Duchenne muscular dystrophy (DMD) nonprofit Cure Duchenne recently hosted its 20th annual FUTURES conference in San Diego, California. I watched a session titled “Trailblazers: The FUTURE of Care.” It featured 4 medical providers who have been on the cutting edge of advancing aspects of care throughout various stages of DMD disease progression.
Richard Parad, MD, from Brigham and Women’s Hospital in Boston, has spearheaded a first-of-its-kind program for screening newborns for DMD. Using a blood sample from the baby, he says it is possible to find indications of the disease, such as elevated levels of the muscle enzyme creatine kinase. Then DNA sequencing can be utilized to determine if there is a DMD mutation present.
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Newborn screening is a state-by-state universal program already used for several medical conditions but currently doesn’t require DMD to be tested for. Parad stressed the importance of making this an official practice in more states. The disease is often diagnosed at ages 3-6. Without earlier detection, irreversible muscle damage has likely occurred. Parad stressed that diagnosis in younger individuals can improve the effectiveness of interventions made for DMD.
Pradeep Mammen, MD, is a cardiologist currently working at the University of Kansas. He discussed the prevalence of myopathy in female carriers of DMD. A variety of studies have indicated that different heart abnormalities like dilation could occur in nearly 60 percent of the subjects. Mammen says there is a clear need to focus on the cardiac health of DMD carriers for treatments like medication to be implemented if appropriate.
Pediatric neurologist Diana Castro, MD, of Dallas, Texas, went over inequalities that exist in the treatment of DMD. She says that insurance can be hard to come by and does not provide enough coverage to many families with a child who has DMD. There can also be language barriers, lack of access to vital equipment like power wheelchairs, and not enough time for doctors to speak to the families and social workers who might have less knowledge of key programs than others. On top of these obstacles, there is simply a lack of medical providers and institutions equipped to handle DMD. Castro added that there is often red tape that can create additional challenges.
Natalie Truba, PhD, is a clinical psychologist at Nationwide Children’s in Columbus, Ohio, and she did a presentation on the significance of making mental health care a priority for patients and families going through the DMD journey. She says that this is just as important as treating the muscles and should be a topic of discussion from youth to adulthood.
People who have DMD are living longer, and this is altering their mental health needs, Truba added. In particular, it can be difficult to face the stressors of caregiving. Parents are aging with the adults they care for, making outside help a necessity. There can also be difficulties with self-reliance since parents are often so involved.
Truba’s presentation hit home with me in particular since I’m 29 and dealing with many of the issues she discussed. Overall watching these presentations made me hopeful about the state of implementations that can be made to improve the trajectory of DMD. There is still plenty of progress to be made moving forward, it appears, though.