Opinion
Video
Employing Novel Therapies for the Treatment of DMD
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An expert discusses how a 13-year-old boy with Duchenne muscular dystrophy faces the challenging transition to complete loss of ambulation, emphasizing the importance of gradual introduction of assistive devices and psychological support during this developmentally difficult period.
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This segment introduces a 13-year-old male patient diagnosed with Duchenne muscular dystrophy (DMD) at age 5, featuring a deletion in exon 44 that makes him amenable to exon 45 skipping therapy. The patient has been on daily prednisone since diagnosis and is experiencing the typical transition from assisted walking to complete wheelchair dependence, which commonly occurs from ages 12 to 13 with steroid therapy, providing a 1- to 3-year delay in disease milestones.
John Brandsema, MD, emphasizes the psychological challenges of this transitional period, noting that loss of ambulation coincides with normal adolescent development of independence, creating potential conflicts. The gradual introduction of assistive devices before they become necessary is presented as the optimal approach, allowing patients to view mobility aids as enabling tools rather than symbols of loss. This proactive strategy helps maintain quality of life and prevents the trauma associated with sudden mobility loss due to injuries.
The discussion highlights the importance of multidisciplinary support during these critical transitions, recognizing that both patients and caregivers may experience increased stress, anxiety, or depression. Early intervention with appropriate mental health resources and careful planning of mobility transitions can significantly improve outcomes. The segment establishes the foundation for understanding how timing and approach to therapeutic interventions can dramatically impact a patient's psychological adjustment to progressive disability.
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