Salinas Baby Boy Battles Rare Genetic Disorder With No Known Cure or Treatment

SALINAS (KPIX) -- Doctors at Stanford Medical Center are trying to save a baby boy with a condition so rare he may be the only person in the world who has it.

Young JT Borofka with his mother. (Borofka Family Photo via SaveJT.com)

Seven-month-old J.T. Borofka is battling a genetic, multi-system disorder called triosephosphate isomerase deficiency or TPI. Only about 60 cases have ever documented and there's no cure or treatment.

TPI starts as anemia but, later on, it becomes neurological, causing paralysis before it ultimately reaches the lungs and heart.

Physicians at Stanford spent months testing J.T. before finally reaching their devastating diagnosis.

"They couldn't figure out what was causing the anemia and that's when the doctors suggested the genetic panel test and we got the results back in March," said Tara Borofka, J.T.'s mother.

"The doctors, they gave him two to five years and they said it's going to be very tough on us and that it was going to be horrible," J.T.'s dad, Jason Borofka, added.

J.T's parents take him from Salinas to Stanford almost every week for testing. They're now seeking to raise awareness in hopes of one day finding a treatment or even a cure.

WEBLINK: Save JT http://www.savejt.com