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JT Borofka - Apple Pick of the Month



JT Borofka is a 3-year-old boy living in Lavon, Texas who was born with one of the rarest genetic disorder diseases that has ever existed. He is 1 of 9 people in the entire world that is living with TPI Deficiency. When he was born, we had no idea of his health condition. It wasn’t discovered that something was wrong until his 2-month checkup. When we visited the hematologist a couple days later, his iron levels were so low that he ended up needing an emergency blood transfusion. That is how our journey began.


At 5 months of age, a genetic test proved that JT carried a mutated gene called Triosephosphate Isomerase Deficiency (TPI for short). When the doctor told us that he had never heard of it and could not find any medical information about it, we were scared out of our minds. It didn’t help either that they said his life expectancy was 3 to 5 years. Needless to say, as first-time parents we were in shock and our hearts literally felt the pain of a million knives. It was the absolute worst day of our lives!


After a week of straight crying, we couldn’t take it anymore – we had to do something… anything! We started with a Google search but unfortunately had no luck. There were barely 2 pages of links. A month or so later, our Neurologist told us that she had found one doctor at the University of Pittsburgh who has been studying the disease for a few years. Well, long story short, we spoke to the doctor and he wrote out a plan of 3 studies he could do that would help further the research and possibly find a cure. He’s positive the disease can be cured but it takes time to do the research and he has only gotten so far with his lab fruit flies. That is when we created the Borofka Family Fund that would be solely for TPI research, and 2 weeks later we held our first fundraiser and raised $30,000 for the lab. Since then so many people have come together to help (I’m literally fighting back the happy tears right now) – the love we got from Family, Friends, our local community of Salinas Valley CA where we are originally from, celebrities, news stations, you name it – EVERYONE we know has come together for our sweet boy to help give him the best fighting chance he can get.



Today, JT is pretty much like all other 3-year-old little boys. He likes monster trucks, dinosaurs and puppy dogs, and his favorite movie is Disney’s Cars. We read a dozen or so books just about every day; I’ve never seen a kid enjoy books more than he does! We have not lived here in Texas very long but we wish we had moved here sooner. This place feels like home to us, and we love everything Texas has to offer… BIG and BIGGER. We are a bass fishing family with a love for the outdoors. JT has inherited the love for all things outdoors as well. He is much happier here!


JT has to get lab work done regularly and frequents the doctor’s office often, but this little boy shows his strength and willingness to fight all the time. At the moment, JT is not able to sit or stand on his own. His disease causes movement abnormalities, so his muscle tone is weak. Having the trach has delayed his speech as well, however PT and speech therapies are ongoing and showing improvements. JT continues to keep that infectious smile that will melt your heart and make you feel warm and fuzzy inside. He has happy powers and sometimes laughs out loud – even when he doesn’t have a speaking valve in. 😊


Every once in a while, fear and sadness will creep in which is normal for any parent dealing with a sick child. We can’t but imagine what life “should” be like. At first, there were a lot of restless nights and heck, that still is the case for us since we haven’t opted for that overnight nurse yet. But at the end of every day when we see JT happy or want to give us a hug & a wet sloppy tongue kiss on our cheeks, we can’t help but think that everything happens for a reason, and he is our blessing! We are doing the best we can and will continue our efforts to spread awareness to help other families.


The University of Pittsburgh lab continues to do research for a cure which keeps us 100% hopeful and gives us the strength to stay positive every day. We were given JT for a reason, and we know now that he was born to change the world for the better! You can follow JT on his social media pages: JT Borofka on Facebook, Instagram, YouTube, and his website: SAVEJT.COM


Much Love and Best Wishes to other Apple Parents ~ Stay Strong & Happy for your littles.

The Borofkas <3

-Jason, Tara, and JT



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