California Baby Boy Diagnosed with a Rare and Deadly Disorder That Has No Cure

Comfort Omovre
May 12, 2019
11:04 A.M.

Eight months old baby JT Borofka from California has Triosephosphate Isomerase Deficiency (TPI); it is a genetic disorder that causes complications such as respiratory and heart failure. The disease is so rare that less than a few dozen cases have ever been reported.


It's been a trying time for the Borofka's who learned in March that they could lose their cute little boy to a rare and deadly disease. According to what the "U.S. National Library of Medicine" told JT's parents, the little boy might be the only breathing person in the world with the disorder.

To make matters worse, JT was also diagnosed with Hemolytic Anemia, which prevents an enzyme from breaking down sugar in the body thereby causing a shortage of red blood cells to circulate oxygen.

Two months after JT's birth, his parents who suspected nothing took him to the clinic for a checkup, and that was when the horror started.


The doctor noticed that the little boy looked pale and decided to do a blood test on him. After the results came back showing that JT's iron and oxygen levels were low, the parents were advised by the physician to take him to Stanford Children's Hospital.

But the results came out bad, and after a week the doctors asked that JT be immediately given a blood transfusion.

The gene panel, however, shows that he has (TPI) making him one of only about 50 people that have the genetic disorder in the world.


According to Johns Hopkins Medicine, JT must get repeated blood transfusions, and doctors say that the eight-month-old has about 2 to 5 years to live as his muscle weakens and suffers from heart failure.

The little cutie who is also the first person to have the condition in California visits the hospital every week to get his blood drawn which is a difficult task for him and his parents or any parent to watch or go through.

Due to the kind of treatments he has to undergo, JT's parents created a "GoFundMe" page in March for their son's treatment, and have raised $35,000 out of their $150,000 aim so far.

The couple hopes to find a cure for the rare and deadly disorder for the sake of their son and possibly any other patient.

"DailyMail" reported that the boy's pregnancy was healthy. The couple, however, hopes that JT's healing journey will raise awareness about TPI and, hopefully, result in a treatment or a cure.


Hope is a great thing to have in the face of turmoil and a woman named Laurie MacCaskill who survived more than a decade after receiving a pancreatic cancer diagnosis shares a message of hope to people with deadly diseases.

Doctors discovered in 2006 that she had Stage 3 pancreatic cancer after complaining of severe pains in her back. These pains started at the top of her head and spread throughout her body; often leaving her breathless and unable to get out of bed.


More than 53,000 people a year are diagnosed with pancreatic cancer, and only about 10,000 are expected to survive it. After surviving the deadly diseases through "positivity" and a lot of treatment, Laurie has since dedicated her life to helping other patients through awareness and raising funds for medical research and procedures towards the disease.

Although JT's condition is a sad one, we hope that a cure is found so that the little boy can have the blissful life that he deserves.

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