LIVING WITH Duchenne Muscular Dystrophy

A Mother’s Perspective

Alex, Christopher, Mindy

By Christina McGairk

Duchenne Muscular Dystrophy, also known as Duchenne or DMD for short, is a rare genetic disorder that is caused by a genetic mutation that stops the body from making a protein called dystrophin, which helps the muscles move properly.

If this protein is not present, muscle cells begin to weaken and become easily damaged. Over time, those with Duchenne lose their mobility and have trouble breathing. Unfortunately, as the disease progresses the respiratory and heart muscles eventually stop working. Life expectancy, although improving, is still not that long. Instead of a life expectancy reaching into the teens, with advancements in Duchenne treatment and research, some patients now live into their 30’s or 40’s.

According to the Muscular Dystrophy Association (MDA), DMD occurs in 1 in 3,500 to 5,000 males worldwide. Although males are primarily diagnosed with this disease because of the DMD gene falling on the X chromosome, females can be carriers and experience some Duchenne-type symptoms.

Mindy Cameron of Carmel, IN, had never heard of the disease until her son was diagnosed. Yet now, she’s making it her life’s mission to educate others and advocate for those living with Duchenne.

She has led awareness campaigns, raised funds for DMD research, worked with the Department of Defense Duchenne Muscular Dystrophy Research Program, and was involved in developing the Duchenne Family Assistance program.

Cameron even climbed Mount Everest with other families to raise funds for Duchenne research. She’s also on the Carmel Disability Council and a board member of the Muscular Dystrophy Family Foundation of Indiana.

She and her husband, Alex, knew something wasn’t right when they noticed their son Christopher wasn’t reaching his milestones. “He wasn’t rolling over as an infant, he really didn’t get off the ground, and he still wasn’t speaking at 2 years old,” said Cameron.

The Camerons had Christopher’s ears and eyes checked, but it was his physical therapist that noticed he had signs of muscular dystrophy. He was diagnosed with Duchenne at just under 3 years old by a pediatric neurologist.

“I felt very shocked,” said Cameron. “The news was pretty hard to hear. I threw myself into advocacy, and now it’s such a huge part of my life.”

As the disease progressed, Christopher had trouble walking by age 8, and by the time he was 12, he was in a wheelchair. He has been taking a steroid to help his pulmonary function for the past 17 years.

Cameron, a mother of 2, had always hoped her son would be eligible for gene therapy, but unfortunately, his unusual mutation makes it highly unlikely. There are now clinical trials for Duchenne medications, but Christopher is too old to participate in those trials. One of the hardest things Cameron had to face was finding out that she was actually a Duchenne carrier, which happened when Christopher was 7 or 8 years old. According to the MDA, females who are carriers of the disease can display symptoms such as muscle weakness and heart issues, both of which Cameron battles with.

Despite the hardships of the disease, including when Christopher fractured a bone at age 16 and flatlined in the hospital, the Camerons are trying their best to stay positive.

“We don’t want to dwell on the negative,” said Cameron. “Our family believes in just living the best you can; there’s always a way.”

Christopher, now 21, is a sophomore at Ball State University, where he majors in creative writing.

“He loves to write,” said Cameron. “He’s already written a few screenplays and a tv series.”

To learn more about Duchenne, or get details on the Muscular Dystrophy Family Foundation benefit concert in September, visit www.mdff.org.