A California baby has been diagnosed with a rare disease that only 59 others around the world are known to have.
Doctors haven’t been able to find a cure or treatment for the disease, triosephosphate isomerase deficiency (TPI).
According to the Genetic and Rare Disease Information Center at the National Institutes of Health, the deficiency “is a severe disorder characterized by a shortage of red blood cells (hemolytic anemia), neurological problems, infections, and muscle weakness that can affect breathing and heart function.”
“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,” it stated.
“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,” it added.
JT Borofka of Salinas, 7 months old, was diagnosed with the rare disease shortly after birth, his parents told KSBW.
“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 Borofka, JT’s father, told the broadcaster.
The boy is Jason and Tara Borofka’s only child. When he was 2 months old, he was sent to Stanford Children’s Hospital after his pediatrician detected low iron and oxygen levels. It was 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 Borofka 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.”
The couple wanted to share the baby’s story in the hopes of raising awareness about the rare disease. They hope that doctors will be able to find a cure.
In addition to TPI, the parents said on a GoFundMe fundraising page that the infant also has the hemolytic anemia disorder.
According to Johns Hopkins Medicine, “hemolytic anemia is a disorder in which red blood cells are destroyed faster than they can be made. The destruction of red blood cells is called hemolysis.”
“Red blood cells carry oxygen to all parts of your body. If you have a lower than normal amount of red blood cells, you have anemia. When you have anemia, your blood can’t bring enough oxygen to all your tissues and organs. Without enough oxygen, your body can’t work as well as it should,” it added.
“Hemolytic anemia can be inherited or acquired: Inherited hemolytic anemia happens when parents pass the gene for the condition on to their children. Acquired hemolytic anemia is not something you are born with. You develop the condition later.”
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