Extracts from a new Lancet article and a comment from me below.
CITATION: Language in rare disease: a call for systemic and empathetic action. Gareth Baynam et al
Lancet, Volume 407, Issue 10535 p1216-1218 March 28, 2026
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(26)00359-4/fulltext?dgcid=raven_jbs_etoc_email
Globally, an estimated 300 million people live with a rare disease. They typically experience isolation, diagnostic difficulties, lack of therapies, fragmented care, stigma, a struggle for recognition, and the requirement to become experts in their condition—factors that all fundamentally tie back to rarity...
People with a rare disease and their families are the ultimate authorities on their illness. Their community knowledge, which is often shared in support groups and online forums, usually precedes formal clinical recognition of rare disease patterns and treatment responses...
Language of rare disease concepts can be improved by championing kind language, respecting ancient knowledges and ways of knowing, insisting on nosological accuracy, defining terms carefully, and embracing culturally respectful narrative translation...
Recommended priority actions to improve use of language concepts and style in rare disease:
• Mandate training in empathetic, person-centred, and family-centred communication and deep listening that embraces lived experience expertise for all clinicians working with people and families living with rare disease.
• Formally integrate lived experience expertise with an equal mandate and authority in clinical governance and research frameworks (lived experience experts).
• Accelerate global adoption of standardised, interoperable disease classifications and ontologies (eg, International Classification of Diseases 11th Revision amendments specific to rare disease and ORPHAcodes) to eliminate coding barriers.
• Promote the use of the Operational Description of Rare Diseases and deliver an Operational Description of Undiagnosed Rare Diseases to streamline policy and resource allocation.
COMMENT (NPW): HIFA would welcome the possibility to host a discussion on these issues, especially around knowledge translation and meeting the information needs of patients, carers and health workers. www.hifa.org/projects
HIFA profile: Neil Pakenham-Walsh is coordinator of HIFA (Healthcare Information For All), a global health community that brings all stakeholders together around the shared goal of universal access to reliable healthcare information. HIFA has 20,000 members in 180 countries, interacting in four languages and representing all parts of the global evidence ecosystem. HIFA is administered by Global Healthcare Information Network, a UK-based nonprofit in official relations with the World Health Organization. Email: neil@hifa.org