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Pompe disease survivors return to Duke to connect with live-saving doctors

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10-year-old Yamila first came to Duke Medical Center at the age of 6 months for treatment of Pompe disease. (Justin Quesinberry, WNCN) 10-year-old Yamila first came to Duke Medical Center at the age of 6 months for treatment of Pompe disease. (Justin Quesinberry, WNCN)
DURHAM, N.C. -

It's the subject of a book and a movie, but in real life, the search for treatment of Pompe disease is centered at Duke Medicine.

Survivors of the disease, which is caused by an enzyme deficiency and disables the heart and skeletal muscles, are gathering for a reunion this weekend in Durham.

One of them, 10-year-old Yamila, first came to Duke Medical Center at the age of 6 months. Her family moved to North Carolina from Peru for the clinical trials at Duke. 

"It was the only chance to save her life," said Yamila's father, Jorge Romero.

The FDA approved the treatment in 2006.

"If you provide this missing enzyme, you can help these individuals with Pompe disease. It's similar to providing insulin to someone with diabetes," explained Dr. Priya Kishnani, Duke professor of pediatrics and division chief of medical genetics at Duke University Medical Center.

The reunion is a chance for Yamila to connect with those who helped save her life, including Kishnani.

"I think this is a gift of life for Yamila and also a humbling experience for myself as a physician to actually see her here nine and a half years later and still doing well," Kishnani said.

It's also a chance for the families of Pompe disease to connect.

"We learn from the other families, their experience, because we're a small group," Romero said. The disease affects about one in every 40,000 births.

Pompe disease received attention in 2010 from the Harrison Ford movie "Extraordinary Measures," which is about the search for treatment.

"In many ways it was the story of what started at Duke many, many years ago," Kishnani said.

The movie did not include Duke's role, though the book it's based on did, Kishnani said. Still, Hollywood's interpretation is helping others, she said.

"This movie definitely did highlight the signs and symptoms of this disease, allowing more exposure and thus potentially allowing more cases to be diagnosed," Kishnani said.

Kishnani points out that it is just a treatment and not a cure at this point. Proof of that is seen in Yamila, who is not able to walk around freely and relies on the aid braces and a wheelchair. She has made progress, though, and attends public school in Virginia.

While more research is needed to find a cure, which could include gene therapy at some point, families like the Romeros are happy with the progress.

"We are happy with all that she does every day, even though we have hard times because we don't know how long she's going to go because she's one of the kids," he said.

About 20 families are in Durham this weekend for the reunion.

Doctors at Duke treat about 100 patients with Pompe disease and manage the cases of up to about 300 others.

Justin Quesinberry

Justin is a reporter for WNCN and a North Carolina native. He has spent the better part of the last decade covering the news in central North Carolina.  More>>

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