Close
Close
People News

Chippewa golf outing to benefit those with rare genetic disease

4.0
4.0 from 1 vote
Friday, July 14, 2017

When Josh Shoup was in elementary school, his mother noticed bumps that developed on his face.

It took years before doctors realized the bumps were small tumors, and he was subsequently diagnosed with tuberous sclerosis complex by the time he was 10.

He later learned he also has tumors in his brain, his right eye, his kidneys and his liver. Many who have the disease have various effects from the tumors, such as physical or developmental delays, seizures or autism.

"I got very, very lucky that I don't have any of those," said Shoup, now 20, who's an Ambridge Area High School graduate and is now studying aerospace engineering at Penn State's Schreyer Honors College.

But for several years now, the Economy native and his family have advocated for others with TSC.

According to the Tuberous Sclerosis Alliance, it's a genetic disease causing tumors in several organs that can be either passed on from parent to child or contracted through a spontaneous gene mutation. Roughly 1 in 6,000 people are estimated to have the disease, although many aren't diagnosed because of the mild form the disease may take in some people.

His mother Lori Shoup recalled him saying he wanted to help after attending a conference about the disease and seeing the impacts TSC had on other children.

"You know what, mom?" she said, recalling the conversation they had in the car many years ago. "I need to talk for those who can't. And it broke my heart... Let's be the advocates for those who can't do it. And he has never stopped talking about it since.

"We are very, very blessed that he's gotten little to deal with, but he does read ahead. He knows what the future could hold, because these can keep growing."

There is no cure for the disease, but with the 9th annual golf outing on Saturday at the Black Hawk Golf Course, they hope to raise money to find a cure through the Tuberous Sclerosis Alliance.

Josh Shoup's uncle had the idea to begin the golf outing event, and the Shoup's have helped with organizing it ever since.

He thinks about his future, too, but takes it in stride.

"My children have a 50 percent chance of having it, and it gets worse with every generation," he said.

Registration at the golf outing begins at 1 p.m. with a 2 p.m. shotgun start, followed by a post-event dinner. Cost is $80 per golfer for each four-person team.

For more information or to register, call 724-987-8505 or email landsshoup@yahoo.com.

Author: Kate Malongowski
Source: The Times
4.0
4.0 from 1 vote
Free Newsletter
Videos