A Human in Human Genetics

As a teenager, I became fascinated by genetics but was perhaps more infatuated with medicine. This was before I learned enough about genetics to fully understand the meaning of the discipline and implications of its findings. I was stricken at an early age by a medical condition that caused foot deformities. It created difficulties for me in finding a pair of shoes that would fit and began to markedly disturb my gait and hinder walking. The major symptoms presented in my early teenage years. This was of interest because I had an older brother who was diagnosed much earlier in life with similar foot deformities and ambulatory problems. He was initially given a diagnosis of muscular dystrophy, a clinical diagnosis at the time with grave prognosis and consequences for his future health. Nevertheless, I was the second familymember diagnosed. Thus, even though the exact etiological clinical diagnosis may have been elusive, there was some suggestion of potential underlying genetics to explain this neuromuscular disease trait. Ultimately, we achieved a correct family diagnosis of Charcot-Marie-Tooth neuropathy (CMT).