A 3-year-old girl was the first to receive a liver transplant to treat an extremely rare metabolic disease that has been diagnosed in only eight people.
Donya McCoy’s daughter, Kennedy, received the transplant on Tuesday after months of waiting and being turned down by several doctors, according to Yahoo! News.
McCoy was alerted to her daughter’s condition after she had a seizure at just 8 months old.
A doctor near where McCoy lives in Elizabethtown, Penn., did an MRI on the girl and was stumped.
“He came out to talk to us and told us the white matter in her brain looked like nothing he’d ever seen before,” said McCoy.
After several doctors turned her down for treatment, since it was unclear what Kennedy was suffering from, a retired 86-year-old metabolic specialist named Dr. S. Harvey Mudd decided to come out of retirement to lend his knowledge.
He diagnosed Kennedy with a rare metabolic disorder called S-adenosylhomocysteine hydrolase deficiency — a condition that only eight people have been identified as having. Just six of those are alive today, according to Yahoo! News.
The agonizing wait continued when Mudd died 11 months later. At his memorial, McCoy begged Kevin Strauss, the medical director of the Clinic for Special Children, to take over for Mudd and treat her daughter. He said yes.
“He made her a priority and within a month, he figured out that a liver transplant was her best shot at survival,” McCoy said. “So she’s the first in the world to have a liver transplant for her disease.”
Kennedy received the life-saving transplant from her mother’s high school classmate, Michael Thompson.
“A guy I went to high school with messaged me and said, ‘I have O positive blood,'” McCoy recalled.
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