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Understanding the experience of myotonic dystrophy. Mixed method study.
Amy Østertun Geirdal1, Inger Lund-Petersen, Arvid Heiberg
1Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, PB 4, St Olavs plass, 0130, Oslo, Norway, amy-ostertun.geirdal@hioa.no.
Journal of Genetic Counseling
|August 16, 2014
Summary
Living with myotonic dystrophy (DM) impacts patients and families differently. Relatives experience more anxiety and hopelessness, while patients report higher depression, highlighting the need for tailored support.
Area of Science:
- Neurology
- Genetics
- Psychology
Background:
- Myotonic dystrophy (DM) is a progressive, multi-systemic disorder.
- Current treatments do not prevent or cure DM, necessitating research into patient and family experiences.
Purpose of the Study:
- To examine the lived experiences of patients with DM and their next of kin.
- To compare the quality of life and psychological distress between patients and their relatives.
Main Methods:
- Mixed-methods approach combining cross-sectional questionnaires (Quality of Life, Psychological Distress) and semi-structured interviews.
- Involved 13 patients with DM and 8 next of kin.
Main Results:
- Next of kin reported higher anxiety and hopelessness than patients.
- Patients experienced greater depression.
- Next of kin reported higher physical quality of life but lower emotional quality of life compared to patients.
Conclusions:
- Findings underscore the significant burden on next of kin, which should be addressed in genetic counseling.
- Genetic counselors and healthcare providers should discuss burden minimization strategies for families affected by DM.
- Insights may inform counseling for other neuromuscular disorders.
