In and On their Own Terms: Children and Young People's Accounts of Life with Duchenne Muscular Dystrophy

Abstract

Semi-structured interviews were conducted with boys and young men who have Duchenne muscular dystrophy (DMD), a severe, degenerative condition that only affects boys. The main focus of the interviews was to explore how the participants thought they might make a decision to take part in medical research. To better understand this, aspects of the participants' lives were discussed; they talked about the impact of discomfort and declining mobility, and the social issues they experienced, such as discrimination and a sense of difference. Their observations indicate that living with a degenerative condition has physical and social impacts, and that there are limited opportunities for them to talk about these issues. It was also apparent that parents are key figures who provide care for their child, often in the absence of comprehensive support services. Raising these matters privileges the experiences of severely disabled children and young people, who live with increasing muscle weakness, disablist attitudes and intensifying support needs. Their contributions build on understandings of life with a degenerative condition, highlighting the intersection of impairment and social issues in their lived experience.

Development of a Clinical Global Impression of Change (CGI-C) and a Caregiver Global Impression of Change (CaGI-C) measure for ambulant individuals with Duchenne muscular dystrophy

“…This study further confirmed the significance in obtaining the patient's perspective in rare diseases where heterogeneity exists and the concepts and level of change meaningful for patients and their families can vary [22]. Consistent with published literature, the most frequently experienced symptom reported in all three populations was muscle weakness [23][24][25][26][27][28]. Clinicians described fatigue and cardiac difficulties as the next most frequently experienced symptoms, while caregivers and individuals with Duchenne reported fatigue and pain.…”

“…The findings related to difficulties with physical functioning were consistent amongst the three populations and with information documented in the literature regarding limitations in motor function [ 26 , 27 , 29 ]. All three populations noted that small changes in functional ability were meaningful, particularly when the changes led to a loss or gain of independence.…”

Ableist Constructions of Time? Boys and Men with Duchenne Muscular Dystrophy Managing the Uncertainty of a Shorter Life

“…Boys and men living with DMD demonstrate the strengths and limitations of health, education and social care systems in the countries in which they live. Research, from a social science perspective about the experiences of boys, men and their families, suggests that there are considerable barriers to education, training, employment, accessible housing, integrated services, reliable social care support, and relationships, including romantic and sexual ones (Abbott, Jepson & Hastie 2016;Abbott et al 2019;Gibson et al 2007;Skyrme 2017;Yamaguchi and Suzuki 2015). These challenges often come to the fore as boys and young men make transitions between child and adult services and more broadly, at transitions over the life course relating to age, identity, and sense of self (Abbott and Carpenter 2014;Gibson et al 2014).…”

Disabled men with muscular dystrophy negotiate gender

“…Recent research in the United Kingdom and Canada suggests that despite these improvements in healthcare interventions, the broader social and psychological support needs of men with DMD are not well served. Instead, there is a continuing focus upon medical needs as opposed to wider needs such as access to work, good quality support, independent living, social and leisure activities, emotional support and opportunities to develop sexual relationships (Abbott and Carpenter 2014;Gibson et al 2007Gibson et al , 2014Skyrme 2017). Amidst the challenges of planning for an 'unanticipated' adult life, men with DMD may well not have been supported to be and become men either.…”