When JT Borofka was born, he was a seemingly happy and healthy baby boy. But when his parents took him to the doctor for his two-month checkup, they learned devastating news about their son that would change all of their lives forever.
JT was diagnosed with triosephosphate isomerase deficiency, otherwise known as TPI deficiency. It's a disease that impacts the body's ability to process sugars in the body. JT's TPI levels are extremely low.
The disease is so rare, it's estimated that less than 60 cases have ever been reported. Doctors told JT's parents, Tara and Jason, their son's life expectancy was between just two and five years.
"When they tell you your kid has two to five years, and he looks perfectly normal, and you know he’s gonna be normal, they’re telling you he’s going to be normal up until this one point, and then all of a sudden he’s gonna be paralyzed and breathing through a tube, and won’t be able to move, that’s like the scariest thing in the world," Jason Borofka said.
Just after his first birthday, JT contracted a bad stomach virus. From then on, JT's condition had worsened, including the necessitation of a breathing tube.
Because of the disease's rarity, there is only one lab in the world working to find a cure: Dr. Palladino, of the University of Pittsburgh and his team have developed a close relationship with the Borofka family. While the prognosis isn't good, Dr. Palladino has hope: "We know at a very molecular level what's wrong. We know what kinds of drugs should work. So we have some direction in our research. That gives us all a lot of hope that we can get there. Not just get there for TPI deficiency but get there in time for JT."
Lack of funding is one of the largest obstacles in the way toward finding a cure, and because of the global pandemic, many of the fundraising efforts the Borofkas had planned for 2020 had to be canceled. And with an ever-ticking clock, as Jason Borofka describes it: "Every day is like a year for him. He needs help now."
Watch more about this family and their fight to save their son in the featured video above.
For more information on the Borofkas or to help JT in his fight, visit SaveJT.com.