Orlando teen recovering from rare genetic disorder

Girl undergoes heart surgeries, therapy

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ORLANDO, Fla. – After four surgeries in two years, doctors call 14-year-old Sophia Maggio “one in a million.”

Three years ago, at age 11, Maggio was diagnosed with a rare genetic connective tissue disorder called Loeys-Dietz syndrome. 

Her doctors explained that this syndrome was only recently identified in 2005, and could affect the patient’s bones, blood vessels, skin and other major organs including the heart.

"As time went on, they just discovered that her aorta was just growing,” said Melissa Maggio, Sophia’s mother.

It took two surgeries to save the largest artery in her daughter’s heart from splitting in two. After the operations, Maggio would have to rebuild her strength for another operation to correct a curve in her spine.

"And by the time she came back to see us again it got very bad,” said Dr. Raymund Woo, medical director of pediatric orthopedic surgery at AdventHealth Children’s Hospital.

Maggio said while her daughter was working to recover from the heart surgeries, her lung collapsed several times. 

Sophia continued to fight, through one spinal surgery, and then a second.

"She actually was in a medically induced coma for about eight days, and that was the scariest time of our life,” Melissa Maggio said.

Sophia woke up and spent months in physical and occupational therapy, re-learning how to eat, walk and eventually swim.

"I think this is the biggest case that I've ever seen, and the best result because she's done so well,” Dr. Jorge Garcia, pediatric cardiologist for AdventHealth, said.

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Now, Sophia is back in school and recently attended a concert with her favorite singer, Shawn Mendes. 

She plans to study to become an occupational therapist.

"After getting used to where you are and the people that you're working with, it gets way more fun,” Sophia said.

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