title: The experiences of patients with Duchenne muscular dystrophy in facing and learning about their clinical conditions.
abstract: Patients experience extreme difficulty when facing an intractable genetic disease. Herein, we examine the experiences of patients with Duchenne muscular dystrophy in facing and learning about their disease. A total of seven patients with Duchenne muscular dystrophy (age range: 20-48) participated. We conducted in-depth interviews with them about how they learned of their disease and how their feelings regarding the disease changed over time. Transcribed data were analysed using thematic analysis. The following themes emerged from this analysis: "experiences before receiving the diagnosis," "experiences when they learned of their condition and progression of the disease," "supports," and "desired explanations." Anxiety and worry were most pronounced when they had to transition to using wheelchairs or respirators due to disease progression; indeed, such transitions affect the patients psychological adjustment. In such times, support from significant others in their lives helped patients adjust.
authors.affiliation: Graduate School of Human Sciences, Osaka University, Suita, Osaka, Japan.|Faculty of Education, Oita University, Oita, Japan; fjinoh@hus.osaka-u.ac.jp.
authors.forename: Haruo
authors.initials: H
authors.lastname: Fujino
authors.affiliation: Graduate School of Human Sciences, Osaka University, Suita, Osaka, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Iwata
authors.affiliation: Division of Child Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan.|Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Matsumura
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan.
authors.forename: Harutoshi
authors.initials: H
authors.lastname: Fujimura
authors.affiliation: Graduate School of Human Sciences, Osaka University, Suita, Osaka, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Imura
mesh_terms: D000223:Adaptation, Psychological; D000328:Adult; D001007:Anxiety; D018450:Disease Progression; D004644:Emotions; D005239:Fear; D006801:Humans; D007858:Learning; D008297:Male; D051346:Mobility Limitation; D020388:Muscular Dystrophy, Duchenne / Q000523:psychology*; D012121:Respiration, Artificial; D012944:Social Support; D012122:Ventilators, Mechanical; D014910:Wheelchairs; D055815:Young Adult
keywords: Duchenne muscular dystrophy; genetic disease; health communication; narration; qualitative study