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KDVS research has local ties

Austin Price's has Koolen-de Vries Syndrome, or KDVS, a rare disorder that went undiagnosed until his family discovered Mission's Fullerton Genetics Center. (Photo credit: WLOS staff)

"My name is Austin."

This talking iPad is Austin Price's new way to communicate.

He has Koolen-de Vries Syndrome, or KDVS, a rare disorder that went undiagnosed until his family discovered Mission's Fullerton Genetics Center.

"What if this place hadn't been here ... the genetics center?" asked the reporter.

"I think I'd still be looking for answers," replied Stephanie Needham, Austin's mom.

"So, Koolen-de Vries is a genetic condition that is caused by a change in a specific gene on Chromosome 17," explained genetic counselor Carolyn Wilson.

Stephanie added, "So, we started from there. We went to Facebook, and from Facebook we were able to meet the doctors who founded it.

"So, children with Koolen-de Vries typically have low muscle tone at birth, so you might notice trouble with feeding when they're young," said Wilson. "You might notice their facial features.

As they grow, you learn they have areas of developmental delays."

Two years ago, Austin's parents brought KDVS patients, family members and researchers to Western North Carolina to learn more about the condition.

That experience led to an alliance to help people impacted by the genetic condition, according to Austin's stepfather, Ted Needham.

"We allow families to apply for grants to get seizure dogs, to get hearing aids, augmentative devices for children to speak who are non-verbal."

... children like Austin, who can now communicate better than ever.

For more information, go to www.koolkidalliance.com.

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