Health Beat

Health Beat: Back on her feet after 5 surgeries

CHAPEL HILL, N.C. - Elizabeth Davis never thought one day she would be able to play catch with her dog, Molly.

"At six years old, I started walking on my toes, and that's where it started," Davis said.

By age 14, Davis needed crutches to get around. She had five surgeries on her feet, but nothing worked.

"I didn't go to the movies. I didn't go to the mall," she said. "No, I missed out on a lot."

And worse, no one could tell her what was wrong, until she met Dr. Jim Evans, a geneticist at UNC Chapel Hill.

"That's what we were really interested in doing; to figure out how we can use this technology to benefit patients," Evans said.

UNC researchers analyzed the genomes of more than 600 patients who most likely had a genetic disease, but never received a diagnosis like Davis'.

"The results exceeded our expectations," Evans said.

After 30 years, Davis finally got her diagnosis.

"Dopa-responsive dystonia," Davis said. "Well, my life changed after that. That's it. My life changed."

Three days after Davis was put on a medication to treat the disorder that causes involuntary muscle contractions, something amazing happened.

"All of a sudden, I felt my toes, and I can move them. I moved them," Davis explained.

"She can now walk without crutches. It's the kind of moment you spend a whole career in research hoping to see," Evans said.

Evans said with more genetic research, this is a sign of things to come.

"It's changed my life, and how I feel, terrific," Davis continued.

It's giving hope to those still looking for an answer.

UNC Chapel Hill is now conducting phase-two of the study, thanks to a grant from the National Institutes of Health. If patients think they have a disease that is genetic and want to get involved in the research, visit the American College of Medical Genetics and Genomics' website.

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