Stories about: fibular hemimelia

Citizen science: Genetic bone disease fuels a teen’s passion for research

citizen science

When I was just 3 months old, I was diagnosed with fibular hemimelia, a rare genetic condition that affects about 1 in 50,000 people. It manifests itself as the lack of the fibula bone, a key structural bone in the lower leg that provides major stability in the ankle and knee.

Fibular hemimelia leads to a severe leg length discrepancy — which, in my case, would have amounted to over 6 inches without treatment. Prior to my time at Boston Children’s Hospital, the go-to cure was amputation — replacing my lower leg with a series of prostheses.

Luckily, at the time of my diagnosis, leg-lengthening surgeries were just being approved in the U.S. My parents couldn’t bear to part with my leg, so over the course of 18 years, I have undergone 13 procedures to combat my leg-length difference, starting at age 5. This early exposure to the medical field, coupled with encouragement from teachers, led to a passion for science.

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