Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.

BACKGROUND: Glycogen storage disease type 5 (GSD) is an autosomal recessive inherited metabolic myopathy caused by a deficiency of the enzyme muscle glycogen phosphorylase. Individuals with GSD5 experience physical activity intolerance. OBJECTIVE: This patient-led study aimed to capture the daily life experiences of GSD5, with a focus on adapting to and coping with their physical activity intolerance. METHODS: An online survey was composed in close collaboration with patient organizations. It consisted of customized and validated questionnaires on demographics, general health and comorbidities, physical activity, psychosocial well-being and functioning, pain, fatigue and adapting to and coping with GSD5. RESULTS: One hundred sixty-two participants (16 countries) participated. The majority, n = 86 (69%) were from the Netherlands, USA or UK. We observed a high rate of misdiagnosis prior to GSD5 diagnosis (49%), surprisingly a relatively high proportion had not been diagnosed by DNA testing which is the gold standard. Being diagnosed had a strong impact on emotional status, daily life activities and important life choices. A large proportion had not received any rehabilitation (41%) nor medical treatment (57%) before diagnosis. Engagement in vigorous and moderate physical activity was reduced. Health related quality of life was low, most likely related to low physical health. The median Fatigue Severity Score was 4.3, indicating moderate to severe fatigue. Participants themselves had found various ways to adapt to and cope with their disability. The adaptations concerned all aspect of their life, including household chores, social and physical activities, and work. In addition to lack of support, participants reported limited availability of information sources. CONCLUSION: Participants have provided guidance for newly diagnosed people, including the advice to accept one's limited abilities and maintain an active lifestyle. We conclude that adequate counseling on ways of adapting and coping is expected to increase both health-related quality of life and physical activity.

Understanding living skills: first steps to evidence-based practice. Lessons learned from a practice-based journey in the Netherlands.

Living skills training is a commonly used but sparsely described and researched - occupational therapy - intervention for people with severe mental health problems. A service improvement project was established in a mental health organization in the Netherlands starting in 2006 to design more effective living skills training courses for individuals and groups. The steps of the evidence-based practice process underpinned the project. Theoretical and empirical evidence was derived from an extensive literature review. This was supplemented by the preferences of clients and their families as an equally valued source of evidence as is the experience and knowledge of a range of mental health professionals. Information from these three sources provided building blocks for the development of living skills training, resulting in an individual process guideline and two group courses. Implications for practice is that living skills training needs to be part of multidisciplinary treatment and can be best provided in the client's natural context. Limitations of this study are the lack of an evaluation of both the group courses and of the individual process guideline, also due to the continuous implementation in an ever-changing context. There is further need for research into the clinical and cost effectiveness of living skills training, both for individuals and groups, to support evidence-based decision making and service planning.