Background and Problem

Neuromuscular diseases (NMD) are rare genetic conditions that have very serious repercussions for affected individuals and their families. The management of NMD is complex and requires a coordinated, interdisciplinary approach to care. At present, there is no primary causal treatment for the large majority of NMDs, and affected individuals have to cope with progressive muscle wasting, weakness, recurring health crises and limited life expectancy. Due to improvements in symptomatic treatment and technology, individuals survive longer than ever before. Family caregivers are confronted with rising caregiver demands, high vulnerability for caregiver burden and increased risk for physical or psychosocial problems. Major life transitions such as the transition of an affected young person into adulthood and the late stages of the disease are among the most challenging disease stages.This population would benefit from an evidence-based and family-centred approach to care that empowers them to cope with crises and challenges and adapt to change. However, affected individuals are feeling under supported and face difficulty in accessing the appropriate specialist health care services. Today, seven Swiss neuromuscular centres for NMD patients contribute to high quality of care, but due to the multitude of health and mental problems care in general and care coordination of NMD patients in specific is challenging and time consuming. In addition, there is lack of resources and cost pressure which endanger financial sustainability of care coordination for patients with NMD.Research AimTherefore, the proposed study aims to investigate the current care situation of patients with NMD and their families in Switzerland to describe the status quo of the practice of care and to identify areas that work well and areas that need attention. This study further aims to develop and implement an evidence-based and family centred concept for NMD-Care Management and to evaluate its benefit for patients and families, for the interdisciplinary team, for the health care organisation and at a policy level.

Method

The proposed study involves quantitative and qualitative methods within a mixed methods study design. The study has three study phases: phase 1: situation analysis of the current care situation; phase 2: development of concept for NMD-Care Management; phase 3: implementation and evaluation of Care Management Services.The study is multi-centred and involves several Swiss health care institutions across language regions that are involved in the care of the NMD population. Throughout the project, patients, family members, health professionals and relevant stakeholders are involved, which positively influences long-term sustainability of the Care Management Service.Data Collection and Analysis Qualitative (interview data) and quantitative data (chart review, survey, outcome measures) will be collected from affected patients and their families, treating health professionals and other stakeholders / experts from different health care settings (inpatient, outpatient, long-term care). Interviews will be tape recorded, transcribed, and then analysed according to principles of qualitative data analysis. Quantitative elements will be analysed using descriptive and inferential statistics and multilevel analyses (linear mixed models) over time, where relevant.

Benefits

Expected positive effects of the Care Management service on patients and families are better family functioning, better quality of life, decreased caregiver burden, increased emotional, psychosocial and physical health, satisfied health care needs, fewer acute events and reduced hospitalisations. Among the expected benefits for professionals and at the institutional and policy level are increased quality of care and continuity of care, elimination of duplication, NMD expert network building and strengthening within and across health care settings, formation and exchange of NMD expert knowledge and reduced health care costs.