Skylar Grossberg
Gene: TERC

For generations, my family has suffered from illnesses associated with telomeres disorders. Since the rare TERC gene is a recent discovery, the cause of my family’s consistency with terminal illnesses was unknown for a long time.

My father was the first to receive a diagnosis of dyskeratosis congenita. It wasn’t until his mid-thirties, when I was seven years old, that his health significantly declined. Doctors decided to run numerous tests when they found that he held the TERC gene. After they discovered that he had also developed AML, he was immediately sent to an oncologist who recommended that he get a bone marrow transplant. A few years later he acquired pulmonary fibrosis, leading to a double lung transplant. Only months later, my dad passed away due to complications on April 27, 2017. I was only 11 years old. While my family was all grieving my father’s death, my doctors and mom decided it would be  best for both my sister and I to get tested for the disease. Unfortunately, the tests came back inconclusive.

At the age of 13, I ended up in the ER where the doctors found out that I was severely anemic, both my platelets and white blood cells were low. I was then recommended to see a hematologist for further testing. In order to approach the situation in the safest way possible, I was sent to a hematologist who specialized in dyskeratosis congenita, this way I could get retested and the doctors could assess if my poor counts were caused by the disease. Unlike the first testing, this test came back conclusive. It revealed that I also acquire dyskeratosis congenita. Because of the positive results, my doctor then ordered a variety of tests. All of my tests came back normal except for my bone marrow function tests. It was found that only half of my bone marrow was functioning and bad cells had begun mutating. A year later, I underwent another biopsy where they found that only five percent was functioning (barely) and the bad cells had tripled in amount. At this point, it was decided I would undergo a bone marrow transplant.

In January of 2021, I was admitted for the transplant for which my doctors used a specific regimen for other people with dyskeratosis congenita. On January 15, 2021, I received my transplant. After a month in the hospital, I got to go home. The first few months after the transplant was exhausting but I knew that was normal, but shortly later that changed. I had begun experiencing numerous debilitating issues. After months of trying to figure out what was wrong, I received a diagnosis of dysautonomia and severe gastroparesis. My gastroparesis severely impaired my ability to get nutrients so I have been relying on tube feeds since June.

Generally speaking, dyskeratosis congenita has brought challenges into my life, it has also provided me with the opportunity to discover my passion for science. Now in my senior year of high school, at 16, I am applying to colleges with the intent of spending my time participating in research on telomeres in addition to learning more about medicine, in general, to prepare me for becoming a doctor.

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