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My Gene Story - Jen

Gene Story photos courtesy of Daniel Dunlap Photography

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.
Jen and her FamilyI 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.
Jen