OBJECTIVES: Studies on the burden of disease typically focus on single-domain assessments and direct medical costs to the healthcare system, and do not account for most of the economic, health, and social impacts experienced in rare diseases. We take a broader perspective by assessing the effects of multiple aspects of a rare disease, generalized myasthenia gravis (gMG), on patients and caregivers.

METHODS: This observational study was performed to assess the impact of gMG on patients and caregivers. Participants were patients with acetylcholine receptor antibody-positive gMG and caregivers who provided patients with unpaid support. The interviews were coded and qualitatively analyzed to summarize the key points raised by participants. The resulting impacts were categorized by impact domains and subcategorized by impact elements.

RESULTS: Data from 28 participants were included in the analysis (16 patients and 12 caregivers). Overall, 44 gMG impact elements were identified, and many of the same impact elements were reported by patients and caregivers. Impact elements were categorized into eight domains, consisting of occupation, financial, emotional health, physical health, sleep, social, planning and autonomy, and safety Patients often described gMG as an “invisible disease” and expressed concerns about being a burden to those around them. Caregivers expressed guilt when describing the negative impacts of gMG on their lives and tried to “look on the bright side”.

CONCLUSIONS: The impact of gMG is broad and goes beyond the healthcare system. Patients and caregivers are affected in multiple ways, which contrasts to the single-domain assessments typically used in clinical trials. Payers and funding agencies for research should comprehensively assess the burden of disease, from multiple stakeholder perspectives, during the development of gMG benefit coverage and utilization review guidelines, and in individual reimbursement decisions.