Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives.

introductionNeuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non-medical expenses. While cost-of-illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain. This study aims to identify the complex, often hidden, financial impacts experienced by individuals with NMDs and their families.

methodsWe conducted a qualitative study involving four virtual semi-structured focus groups, with 58 participants (76% patients and 24% caregivers). Participants were recruited from Muscular Dystrophy Canada's database and had previously completed the national BIND COI survey. Participants shared firsthand accounts of direct non-medical costs, psychosocial burdens and opportunity costs, highlighting hidden expenses, substantial out-of-pocket costs, and the broader financial and emotional toll on families. Thematic analysis of the transcripts of the discussions was performed using an inductive approach, guided by a rare-disease-specific socio-economic burden framework.

resultsFour key themes emerged: informational costs (lack of awareness/support for navigating financial resources), time-related costs (time spent advocating for supports), opportunity costs (loss of income or career advancement), and costs to independence (emotional toll and out-of-pocket costs for assistive devices and home modifications).

conclusionThis study identified four interconnected categories of hidden costs for people with NMDs and their families: informational burdens, administrative and advocacy demands, employment-related opportunity costs, and reduced independence tied to out-of-pocket spending on equipment and home modifications. These findings reveal how financial and emotional pressures accumulate beyond what traditional COI estimates capture. Greater attention to these costs is critical for fostering equitable and sustainable healthcare systems. PATIENT OR PUBLIC CONTRIBUTION: This study was designed and conducted in partnership with individuals living with NMDs and caregivers. Three trained patient and family research partners contributed to the development of the focus group guide and interpretation of results. All participants contributed their lived experiences to inform and validate key findings. Their input was central to the design, analysis and preparation of this manuscript, ensuring alignment with community priorities.