Nonpharmacologic Interventions
Physical therapy is a mainstay in DMD treatment, addressing protection of fragile muscles, preservation of strength, and prevention of muscle contractures.16 Given the respiratory impairments that occur with DMD progression, respiratory monitoring and therapy are essential; however, the number and type of evaluations and interventions vary with the stage of the disease, intensifying as the disease progresses.16 Similarly, cardiac monitoring should begin early, with patients screened for cardiac complications, and should intensify through the stages of disease progression.16
Bone health is compromised in patients with DMD, both as a result of corticosteroid treatment and as part of the disease itself. Fractures may be asymptomatic and may go unnoticed. Thus, bone health surveillance and maintenance are critical components of DMD management.16
Patients with DMD often experience gastrointestinal issues. They may experience weight gain because of lack of mobility and corticosteroid use in early stages, or weight loss as a result of diet or fluid imbalance, low bone density, or dysphagia in later stages. Patients should be closely followed by a nutritionist, a gastroenterologist as needed, and a physical therapist.16
Psychosocial support “should be developed and implemented across the lifespan in a manner that promotes thinking about the future and sets expectations that individuals will actively participate in their care and daily activities.”9 This includes psychological care, neuropsychological evaluations, and educational support.
Assisting Patients and Families Through the DMD Journey
DMD care is best delivered in a multidisciplinary setting, where physicians of relevant specialties, physical and occupational therapists, nutritionists, social workers, and genetic counselors collaborate. At Children’s Hospital of Philadelphia, DMD care is delivered through this collaborative model.
Unfortunately, Dr. Brandsema said, many patients don’t have this type of multidisciplinary resource available. “One specialist, such as a pulmonologist or neurologist, might have to be the sole source of care.” Or parents may have to ferry their child to multiple specialists in disparate locations, placing extra stress on an already-stressed family system.
“It’s helpful to connect the family with a comprehensive care center, if possible,” Dr. Brandsema advised. If that’s not available, then he suggests recommending educational opportunities and resources through national organizations such as the Muscular Dystrophy Association; Parent Project MD; NORD; Friends, Family and Duchenne; and Cure Duchenne. Families and caregivers, along with affected individuals, can get education and support from people who understand the day-to-day reality of living with this disease.
One of the major challenges that families face is navigating the high cost of treating DMD, especially the new medications, Dr. Brandsema said. “The authorization process can be intensive and long, and the family may need to take an active role, together with the provider team, in advocating for the patient to get access.”
courtesy Children's Hospital of Philadelphia
Taylor Kaschak
Among her many responsibilities, Ms. Kaschak engages in care coordination tasks and management, helps patients and caregivers understand care plans, and provides psychosocial support and education about the disease process. She assists families in completing paperwork and navigating specialty authorizations, helping families understand and navigate the complex insurance process. “My role is to bridge gaps in care,” she said.
Dr. Brandsema noted that it’s important for couples to receive genetic counseling if they’re planning to have multiple children because there is a 50% chance that their next boy will be affected. About two thirds of mothers with children who have DMD are carriers, but many are not aware of it. Receiving counseling will enable them to understand their own risks of health complications, as well as the risk to future children.