The Diagnosis
Our imperfectly perfect family was given a very difficult blow on February 12, 2012. Our youngest son, T.J., was diagnosed with Duchenne Muscular Dystrophy at the age of 7. Life as we knew it changed in a single moment.
Duchenne Muscular Dystrophy (DMD) is a genetic, fatal, degenerative, progressive, muscle-wasting disease that affects approximately 1 in 5,000 live male births. It impacts every muscle in the body, eventually breaking down the heart and lungs. Duchenne is a mutation carried on the X chromosome, so it predominately affects males, but it can affect girls on rare occasions. Approximately 1/3 of diagnosed cases are due to spontaneous mutations; therefore, not passed from mother to child. DMD knows no culture, racial, social or economic boundaries. It can affect anyone.
Living Life
Years after Diagnosis Day, we are still learning. We are still dealing. I believe, in a way, we always will. There are so many new obstacles in our path – medical equipment, medicine, traveling for multiple specialist appointments, clinical trials and conferences, unexpected costs, IEP meetings, and just navigating this new life. We seem to be always adapting to our “new normal,” but I believe that is what makes anyone successful!
Yes, there are hurdles. But there are so many more blessings. Nothing puts your priorities in perspective like a terminal diagnosis for your child. We love more. We talk more. We pray more. And we just live more. We are also extremely grateful to our tribe. We definitely have an incredible rooting section that keeps us going!
Not to be super cliché, but we really do live for today. We do not let the diagnosis define life.
I have found that the laundry and dishes can wait. No, we aren’t lazy. There are still chores, and there are still a million tasks to do; but when push comes to shove, cuddling, talking, praying, laughing, and loving are at the top of those to-do lists now.
Hope on the Horizon
Currently, there is no cure for Duchenne. There is no treatment. The average life expectancy when T.J. was first diagnosed was early to mid-’20s. However, survival into 30’s and even 40’s in some cases are becoming more common. There is hope! Every day we see the efforts of the Duchenne community leading us closer to a cure.
For more information (from experts that can explain it all much better than I can), please visit the following sites.
http://www.cureduchenne.org/ – Cure Duchenne is another organization whose primary goal is to cure Duchenne and save this generation of boys and girls living with Duchenne. They also focus on awareness, advocating for our children’s rights and supporting quality research.
http://endduchenne.org/ – Parent Project Muscular Dystrophy is a wonderful organization started in 1984 by president & CEO, Pat Furlong. Pat’s two sons were diagnosed with DMD and eventually lost their lives to Duchenne in their teens. Pat was never willing to accept that there’s no hope for our children. Through her leadership and the dedication of other family members affected by Duchenne, our children have hope and access to quality medical care and research.
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