I became a genetic counselor because of my family’s experience with hemophilia A. For World Hemophilia Day, perhaps it is appropriate to share my story.
I first learned about hemophilia A in my family and X-linked inheritance from my mother, who was a nurse, when I was about 14 years old. I remember the moment clearly. The idea that something at a molecular level could have such dramatic impact on a person’s health and on family relationships fascinated me.
I began to research genetics and learned about genetic counseling. My high school biology teacher helped me connect with the monthly genetics clinic run at the university. A friend of my mother’s invited me to join her daughter’s appointment.
I came across a non-fiction book called the “search for the Oncogene” which I now realize was a precursor to finding BRCA1/2 . That was it. I was hooked. I started researching genetic counseling and ended up training at the University of Michigan, graduating in 1996.
It’s 25 years later and I remain enthralled by molecular genetics and its impact on health. Sometimes I find myself breathing “wow” as I read about the genetic basis of disease. I feel thankful I have had a career serving patients and families affected by rare genetic disease and know that medicine and science are still in the very early stages of improving their care.