Electronic Thesis and Dissertation Repository


Doctor of Philosophy


Health and Rehabilitation Sciences


Shannon L. Venance, MD, PhD

2nd Supervisor

Andrew M. Johnson, PhD

Joint Supervisor


Health care for individuals living with myotonic dystrophy (DM1)—an uncommon, life-limiting neurological condition for which there are few treatments—may be challenged by patients’ symptoms including cognitive and behavioral impairments. Is patient-centered care—which incorporates the values, experiences and expertise of patients and their caregivers—feasible or achievable? Uncovering patients’ and their caregivers’ experiences of living with DM1, their health care expectations, and their health care providers’ (HCP) perspectives about care is essential for examining patient-centered care in this population. Therefore, the purpose of this research is to: (1) add patients’ and caregivers’ voices to the literature, (2) explore on-going care provision for individuals with DM1, and (3) probe whether patients’ and caregivers’ needs are being met.

Forty-eight participants were purposively sampled from one academic centre in Ontario, Canada to participate in three studies. Phenomenology, photovoice and grounded theory—qualitative methodologies that prioritize participants’ experiences and recognize that researchers and participants co-construct the data—were used to explore patients’, caregivers’ and HCPs’ experiences about living with — or caring for individuals—with DM1. Semi-structured interviews were the primary data collection method; focus groups and photographs were also used in the photovoice study. Data analysis varied by methodology.

Patient and caregiver participants’ described that DM1 symptoms—particularly fatigue and weakness— impacted their daily activities and sense of self; however, participants were resilient and problem-solved coping strategies. Patient and caregiver participants’ motivations for clinic attendance evolved along the disease trajectory, but most participants perceived that clinic attendance had tangible benefits. HCPs described that their main role was to provide hope for patients and their families. Most importantly, this research revealed that patient, caregiver and HCP participants described clinic as a ‘safe place’ for patients and caregivers to be understood, and to be empowered to take a proactive role in health care.

DM1 participants derived a therapeutic benefit from attending clinic despite providers concerns that patient-centered care was challenged by complex biopsychosocial issues. This research raises questions about whether a physician-led model is the most efficient mode of care provision, or whether other models warrant investigation.