’s coming together to make this an amazing day,” said Carol.
The Philadelphia Zoo event will start at 11am this Sunday, and include special events like music, face painting and a scavenger hunt.
Reported by Stephanie Stahl, CBS 3