A new publication in the Orphanet Journal of Rare Diseases highlights the urgent need for improved psychosocial support for people living with rare diseases.
The paper, “Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study,” reports on the Rare Together Workshop held in Nijmegen, the Netherlands, in May 2023.
This two-day meeting, supported by ERN eUROGEN and funded by the European Joint Programme for Rare Diseases (EJP RD), brought together 23 experts from seven European countries—including clinicians, therapists, researchers, and a patient representative—to identify the most pressing psychosocial needs and priorities for future research.
Using a structured Nominal Group Technique (NGT), the group agreed on 57 psychosocial needs, which were categorised according to Picker’s eight principles of patient-centred care. Emotional support, access to care, and family and partner involvement emerged as key themes. The participants also set out six future research directions, including:
- fostering international collaborations
- promoting inclusivity (including patient representatives, ethnic minorities, and older adults)
- translating psychosocial models from more common conditions
- and ensuring stronger representation of patient voices.
The authors call for psychosocial vulnerability to be firmly embedded in healthcare policies and research agendas, recognising that 94% of rare diseases still lack an approved medical treatment. Supporting mental health and social wellbeing is therefore essential to improving quality of life for people living with a rare condition and their families.
The publication concludes with a clear call to action: to integrate psychosocial care into rare disease services, expand international collaboration, and secure sustainable investment in mental health support.
