Background: Individuals diagnosed with Limb Girdle Muscular Dystrophy type 2I live with a chronic, sometimes life-threatening condition that has a significant impact on their quality of life. There is currently no approved disease modifying therapy.
Objectives: 1) Characterize the diagnostic journey of patients, 2) Identify key symptoms and functional deficits that have the most impact on quality of life, 3) Gain insight into the lived experience of LGMD2I.
Approach: A focus group of patients and family members was convened, and participants were asked to describe the diagnostic process, symptoms, and impact of the condition on their quality of life. We developed a discussion guide for a semi-structured discussion and conducted a content analysis of the transcripts to identify key themes and matters of significance.
Results: Patients reported a wide range of symptoms and functional problems that had a profound impact on daily life. Patients typically underwent a protracted and frustrating diagnostic journey. Living with the condition generated significant stress and anxiety for both patients and family members. Inconsistent guidance was received regarding disease management.
Conclusions: Our findings support the those of the few studies that report on the experience of LGMD2I patients and their families. Their reported experiences have several implications: 1) education is needed for the various health care disciplines that care for LGMD2I patients, 2) patients need access to support services and informal sources of support such as support groups and patient advocacy groups to facilitate coping and disease management, 3) patient advisory groups are needed to contribute their perspectives to the drug development process. Additional studies of the experience of patients can help health care providers gain a greater understanding of the disease and inform the clinical community in ways to best address patient needs.