Children’s Hospital of Georgia uses genetic work to care for patients

Published: May. 22, 2023 at 6:34 PM EDT
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AUGUSTA, Ga. (WRDW/WAGT) - The demand for geneticists is on the rise.

Some medical care providers specialize in diagnosing and treating genetic disorders. Back in 2019, there were only around 1,200 working in the field.

The Children’s Hospital of Georgia provides complex care for all kids. They have a new member on the team focusing on these rare diseases.

Kristin Abbott calls little Alice a miracle child.

“Alice was diagnosed with polar 3b related luca dystrophy,” said Kristin.

She’s one of 120 in the entire world who’ve had this disease and she’s the only one in the world with her specific mutation.

“It makes it a little hard to find resources and know what exactly to expect,” said Kristin.

That’s where Augusta University’s geneticist program comes in to help families like the Abbotts.

“Within 45 minutes he did more than anyone has done with more than 3 years of her life,” she said.

Dr. Faizal Asumda joined CHOG and MCG after going years without this position.

“We’re definitely helping to save lives,” said Asumda.

His job is to find out what diseases or health conditions unborn and newborn babies may have.

“You’re seeing some of the most complex, rare conditions on the earth basically,” said Asumda.

He works, teaches, and tests families about the warning signs later down the road.

“We coordinate multiple specialties to basically manage that child or that baby over their entire lifespan,” he said.

The Abbotts see him every six to 12 months in hopes of helping Alice live a happy life.

Kristin said: “We’re not going to go down without a fight.”

Alice’s condition is extremely rare.

There is no treatment for it, and it’s considered terminal.

MCG and the children’s hospital are doing what they can to search for answers.