It continues: “TPI deficiency is the most severe form of a group of diseases known as glycolytic enzymopathies, which are rare genetic diseases that lead to the degeneration of the red blood cells. Signs and symptoms include anemia, fatigue, pallor, yellowing of the skin and the white of the eyes (jaundice), and shortness of breath.
“Other symptoms are muscle weakness and wasting (atrophy), movement problems (such as involuntary muscle contractions (dystonia), tremors and weak muscle tone), seizures, cardiomyopathy, and diaphragm weakness which may cause breathing problems and lead to respiratory failure.”
JT’s parents, Jason and Tara Borofka, have explained that their son’s case is particularly unique.
“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,” Jason told KSBW.
JT’s condition was discovered when he was sent to Stanford Children’s Hospital at 2-months-old. His paediatrician detected low iron and oxygen levels, leading to him becoming the first TPI case ever documented in California.
“Our doctors at Stanford and their team are scrambling to come up with a cure or some type of treatment for our son,” Jason said.
“The doctors gave him 2 to 5 years to live, and he said it’s 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.”
Spreading awareness
It’s Jason and Tara’s aim to spread awareness of TPI, with the ultimate aim to find a cure for their baby boy. They’ve set up a GoFundMe Page that can be found here.
We’re sending all our prayers in the direction of little JT.
If you want to do the same, share this article on Facebook to help Jason and Tara get the message out.