Baby Girl Is The 'Only One In The World' Born With Rare Genetic Mutation

By Bill Galluccio

August 10, 2022

Newborn Baby In Neonatal Intensive Care Unit (NICU)
Photo: Getty Images

A baby girl born in Las Vegas was diagnosed with a rare genetic mutation with no treatment or cure. Josette Gentile told KVVU that her daughter Isla is the only person in the world known to have a specific mutation to her FDXR gene.

"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," she said.

As a result of the mutation, Isla suffers from a mitochondrial disease that prevents her body from producing enough energy to properly function.

Gentile said that it took several months after Isla was born for doctors to figure out what was wrong.

"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 explained.

She then took Isla to another hospital, where they diagnosed her with a bladder infection that had turned into sepsis. Isla was flown to Children's Primary Hospital in Salt Lake City, Utah, where doctors discovered the genetic mutation causing her health issues.

Gentile said that doctors are giving Isla vitamins in hopes of boosting her energy, but they don't know if it will help since there is no treatment or cure. Isla's condition is expected to worsen, and Gentile said her family will stay in Utah as long as necessary.

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

"It has taken honestly a lot of stress off of us, so we only have to worry about being here and keep her here as comfortably as we can," Gentile added.

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