It can be frightening and overwhelming to receive a rare disease diagnosis—and especially so if that rare disease is still poorly understood. When the Borofka family learned that their son JT had an ultra-rare multisystem genetic disorder called triosephosphate isomerase deficiency (TPI), and that he was only the 60th person in the world who was diagnosed, these emotions hit them full force. What would this mean for their beloved son? 

According to reporting from Torstein Rehn of KSBW Action News, JT first presented with low blood iron levels, as well as low oxygen levels. When he was diagnosed, the doctor mentioned that his life expectancy was between 2-5 years. 

But JT has defied expectations. The joyful boy recently celebrated his fifth birthday with his family. The Make-A-Wish Foundation even threw him a fish-themed party (how fun does that sound?!). 

We wish you a happy birthday, JT, and hope that the future brings more light, love, research, and treatment options. 

What We Know About TPI

Triosephosphate isomerase deficiency is a rare multisystem disorder caused by TPI1 gene mutations. Normally, TPI1 encodes for the production of triosephosphate isomerase 1, an enzyme that plays a role in glycolysis (breaking down sugars to provide cellular energy). When the gene is mutated, the enzyme does not work properly. Red blood cells, white blood cells, cardiac muscle cells, and nerve cells in the brain begin to break down and die. Altogether, only around 100 people worldwide have been diagnosed with TPI since its discovery in 1964; only an extremely small subset of those people are still living. 

TPI often manifests in infancy as hemolytic anemia, which has symptoms such as:

• Jaundice (yellowing of the skin, eyes, and mucous membranes)
• Shortness of breath
• Extreme fatigue
• Pale skin 

Additional symptoms and complications associated with TPI, which often appear in late infancy or early childhood, may include: 

• Muscle weakness and wasting
• Movement difficulties
• Tremors
• Hypotonia (poor muscle tone)
• Cardiomyopathy
• Lack of deep tendon reflexes
• Difficulty breathing and/or respiratory failure
• Increased risk of severe bacterial infections 
• Involuntary muscle tensing
• Seizures

Unfortunately, this disease is often fatal in early childhood. Those who live into adulthood often have less severe manifestations. Right now, there are no treatments specific to TPI. More research is needed.