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Parents and Physicians Team Up to give Tiny Duke Patient a Chance at Recovery from an Extremely Rare Condition.

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Sarah Avery
Sarah Avery
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Angie and Andrew Kestner were happy new parents earlier this year. Their beloved daughter, Stevie, was growing as expected until her 11th week put everything in doubt.

“February 8th, Stevie became inconsolable”, Angie recalled. The Kestners rushed her to an area emergency department because of her extreme bouts of crying and vomiting. “This was a sudden change in her demeanor,” Angie said. “We had a baby that did not cry.”

After examination, it appeared Stevie was colicky and maybe had gas. The Kestners went home with instructions to monitor her for any change in conditions. “This might be the most expensive gas bill we’ve ever had,” Andrew joked.

The very next day, however, conditions changed. “We noticed odd eye behavior and read up about a condition called ‘sunsetting eyes’ which results from hydrocephalus liquid developing on her brain,” Angie said. She called her husband, and they rushed Stevie to the emergency department at Duke University Hospital.

A battery of tests put the family on the road to a diagnosis. Doctors homed in on her ‘downward gaze’ symptoms, like the sunsetting eye syndrome the family read about. And now a pediatric neurology team lead by Drs. Kayli Maney, Carolyn Pizoli and Jeffrey Russ started to review test results.

Our Week of Hell

The Kestners felt they were losing their happy little baby. Over the next week, Stevie’s discomfort increased to the point where she’d cry for 13 hours a day interrupted only briefly for meals. This behavior culminated in what looked to the family like seizures.

“I was able to video one episode and show Dr. Pizoli the video in real time,” Angie said. “She told us to pack a bag and bring her back to Duke.” Stevie was admitted to Duke Children’s where she quickly regressed, showing involuntary head and body movements, loss of muscle tone and severe irritability.

Dr. Pizoli said the family’s record keeping and persistence helped with Stevie’s care.

“What gave us pause was one abnormal lab value and the parents’ consistent history that her behavior was abnormal,” Pizoli said. “In the next days, her behavior continued to change, and our gut feeling was with the parents, who knew a scary change was occurring.”

After tests and observations, the Duke care team presented the Kestners with a couple of diagnosis possibilities. Both had potentially devastating prognoses. One was a metabolic condition called Leigh’s Syndrome, which has few treatment options and would limit Stevie’s life to between a matter of months to just a few years. The other was an extremely rare genetic condition called Biotin Thiamine Responsive Basal Ganglia Disease. Only a few hundred patients of all ages had been identified in the world. If this was Stevie’s diagnosis, she’d be among just a few dozen infants with the condition.

Testing for confirmation could take weeks.

One in a Million

“They started her on vitamins right away with the off chance it’s the extremely rare condition,” Angie said. “We were watching our two-month-old baby regress right in front of our eyes. We were so worried we’d lose her before her first birthday.” Instead, Stevie slowly started responding.

“We were told this is a one-in-a-million condition. Medical journal-type stuff,” Andrew said. “But now, little by little, Stevie was improving.” Angie and Andrew noticed Stevie was sucking her bottle better and she was less irritable.

“We started early with supplementation,” Russ said, noting that the medical team is preparing a paper about Stevie’s case for publication in a medical journal later this year. “We were relieved when the genetic testing came back positive for Biotin Thiamine Responsive Basal Ganglia Disease, since it meant she might have a chance at a better prognosis than we had initially thought.”

Stevie’s Duke care team and her parents remain vigilant about her treatments. And physicians credit the Kestner’s advocacy and their colleagues -- neurologists, pediatricians, nurses -- for the roles they played to put Stevie on the path to improvement.

“Stevie's parents were able to provide a clear, objective history,” Pizoli said.

Russ agreed: “They took the time to understand all the details of Stevie's care, and they asked thoughtful, important, and sometimes challenging, questions that helped us move her care forward thoroughly and efficiently.”

Angie and Andrew expect their daughter to be on the biotin and thiamine for the rest of her life.  They also shared a lesson they learned. “Time is of the essence. Keep asking until you get answers.”

And they have a message for Stevie’s care team: “THANK YOU DUKE! We’re grateful to be surrounded by the best health care.”

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