"We cried for a solid week": Salinas baby, one of 60 people with life-threatening disease in the world

JT Borofka, 7 months old, is one of 60 people diagnosed worldwide with a deficiency of triosephosphate isomerase (TPI), an extremely rare and life-threatening disease.

IPT is a genetic multisystemic disorder with complications such as respiratory and cardiac failure.

In addition to TPI, JT suffers from hemolytic anemia, that is to say from 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, intellectual disability, tremors and dystonia.

"We think, and the doctors too, that he is the first person to have been diagnosed with this very rare disease before the onset of neurological and major symptoms," said 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 that at the age of two months, their pediatrician detected low levels of iron and oxygen in JT 's blood and sent them to Stanford Children' s Hospital at Palo Alto.

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JT was diagnosed with IPT in March after five months of grueling trials. This was a gene panel test that confirmed the diagnosis of TPI.

"Our doctors at Stanford and their team are scrambling to offer treatment or some form of treatment to our son," says Jason.

There is no cure or treatment for IPT and this is the first documented case in the state of California.

"The doctors gave him two to five years to live, and he said it would be very hard for us and that it was going to be horrible, we cried for a good week, but we're holding on, and we're going to try to beat, "says Jason.

Later this month, JT will be admitted to Stanford Hospital for a week, where doctors will attempt an experimental ketogenic diet to see if he improves his iron and oxygen levels.

The Borofkas go to the Stanford weekly where JT regularly takes blood samples.

"The problem is how many times he has to take a blood sample, and no parent is able to watch his child get blood," Jason said.

To help offset the family's medical expenses, Angelina's pizzeria in the community of Toro Park in Salinas is organizing a big fundraiser Saturday afternoon. Hundreds are expected.

The fundraiser includes a silent auction with tickets in the front row for a Carrie Underwood concert, a guided fishing tour and dozens of community donated items.

"We are super excited and we are thankful that everyone has come together for us – overwhelming support, it's almost hard to talk about it," said Jason.

Jason and Tara hope that by telling their son's story, they will raise awareness of IPT and eventually lead to treatment or curative treatment.

"It's more important to build awareness, especially around our small community, and to form a team, and awareness is almost more important than collecting all the money," Jason said.

This story originally appeared on KSBW.