Exploring patients' and caregivers' experience of therapeutic patient education in rare diseases: A qualitative study

Therapeutic Patient Education (TPE), defined in the French Public Health Code, is part of the healthcare pathway, aiming to enhance autonomy, treatment adherence, and quality of life. TPE programmes are structured, person-centred processes helping patients with chronic diseases self-manage their health. For patients with rare diseases (RD) and their caregivers, specialised TPE is essential to anticipate lifelong disruptions and provide support in contexts of vulnerability and isolation.

This qualitative study involved 23 one-hour semi-structured interviews with 12 RD adult patients and 11 adult caregivers in France between January and May 2023, recruited through RD networks and patient organisations. Interviews explored participation context, expectations, satisfaction, and difficulties. Data were analysed using NVivo to identify recurring themes. Participants reported improved understanding of their RD and treatments, psychological and social well-being, and autonomy through TPE. Key themes included preference for face-to-face sessions for human interaction, though remote sessions offered practical benefits. The study highlighted diagnostic odyssey, emotional impact of diagnosis, and need for psychological support. Challenges included recruitment biases, geographical barriers, and insufficient communication about TPE. Participants emphasised TPE's role in improving their acceptance and management of the disease, transforming relationships with healthcare providers and reducing isolation.

TPE addresses medical and psychosocial needs of patients with RD and caregivers, enhancing participation and quality of life. Face-to-face sessions are preferred, but remote options improve accessibility. Given the qualitative design, heterogeneity of RD and recruitment bias, findings are not fully generalisable. Future efforts should improve communication, involve patient organisations, and integrate caregivers for holistic care.