Baby Diagnosed With Extremely Rare Genetic Condition That Has No Cure
JENNIFER POLIXENNI BRANKIN/GETTY IMAGES
A baby girl who had difficulties keeping her head had a diagnosis that is extremely rare and incurable.
Fox 5 News interviewed Las Vegas mother Josette Gentile about her daughter Isla’s problems. The newborn was perfect for the first few months of her life and didn’t show any symptoms of struggle.
Isla’s inability to hold her head up like a baby her age should have been able to raise questions, though. Gentile then started to see further signs that her daughter might not be acting fully normal.
“Her eyes just didn’t focus as a usual baby does at 4 months old,” Gentile explained to Fox 5.
A very rare disorder with no known treatment has been found in a baby girl in Las Vegas, Nevada.
In an attempt to find answers, Gentile started taking Isla to the doctor. Nothing seemed to be clearly wrong with the child, as far as the doctors could tell, after months of testing and hope. Isla’s condition didn’t improve despite this; she started to have problems eating and had less energy than ever before.
“Every test kept coming back normal, just a little bit off but something was obviously wrong,” Gentile continued. “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 and her daughter were then sent to the Children’s Primary Hospital in Salt Lake City, which was situated more than 400 miles away. There, a team of medical practitioners focused their efforts on assessing Isla’s health. The problem was finally identified as a rare combination of gene mutations in the infant.
“One of her genes has two mutations,” Gentile explained to Fox 5. “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.”
The mitochondrial disease caused by the genetic disorder prevents Isla’s body from producing enough energy. Since there are no known treatments or cures for the condition, doctors are only able to provide a vitamin regimen in the hopes that the child would get better, Fox 5 stated. If her condition does not get better, the disease can get so bad that her body can no longer handle it.
The family stated on a GoFundMe page created to help with medical costs that doctors are looking into the possibility of treating with hormone replacement therapy. Of its $100,000 goal, it had raised more than $43,000 as of Tuesday.
