When 11-month-old J.T. Borofka of Salinas, California, was diagnosed with an extremely rare disease, his family felt shocked, confused and desperate for answers. J.T. was diagnosed with triosephosphate isomerase deficiency (TPI) — a severe metabolic disorder characterized by a shortage of red blood cells (anemia), neurological problems, infections and muscle weakness that can affect breathing and heart function.
TPI is so rare that only eight known cases exist around the world — four of which have been identified in the United States. Due to its rarity, little research has been done on the disease and very few people know it exists.
“Have you ever Googled something, and only one page of Google is there?” asked Tara Borofka, J.T.’s mother. “I mean that’s how rare it is, there wasn’t pages of this disease found and there’s not a lot of research on it.”
The road to J.T.’s diagnosis began at his two-month pediatrician appointment. His doctor noticed he was unusually pale and sent him for a blood test. The test indicated surprisingly low iron levels, and J.T.’s pediatrician referred him to doctors at Lucile Packard Children's Hospital at Stanford University, who determined he was anemic. J.T. unexpectedly required an emergency blood transfusion while at Stanford, and his doctors ordered a genetic panel test that showed a mutation in his TPI1 gene and ultimately lead to his diagnosis of TPI.
Currently, no cure has been found for TPI, and J.T.’s life expectancy is another two to five years at best. He is asymptomatic, apart from his anemia, but will eventually succumb to the symptoms associated with the deficiency.
The Borofkas found their only source of hope when they stumbled upon the University of Pittsburgh’s Michael Palladino, professor and vice chair of faculty affairs in the department of pharmacology and chemical biology at the School of Medicine, whose research is focused solely on finding a cure for TPI. He is the only researcher actively pursuing a cure for this specific condition.
“It feels good that there’s someone somewhere in the world working on this,” said Jason Borofka, J.T.’s father. “The panic of looking and searching was just driving us nuts.”
Palladino and his research team have been studying TPI and other metabolic disorders for 16 years at the School of Medicine. He identified a mutant protein, spent several years working to understand the disease and is now optimistic his team will find a cure for TPI in the future.
“Over the last few years our focus has turned from understanding the disease to looking for a cure,” said Palladino. “Our focus is on chemicals, compounds and drugs that would stabilize the mutant protein.”
Given that TPI is highly uncommon, there is not a foundation or organized body in place to fundraise for a cure. The Borofka family has taken it upon themselves to raise $1 million to help Palladino find a treatment for TPI that will save their son. They have so far raised $200,000 through fundraisers at pizzerias, golf outings and various other events.
“They’re working hard, and it seems like almost every weekend they’ve got something going on to try and raise money,” said Palladino. “It’s work that I can’t do — I raise money by writing grants and hoping for a fair review from the NIH and fortunately that happens often enough that I’ve been able to keep the research going, but I’m looking forward to having a source of money for the research I have been unable to get NIH funding for.”