BUENA VISTA, Va. (WDBJ7) It’s World Rare Disease Day, set aside to raise awareness and help fund research into curing rare diseases – diseases so rare that only a handful of people worldwide might have them.
One such person is a seven-year-old in Buena Vista, Brayden Chittum.
“We have cards made up with Brayden’s picture on it and the diagnosis on the back that explains what it is," says Brayden's Dad, Randy Chittum. "When we go to some of the doctors, we hand it to them, because they have no idea what we’re talking about.”
Brayden’s one of only 100 people worldwide with KIF1A, a degenerative neurological disease caused by a gene mutation. Right now, it shows itself by putting him on the autism spectrum, with some developmental difficulties, but every case is unique.
“You never know," says his Mom, Carrie Chittum. "I mean, he could wake up one day and not be able to walk. We just don’t know. We just don’t know.”
Which is why the family is taking part in today’s World Rare Disease Day efforts with T-shirts, ribbons, and fundraising efforts. They hope that, with some help, researchers will be able to better understand KIF1A and figure out a cure.
“When he was diagnosed in July of last year, there were only 30 kids," Carrie Chittum explains. "And like I say, the only way you can be diagnosed with KIF1A gene disorder is with genetic testing. And unfortunately a lot of insurance companies don’t cover genetic testing.”
“What happens is, you know, you want your kid to grow up and be a doctor or a lawyer," Randy Chittum says. "Now you just want your kid to survive. So, it’s different. Life Changing.”
But a life they make the best of, going to therapy and working with researchers and support groups, hoping that one day this family scene will be just as average as it looks.
“Every day’s a good day,” Dad says, leaning over to pat Brayden's leg.
You can contribute to help cure KIF1A -- and learn more about the disease -- at: https://www.givegab.com/campaigns/help-us-find-a-cure-for-kif1a