Duke researchers give hope to families affected by Pompe disease

DURHAM, N.C. (WNCN) - It's a disorder known for killing babies before they turn one.

But a Durham middle schooler with Pompe disease is doing well thanks to a treatment developed by Duke researchers.

Dakota Bridges, 11, was born with infantile Pompe disease, a rare metabolic disorder in which babies are missing a key enzyme.

Untreated, it results in muscle weakness, severe damage to the heart, and death before a child's first birthday.

Dakota's mom, Deana Bridges David, learned about her son's potentially devastating disorder before he was born.

At the time, she already knew the effects of Pompe.

Her son Mason was born with the same disease in 2001.

"They just basically said take him home, love him," she recalled. "He was seven and a half months old when he passed away."

When she learned another baby would be born with the disease, she was heartbroken.

"I couldn't ask for anything better."

"I did not want to ever go through that again," she said, adding, "It was devastating to sit there and watch your child pass away and there's not really anything you can do about it."

By the time Dakota was born - there was hope.

The work of Dr. Priya Kishnani and other researchers at Duke Univeristy led to the development of a lifesaving enzyme replacement therapy - the first and only FDA approved treatment for Pompe.

"We have changed the natural history of this disease, so the infants are living longer. Our oldest is now 18 years old," said Kishnani.

Dakota started receiving enzyme therapy at Duke when he was just 10 days old.

Now the sixth grader gets tired easily, and sometimes uses a motorized wheelchair, but overall, his mom says he's just a normal kid.

Dakota will have to rely on the weekly enzyme therapy for the rest of his life, and Kishnani says there's still a lot of work to do for patients with Pompe.

But seeing children like Dakota proves her work has been worthwhile.

"It does give me goosebumps," she said. "It does give me a sense of realization of how fortunate I've been to be part of this journey."

"It was a blessing," added Bridges David of the treatment. "I couldn't ask for anything better."

Bridges David says she would like to see all newborns screened for Pompe because the treatment is more effective the earlier it begins.

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