NEW STANTON, Pa. — A local family has a medical story that’s truly one of a kind.
All four of their children were diagnosed with the same rare genetic disease; it’s so uncommon it’s only found in a couple hundred people across the country.
“I feel blessed that I have the four most wonderful children in the entire world," said Addison Johnson, of Greensburg. "He was diagnosed with ataxia-telangiectasia when he was 2 1/2. At that time we were actually pregnant and we thought we were having 1 and ended up being pregnant with triplets.”
Ayden, Riley, Peyton and Alivia — were all diagnosed with A-T, a rare degenerative disease that affects multiple body systems.
“Crazy part about it is there 1 in 2.5 million chance that me and my husband got together and the way this genetic disease works is that it’s supposed to affect only 1 of 4 kids from a couple who have the same mutation in their genes," Johnson said.
The Johnsons are the only family in the world who have 4 out of 4 kids diagnosed with A-T. But last summer, their little Alivia passed away from cancer. Kids with A-T have a 20% higher chance of having cancer.
“That’s why it’s so important for us because A-T being so rare we don’t get any federal grants or anything to come up with a cure," Johnson said.
Families like the Johnson’s rely on grassroots fundraising for research.
That’s why they’re gearing up for a benefit this Saturday at New Stanton fire hall to work toward a cure and a prolonged life.
“It’s like my kids are just as important to them as they are to me which is something that’s really cool because it’s hard to find people like that and we’ve seem to have gotten the jackpot with our community and where we live and the amount of support we do have,” Johnson said.
The benefit will run from 6 p.m. to 10 p.m. this Saturday at New Stanton fire hall.
All of that money raised goes to the A-T Children’s project. So far, the Johnson’s have raised $100,000 over the last eight years with these dinners.
Insurance doesn’t cover any treatments.
Kids affected with the disease are missing the ATM gene.
Right now, there’s a new study being done now with a child to get that ATM gene.
The price tag is $1.4 million to do that treatment on one child.
Cox Media Group