A little boy diagnosed with an extremely rare genetic disorder at 5 months old has defied the odds by turning 5 years old and is now thriving at his home in Texas.
Jason and Tara Borofka of Salinas, California, welcomed their only child, JT, on Sept. 13, 2018. Five years later, the couple had a huge birthday party in their new hometown of Lavon, Texas, to celebrate their son turning 5—a day they feared they'd never see.
JT suffers from triosephosphate isomerase (TPI) deficiency, which is a shortage of red blood cells. The condition can cause movement problems, increased susceptibility to infection, and muscle weakness that can lead to breathing issues and heart failure. Doctors gave him only two to five years to live.
“He had a big, giant party that was hosted by Make-A-Wish Foundation,” Ms. Borofka, 40, told The Epoch Times. “We had all the love. The city police were there, and fire trucks were there, and it was a fishing theme.”
The party was attended by 100 people. A local Texas barbecue chain called Soulman’s Bar-B-Que was also a part of the celebration.
“[JT] got to be an official fireman, an official barbecue master, and an official police officer,” Mr. Borofka said. “It was pretty cool.”
A professional fisherman and an insurance underwriter, JT’s parents have passed on their love of the outdoors. All the kids at JT’s party received tackle boxes and fishing poles since it was JT’s wish to “share with other kids and let them have a fun fishing day.”
Ms. Borofka had an “easy” pregnancy and JT was born healthy. However, at his two-month checkup, JT’s doctor noticed the baby was pale, and after noting low iron levels the doctor referred the family to Stanford Children’s Hospital. Three days later, they checked his blood and his hemoglobin level and found it very low. JT was then rushed for an emergency blood transfusion. Three months later, he was officially diagnosed with TPI deficiency.
“It’s extremely rare,” Mr. 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.”
There are only 60 patients with TPI deficiency ever recorded. Stanford hematologist, Dr. Berto Plater, told the Borofkas there was sadly no cure and nothing to be done.
“He said, basically, ‘Just go home, hug your kid. He’s got two years, maybe five if advanced technology can keep him alive,’” Mr. Borofka said. “It was devastating. We cried for like, a week straight. ... 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.”
The symptoms of TPI deficiency “took over” JT’s body within six weeks of his diagnosis. He went from sitting unassisted, crawling, playing, laughing, and learning how to talk, to breathing and eating through a tube, virtually paralyzed by extreme muscle weakness. When JT turned 18 months old, his parents hired an in-home nurse to help eight hours per day.
“In the beginning I struggled as a mom, just trying to do everything, and you can’t,” Ms. Borofka said. “I had to learn to let other people do things.”
Today, JT’s condition is managed through physical, occupational, and speech therapies; a compound of vitamins; and a low-sugar keto diet.
“Within the last two years, he’s been able to come off the ventilator. ... He’s off for pretty much half the day,” Mr. Borofka told The Epoch Times. “His speech therapist had to teach him how to eat first before she could teach him how to communicate.
“He’s making some strides and some miracles are happening. The doctors now believe that we’re actually getting a test done soon ... one side of his diaphragm they said was completely paralyzed. [Now] they’ve said, ‘Well, we’re not sure, seems like it’s working.’ It seems like it’s firing up!”
Since JT’s condition has improved, the Borofkas can now focus less on medical milestones and more on family life and each other, something they couldn’t do when JT’s needs eclipsed their own. They’ve hired 24-hour nurse support and reinstated “date nights,” and together with JT, they love to read books, go on walks, and indulge their passion for fishing.
The community’s support for JT and his family has been great.
“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,” Ms. Borofka said.
With the family being able to face all the challenges head-on, their advice for other families whose loved ones are dealing with medical challenges is:
“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. 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.”
As they continue to persevere through this phase, the family remains hopeful.
“He’s a happy kid, he’s a fighter,” Ms. Borofka said. “He just has to fight until that lab comes up with a cure for him. ... We’ve taken bad news and turned it around, and now it’s like he’s born to change the world.”
