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Seven-month-old JT Borofka is one of 60 people worldwide diagnosed with Triosephosphate Isomerase Deficiency (TPI), an extremely rare disease that is life-threatening.
TPI is a genetic multisystem disorder with complications like respiratory and heart failure.
In addition to the TPI, JT has Hemolytic Anemia which is premature destruction of red blood cells in the body which requires blood transfusions. As the disease progresses other symptoms include neurological damage that can lead to paralysis, and intellectual disability, tremors and dystonia.
“We believe, and the doctors believe, that he’s the first person to be detected with this very rare disease before the neurological and major symptoms start,” explained father Jason Borofka.
JT’s parents, Tara and Jason, live in Salinas and have been married for 13 years. JT is their only child. They say at two months of age, their pediatrician detected low iron and oxygen levels in JT’s blood and sent them to Stanford Children’s Hospital in Palo Alto.
JT was diagnosed with TPI in March after five months of grueling testing. It was a gene panel test that confirmed the TPI diagnosis.
“Our doctors at Stanford and their team are scrambling to come up with a cure or some type of treatment for our son,” Jason explains.
There is no known cure or course of treatment for TPI and this is the first case ever documented in the State of California.
“The doctors gave him two-to-five years to live, and he said it going to be very tough on us and that it was going to be horrible. We cried for a solid week for sure but now we’re holding on tight and we’re going to try and beat this,” says Jason.
Later this month, JT will be admitted to Stanford Hospital for a week where doctors will try an experimental Ketogenic diet to see if it improves his iron and oxygen levels.
The Borofkas go to Stanford weekly where JT routinely has his blood drawn.
“The struggle is how many times he has to get his blood drawn, there isn’t a parent out there that can stand watching their kid getting his blood drawn,” said Jason.
To help offset the family’s mounting medical expenses, Angelina’s Pizzeria in Salinas’ Toro Park community is hosting a big fundraiser Saturday afternoon. Hundreds are expected to attend.
The fundraiser includes a silent auction with front row tickets to a Carrie Underwood concert, a guided fishing trip and dozens of other items that were donated by the community.
“We’re super excited and we’re thankful that everybody came together for us. The overwhelming support, it’s almost hard to talk about it,” Jason said.
It is Jason and Tara’s hope that by sharing their son’s story, it will raise awareness about TPI and ultimately lead to a treatment or cure.
“It’s more important that we’re building awareness especially around our little community and we’re really building a team. Awareness is almost more important than raising all the money,” said Jason.
This story originally appeared on KSBW.
This post was originally posted at https://www.sfgate.com/bayarea/article/We-cried-for-a-solid-week-Salinas-baby-one-of-13820796.php.