Patients with rare neuromuscular diseases are a scattered community, often dispersed, and poorly represented. The past 10 years have seen an improvement of care and an increased interest in developing research for rare neuromuscular diseases. There are now several new potential therapeutic approaches developed and tested in clinical trials and the first new treatments are becoming available in the US and EU.
However, we know very little about the impact of neuromuscular diseases on the education and employment of patients and carers. These aspects can have a significant impact on quality of life and could play a role in the assessment of access to treatment and HTA requirements, if and when treatment becomes available. We therefore need a better understanding of the psychosocial impact of the disease on patients and their families and caregivers.
Information provided directly by patients and their caregivers will allow us to understand the impact of rare neuromuscular diseases on employment and educational opportunities for patients and families living with a rare neuromuscular disease.