Baby diagnosed with rare genetic mutation with no cure or treatment

Published: Aug. 9, 2022 at 1:58 PM CDT
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LAS VEGAS (KVVU/Gray News) – A baby in Las Vegas is fighting to survive after a mysterious illness turned her family’s life upside down.

Josette Gentile told FOX5 her daughter, Isla, was a dream baby for the first few months of her life, but she became concerned when the infant wasn’t able to hold up her head.

“Her eyes just didn’t focus like a usual baby does at four months old,” Gentile said.

That started months of testing, but Gentile said everything kept coming back normal. Doctors were stumped as to the diagnosis.

Things got worse and Isla stopped eating and had no energy.

“I took her to the ER. They did a bunch of tests and said everything was normal. Sent us home again and two days later I’m like, ‘I don’t care what that doctor said, I know something is wrong with my baby,’” Gentile said.

She took Isla to Summerlin Children’s Hospital where doctors said she had a bladder infection that had turned to sepsis and explained something was also wrong with her brain.

They were life-flighted to Children’s Primary Hospital in Salt Lake City, where a team of doctors solved the mystery of what was making Isla so sick.

“One of her genes has two mutations. It’s her FDXR gene. Only 35 people in the world have this mutation. Her specific mutation, the location in the gene and everything, she is the only one in the world known to have it,” Gentile explained.

The mitochondrial disease means Isla’s body cannot produce enough energy to function properly. Gentile said her daughter has regressed to almost like a newborn.

“It’s just flipped our lives completely upside down. This is our 21st day in the hospital,” Gentile said.

There is no cure and no treatment. Doctors put Isla on a regimen of vitamins in hopes of boosting her energy.

“What that is going to do is just make her more comfortable,” her mother explained.

The disease will continue to get worse until Isla’s body can no longer handle it. The family plans to come back to Vegas if and when Isla is stable enough to travel.

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