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The Diagnosis
On March 5th 2019, I was diagnosed with Triosephosphate Isomerase Deficiency (TPI). My parents were devastated to hear my estimated lifespan is probably 2 to 5 years. TPI is a genetic multisystem disorder that is life-threatening, complications such as respiratory and heart failure can occur during childhood. In addition to the TPI, I have Hemolytic Anemia which is premature destruction of red blood cells in your body and is why I will need regular blood transfusions. As the disease progresses other symptoms include neurological damage that can lead to paralysis, and intellectual disability, tremors and dystonia.
I am currently being treated at Stanford Children’s Hospital and unfortunately at this time, there is no cure for the underlying issue. My Team of doctors are doing what they can by treating the individual symptoms as they arise.
Since there are less than 70 cases ever reported there is very little information found in medical literature. TPI Deficiency is so rare that I am the first person in California to ever have it. As of right now, I am one of five in the entire world with TPI.
From the bottom of my heart, my family is asking for donations that will help fund medical research about this disease and assist with medical expenses and treatments. Any support you can offer for this campaign is greatly appreciated!!