Duchenne muscular dystrophy, a hereditary form of progressive muscular dystrophy, affects 1 in 3,500 males. Before I was even born, my older brother, Greg, was diagnosed with Duchenne, with no history of the disease in my family. Not until I was 17 did I come to realize that I could be a carrier of my brother’s disease, affecting my own sons one day. A carrier of Duchenne has a 1 out of 2 chance to have an affected son, and the carrier is at increased risk for heart problems. At that time, I learned my brother had intentionally banked his blood so that I could one day have genetic testing – knowing that by the time I would be tested, he may no longer be alive.
I worked with genetic counselors who explained to me the probability of being a carrier and how the results could impact the rest of my life and my choices. Through the process, I learned I am NOT a carrier of Duchenne muscular dystrophy. I was no more at risk of having a child with my brother’s disease than any other female. Words cannot explain the relief and joy I experienced the day I was notified. The knowledge I gained from the experience is a true gift – a gift I would not have without genetic counseling.
Gene Story photos courtesy of Daniel Dunlap Photography