Family celebrates another year with their son, who is suffering from a rare genetic disease



The Borofka family celebrated their son JT’s second birthday by throwing him a drive-by birthday parade Sunday. JT Borofka has already overcome more obstacles than most kids his age. Suffering with Triosephosphate Isomerase Deficiency, or TPI, his rare genetic disease has been challenging.“He’s weaker, but at the moment he’s stable,” explained JT’s mom, Tara Borofka. “We still work with physical therapy. He’s got a little bit better head control. JT is extremely strong and doesn’t give up. If there’s a toy that is a little too far, he will reach for it, even if he has to fall over.”And just like JT, his doctors in Pittsburgh aren’t giving up either.“The next step is to go through all the compounds they have found that could possibly be a cure,” explained Jason Borofka, JT’s dad.Michael Palladino, professor of pharmacology and chemical biology at the University of Pittsburgh School of Medicine, said those compounds will need to be tested.“We can test them first in a mouse model,” explained Palladino. “If you can show that not only did it work in JT’s cell. We have JT’s cells to test these drugs in, but when we put it in an animal model with his same mutations, that that animal model improves as well.”The process can take anywhere from 8 months to 3 years, but while the Borofka’s wait for the cure, they’re focusing on celebrating another year with their son.If you would like more information about JT and the researching being done in Pittsburgh, you can visit their website.

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The Borofka family celebrated their son JT’s second birthday by throwing him a drive-by birthday parade Sunday.

JT Borofka has already overcome more obstacles than most kids his age. Suffering with Triosephosphate Isomerase Deficiency, or TPI, his rare genetic disease has been challenging.

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“He’s weaker, but at the moment he’s stable,” explained JT’s mom, Tara Borofka. “We still work with physical therapy. He’s got a little bit better head control. JT is extremely strong and doesn’t give up. If there’s a toy that is a little too far, he will reach for it, even if he has to fall over.”

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And just like JT, his doctors in Pittsburgh aren’t giving up either.

“The next step is to go through all the compounds they have found that could possibly be a cure,” explained Jason Borofka, JT’s dad.

Michael Palladino, professor of pharmacology and chemical biology at the University of Pittsburgh School of Medicine, said those compounds will need to be tested.

“We can test them first in a mouse model,” explained Palladino. “If you can show that not only did it work in JT’s cell. We have JT’s cells to test these drugs in, but when we put it in an animal model with his same mutations, that that animal model improves as well.”

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The process can take anywhere from 8 months to 3 years, but while the Borofka’s wait for the cure, they’re focusing on celebrating another year with their son.

If you would like more information about JT and the researching being done in Pittsburgh, you can visit their website.



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