'Miracle baby' improving thanks to last-minute treatment effort

ByLucy Collins via WTVD logo
Friday, July 1, 2022
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"We are indebted to Duke University for life," baby Stevie's father said. Stevie Kestner was diagnosed with Biotin-thiamine-responsive basal ganglia disease, a condition that only affects a reported 50 people worldwide.

CARY, N.C. (WTVD) -- At 11 weeks old Stevie Kestner was diagnosed with Biotin-thiamine-responsive basal ganglia disease, a rare condition that only affects a reported 50 people in the world.

Before being diagnosed with her current condition, doctors believed it was more likely that the baby had Leigh's disease.

"We don't know that she'll make it past her first birthday and she'll probably never crawl, she'll be on a feeding tube, she already wasn't eating, she lost her ability to suck, she lost her neck strength, she couldn't even lift her head up. She was going downhill really really fast." said Angie Kestner, recalling doctors' words and Stevie's subsequent symptoms after receiving the initial diagnosis.

To cover their bases, doctors also began treating Stevie for Biotin-thiamine-responsive basal ganglia disease, because it tends to present similarly to Leigh's disease. Unlike Leigh's disease, Biotin-thiamine-responsive basal ganglia disease can be treated with vitamins. This gave the family hope.

"She wasn't as irritable and then the next day her jaw stopped and we were just kind of taking it day by day. She slowly started to regain some stuff and her happiness, and our daughter came back," said Andrew Kestner as he recalled Stevie and her response to treatment.

After the treatment proved effective and Stevie began to get better, it was confirmed via genetic testing that she indeed had Biotin-thiamine-responsive basal ganglia disease. Stevie's parents believe that Stevie's condition isn't as rare as it is thought to be and want to spread the word about her disease to help other parents who might find their children have similar symptoms.

"We are indebted to Duke University for life and for saving our daughter, but we're also indebted to society to share her story because I sincerely feel like a lot of this gets chalked up as something else," said Andrew Kestner.

Stevie's family have consented to her case being recorded in medical journals so that they can help present and future sufferers of the disease.