The family of a child whose doctors said he had between two and five years to live has defeated the odds and recently celebrated his fifth birthday. At 6 months old, Jason and Tara Borofka's only child, JT, was diagnosed with triosephosphate isomerase, or TPI, deficiency, a rare condition that causes insufficient red blood cell production, which can lead to a host of problems, including respiratory and heart issues. Five years later, JT is still here and strong.
His family celebrated the milestone in a big way with a Texas BBQ and a 100-guest party hosted by the Make-A-Wish Foundation. The Borofka family is taking advantage of every moment with JT as he continues to defy the odds.
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At birth, everything seemed fine.
The Borofkas, who live in Salinas, California, sat down with the Epoch Times to share more of JT's story. The couple explained that Tara Borofka's pregnancy was normal and that JT appeared healthy at birth. But at his 2-month checkup, his doctor voiced concerns. The family went to Stanford Children's Hospital, where bloodwork showed low levels of hemoglobin that required an emergency blood transfusion.
"It's extremely rare," Jason Borofka said. "At the beginning … we really didn't have anywhere to look. We only had what our doctors at Stanford said, and then, luckily, there was one researcher in the world researching at the University of Pittsburgh."
Doctors initially shared a grim outlook with JT's parents.
Jason Borofka told the Epoch Times the news that his son wasn't well was heartbreaking.
"He said, basically, 'Just go home, hug your kid. He's got two years, maybe five if advanced technology can keep him alive,' It was devastating. We cried for like, a week straight," he explained. "We had all these hopes and dreams and plans. I want to play baseball with him, we want to go fishing with him … he's having fun, and all your family's excited, then all of a sudden it just hits you."
Only 60 known patients suffer from TPI worldwide, and the condition is terminal.
The illness progressed quickly.
Sadly, TPI took over JT's body fast, and within six weeks of diagnosis, his parents said everything changed. When he turned 18 months old, his parents hired an at-home nurse to help for eight hours a day.
"In the beginning, I struggled as a mom, just trying to do everything, and you can't," Tara Borofka said. "I had to learn to let other people do things."
The Borofkas are sharing their story to spread awareness of rare diseases.
Jason Borofka started a TikTok account, @save_jt, where he shares updates on his son and what their family is up to. The community continues to shower the family with love and support. So far, a GoFundMe page has raised more than $135,000 toward a goal of $250,000.
With those funds, the Borofkas told Epoch Times they hired 24-hour nursing support and now go on date nights and spend more time together.
"We still get random emails and text messages, like, 'Oh, I just learned about your son, and we're sending prayers,' or, 'Oh my gosh, he's the cutest! We pray for a cure.' All the time people are reaching out," Tara Borofka said.
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The couple has a message of hope for other families.
Although a rare medical diagnosis can be frightening, the Borofkas want other parents to keep their faith.
"Never give up, even if the doctor says, 'That's it'… You just never stop believing miracles will happen. If I could change … he wouldn't be sick. But as I look back, definitely, for me, I don't think I would change anything," Jason Borofka told Epoch Times. "I know that my wife and I have gotten stronger, and we've learned a lot about ourselves and also learned a lot about people in general. … There is a lot of really good stuff in the world, and we see it every day with our son, friends, and loved ones."
JT’s condition is managed with a myriad of therapies, vitamins, and a special diet. It has all helped him remain healthy.
