A California family is holding on to hope that their baby son can beat an extremely rare disease threatening to claim his life.
In March, 7-month-old JT Borofka was diagnosed with Triosephosphate Isomerase Deficiency, a genetic disorder that causes complications such as respiratory and heart failure. On their website, parents Tara and Jason Borofk said doctors expect their son may only have a few years to live.
The disorder is so uncommon that less than a few dozen cases have ever been reported, according to the U.S. National Library of Medicine, and JT may be the only person alive in the world who has it, the couple said.
“We believe, and the doctors believe, that he’s the first person to be detected with this very rare disease before the neurological and major symptoms start,” Jason Borofk, of Salinas, California, told KSBW. “Our doctors at Stanford and their team are scrambling to come up with a cure or some type of treatment for our son.”
Because modern medicine still has not come up with a way to treat the disorder, JT’s prognosis is grim.
“The doctors gave him two to five years to live, and he said it going to be very tough on us and that it was going to be horrible,” Borofk told the news station. “We cried for a solid week for sure, but now we’re holding on tight, and we’re going to try and beat this.”
To make matters worse, JT was also diagnosed with Hemolytic Anemia, which causes the destruction of red blood cells faster than they can be replaced, according to Johns Hopkins Medicine. JT must get repeated blood transfusions and will likely be left with neurological damage as the disease progresses.
As KSBW reported, the young boy will be starting an experimental Ketogenic diet later this month at Stanford Hospital, and doctors will monitor his iron and oxygen levels for any improvement.
JT visits the hospital in Stanford every week to get his blood drawn, which has been a difficult ordeal for him and for his parents.
“The struggle is how many times he has to get his blood drawn, there isn’t a parent out there that can stand watching their kid getting his blood drawn,” Borofk said.
To help with their rising medical costs, Borofk and Tara started a GoFundMe page that has raised $35,000 of their $150,000 goal since it was opened in March.
“He has this contagious smile that will melt your heart, and his favorite foods are bananas and sweet potatoes,” the donation page’s description says of JT.
“We think he’s got a tough personality too because he hardly fussed when his two bottom teeth came in last month. He’s also mastered rolling over, throwing things on the floor and is learning how to sit up now.”
The family hopes they will be able to raise enough funds to find a treatment or a cure for the deadly disease and save their son, or possibly the life of someone else.
“It’s more important that we’re building awareness especially around our little community and we’re really building a team,” Borofk told KSBW. “Awareness is almost more important than raising all the money.”
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