Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results from mutations in the dystrophin gene. Dystrophin is part of a protein complex within muscle cells that strengthens and protects muscle fibers during flexion and relaxation. Genetic abnormalities in dystrophin result in defective or absent dystrophin, muscle cell death and accumulation of fibrotic, nonfunctional muscle tissue. Dystrophin may also play a role in cell-to-cell signaling through the sending and receiving of chemical messengers. Dystrophin is primarily present in skeletal and cardiac muscle, but it also exists in small amounts in nerve cells and brain tissue. The gene for dystrophin is large, containing 79 exons spread over 2.3 million base pairs of DNA.

DMD is the most common and severe form of childhood muscular dystrophy, with an incidence of 1 in 3,500 boys.¹ The disease typically presents between the ages of 2 and 4 years, when a delay in gross motor milestones is noted. Independent ambulation is typically lost by the end of the first decade, with death occurring during the second or third decade as a result of cardiopulmonary failure.¹

Contemporary use of corticosteroids has dramatically improved the health and quality of life of boys with DMD.^2-4 Advances in respiratory support have postponed the onset of pulmonary complications, further contributing to improved outcomes.^5-9 Despite these innovations, the long-term prognosis remains the same. Parents and patients are faced with a progressive fatal disease.

Studies investigating the needs of young adults with DMD in Europe and Canada have documented a lack of physical, financial, educational, social and emotional support for patients and their families.^10-12 A 1980 study of patients 8 to 21 years old investigated parental perspectives and identified strategies necessary for managing the disease and related issues.¹³ The study documented the enormous amount of time and energy required by parents to successfully navigate multiple systems to meet their children's many needs.

Because the last study of parental needs was conducted more than 20 years ago, we sought to determine whether the same issues remained in 2008. We also wanted to speak with patients to hear their perspectives. The goal of this study was to identify current important issues and areas of need from the perspectives of patients with DMD and their parents. Our mission was one of discovery rather than validation of past research.

Methods

Harris Interactive Inc., a professional focus study firm, conducted our focus groups. Potential participants were identified from a population of patients with DMD who were under the lead author's care, lived near the focus study setting and were within the age parameters. Patients and their mothers were invited to attend a 1-hour, moderator-led focus group. Twenty-one families were contacted; ten boys and eleven mothers agreed to participate.  (One mother attended without her son.) Reasons for not participating included distance to the facility and scheduling conflicts. A $75 honorarium was paid for participation. Institutional review board approval was obtained for the study.

Participants were divided into two groups. Patients in Group 1 included early adolescents and their mothers, and Group 2 included late adolescents and young adults and their mothers. We formed these groups to investigate the similarities and differences between the two age groups. The six young men in Group 1 were between ages 13 and 16. All lived at home and attended school. The four men in Group 2 were between the ages of 17 and 23. All lived at home. Two attended college, one was in high school, and one was home schooled.

The mothers and sons were separated for the focus groups, and information was not shared between them. The discussions were led by professional moderators hired by Harris Interactive. All sessions were videotaped and transcribed. Harris Interactive and the lead author analyzed the data for themes.

Discussions centered on five general topics: peer and family relationships, sexuality, medical care, obstacles encountered in daily living, and concerns or aspirations for the future.