Woman back on her feet after five surgeries

CHAPEL HILL, N.C. – Call it a medical mystery solved by science. 

Years after one woman lost the ability to walk, cutting-edge research helped her get back on her feet and put down her crutches for good. 

Elizabeth Davis never thought that 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. No, I missed out on a lot," Davis said.

And worse, no one could tell her what was wrong. Until she met Jim Evans, a geneticist at the University of North Carolina.

"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. Well, my life changed after that. That's it, my life changed," she said.

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," she said.

"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 said. 

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, please visit the American College of Medical Genetics and Genomics at acmg.org or med.unc.edu.