Aidan Yamashita
Gene: Unknown

Aidan was always a healthy and active kid. He was the one kid that was never home sick from school. When he was a freshman in high school, he noticed shortness of breath when he played ultimate frisbee. A trip to the pulmonologist provided us with an inhaler, with nothing more resulting from that visit. As a junior in high school, Aidan’s friend noticed his fingers would turn blue. A trip to the pediatrician revealed a low platelet count. From there we were referred to rheumatology, hematology, pulmonology, gastroenterology, genetics, and so on and so forth. We started at the University of Iowa and traveled to Boston Children’s Hospital, at which point short telomeres were discovered along with a definitive diagnosis of a telomere biology disorder resulting in liver disease and bone marrow failure. Aidan was evaluated for a liver transplant at the University of Iowa, Boston’s Children’s Hospital, Mayo Clinic, and Cleveland Clinic. He received a living donor liver transplant in Cleveland in June 2021. The bone marrow continues to be monitored with the expectation of a transplant in the future. There is no family history and no gene identified so we continue to participate in research to further understand this disease to help Aidan and others facing this journey. Aidan is now attending college and thriving, and forever grateful to his uncle for donating his precious liver. We are blessed to have the guidance and support of the Team Telomere community. Despite the challenges Aidan faces, he is positive and doesn’t let those challenges define him.