Las Vegas baby diagnosed with rare genetic mutation
LAS VEGAS, Nev. (FOX5) - A mysterious illness has turned one local family’s life upside down. Their baby is fighting to survive after a rare diagnosis.
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 her head up.
“Her eyes just didn’t focus like a usual baby does at four months old,” Gentile shared.
That started months of testing. Doctors were stumped as to the diagnosis.
“Every test kept coming back normal, just a little bit off but something was obviously wrong,” recalled Gentile.
Things got worse, Isla was not 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.’ Took her to Summerlin Children’s Hospital where they took us very seriously and turns out she had a bladder infection that had turned to sepsis,” Gentile explained.
Doctors said something was also wrong with her brain.
“They life flighted us to Children’s Primary Hospital in Salt Lake City,” said Gentile.
A team of doctors came together to solve the mystery: 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 relayed.
The mitochondrial disease means Isla’s body cannot produce enough energy to function properly.
“She has regressed to almost like a newborn,” shared gentile.
Isla’s family, mom, dad Alejandro Ledesma, and 3-year-old sister Sage have dropped everything to focus on her care.
“It’s just flipped our lives completely upside down. This is our 21st day in the hospital,” said Gentile.
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.
As the family is temporarily living in Salt Lake City, the Las Vegas community has stepped in to help. A fundraising page has raised thousands so far to help with their bills.
“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,” said Gentile.
“It just makes you not feel alone in such a terrible time in your life,” added Ledesma.
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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