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Support Isla's Fight for her Life

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For those who are close to Josette and Alejandro, know the difficulties, every parents nightmare, they have been experiencing for the past six months. For those who are unaware, they are in need of our help in whatever way you can provide.

Josette and Alejandro welcomed Isla, their second baby girl, on September 11, 2021. Isla was a dream--rarely crying, eating a bunch, and sleeping well. Just before Isla was six-months-old, they noticed Isla was not holding up her head nor tracking objects with her eyes. The doctors also began to notice that her head and body weight were no longer growing as they should.

The doctors in Las Vegas ran dozens of tests and they could not figure out what was going on with Isla. After several hospital stays, dozens of tests, and false diagnoses for Isla and her family, Isla was becoming weaker & weaker.

On July 16, Isla was readmitted to the hospital with a bladder infection that had progressed to sepsis. This resulted in Isla experiencing multiple strokes. She was in a lot of pain, extremely weak, and refused to eat. After an EEG, MRI, and spinal tap, the family was flown in an emergency Life Flight from Las Vegas to the Primary Children’s Hospital in Salt Lake City.

Josette and Alejandro then received the diagnosis that they had been dreading: Isla was diagnosed with 2 FDXR mutations in her DNA. This mutation affects the mitochondria, responsible for creating a cell’s energy. This means that when Isla gets sick, she gets very, very sick, because her cells are too weak to fight the infection. Her vision is also damaged and she will likely lose her hearing eventually. Only 35 people in the world are known to have this specific mutation, and there is very limited information on the disorder.

Since then, Isla has stopped eating entirely and is only tube-fed. She has lost most of her muscle tone, can no longer hold her head up, and will likely never be able to again. She is on 24-hour pain medication but is still noticeably in pain. This disease is progressive & painful and will continue getting worse until Isla’s body can no longer handle it. The doctors’ only option is to give her vitamins and keep her comfortable.

The family will need to travel to Salt Lake City every couple of months to follow up with the team of specialty doctors. On top of being away from their three-year-old daughter throughout this trial and trying to cope with the news that no parent should ever have to, the family is forced to bear this financial burden as well. Please keep Isla, her parents and her big sister in your thoughts and prayers.

For those interested in donating via Venmo please search @Josette-Gentile

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Organizer and beneficiary

Zandria Fata
Organizer
Hollister, CA
Josette Gentile
Beneficiary

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