1-Year-Old With Rare Disease Gets New Hope, Despite No Existing Treatment or Cure

JT Borofka, 1, and his family tracked down the one doctor that has been doing research on the rare condition over the years.

A 1-year-old with a rare disease is getting new hope of living a long and thriving life, thanks to the one doctor that may just be able to find a treatment for his condition.

JT Borofka, a young boy from California, is just like any other 1-year-old.

“JT’s normally a happy go lucky little boy,” his mom, Tara Borofka, told InsideEdition.com. “He loves to go outside, he loves sitting in the boat with dad. He’s a good kid. He just loves to play and explore everything. He’s perfect.”

He also has triosephosphate isomerase (TPI) deficiency, a rare gene mutilation that if left untreated can cause muscle loss and brain damage.

Unfortunately, the disease has no known treatment or cure, and doctors are not even sure he’ll live beyond childhood.

“It’s a complicated disease because for right now, there’s no literature, there’s no study of the disease. It’s that rare,” his dad, Justin Borofka, said. “Pretty much everything out there is on written paper.”

They explained that both Justin and Tara had to have had the gene mutation to pass it along to their son, and the disease is so rare that there have been less than 70 reported cases in the world.

Thankfully, they had a chance to meet with the one doctor in the world known to be a specialist of the disease, Dr. Michael Palladino of the University of Pittsburgh School of Medicine, who has been studying the mysterious illness for the last 16 years.

“The ideal outcome would be for them to find a treatment that can prolong the neurological symptoms enough for them to find a cure,” Justin said. “Worst case scenario … we don’t even want to think about that.”

Now it’s a race against time to raise money to go toward Palladino’s research.

“There is a time frame on this and I hate saying it, but we’re going to run out of time,” Justin said. “Eventually, these neurological symptoms are going to come along and I can’t imagine that happening to our son and it being too late.”

To support their family in finding a treatment or cure, visit their GoFundMe page.