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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 lesions that can lead to paralysis, as well as intellectual disorders, tremors and dystonia. >> Click here to learn more about the diagnosis of JT "We think, and doctors, that he is the first person to be screened. with this very rare disease before the onset of neurological and major symptoms, "said Tara and Jason, parents of JT's father, 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 the Stanford Children's Hospital in Palo Alto. JT was diagnosed with IPT in March after five months of grueling trials. This is a gene panel test that confirmed the diagnosis of TPI. "Our Stanford doctors and their team are trying to find a cure or treatment for our son," says Jason. There is no known cure or treatment in progress. for TPI and this is the first case documented 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 it would be horrible. We have been crying for a good week, but we are holding on and we will try to beat him, "says Jason. Later this month, JT will be admitted to Stanford Hospital for a week, during which doctors will attempt experimental ketogenic diet to see if he improves his iron and oxygen levels. The Borofkas go to the Stanford weekly where JT regularly draws blood. "The problem is how many times he has to take a blood sample. No parent is able to watch his child get blood, "said Jason. To help offset the increased medical expenses of the family, the Angelina pizzeria in Toro Park community in Salinas is organizing a big fundraiser Saturday afternoon. Hundreds are expected. The fundraiser includes a silent auction with tickets for a Carrie Underwood concert, a guided fishing tour, and dozens of community donated articles: "We are very excited and grateful that everyone has come together. for us. The crushing support is almost hard to talk about, "said Jason. It is Jason and Tara's hope that by telling their son's story, it will increase awareness of IPT and eventually lead to treatment or curative treatment. "It's more important to build awareness, especially around our small community, and build a team. Awareness is almost more important than lifting all the money, "Jason said.
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.
>> Click here to learn more about the diagnosis of JT
"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 the Stanford Children's Hospital in Palo Alto.
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 it would be horrible. We cried a good week, but now we're holding on and we're going to try to beat that, "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. No parent is able to watch his child get blood, "said Jason.
To help offset the increased medical expenses of the family, the Angelina pizzeria in Toro Park community 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 very excited and grateful that everyone has come together for us. The overwhelming support makes it almost hard to talk about it, "said Jason.
Jason and Tara hope that by telling their son's story, they will raise public awareness of IPT and eventually lead to treatment or curative treatment.
"It's more important to build awareness, especially around our small community, and build a team. Awareness is almost more important than lifting all the money, "Jason said.
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