Language in rare disease: a call for systemic and empathetic action.

# Language in rare disease: a call for systemic and empathetic action *The Lancet 2026* Comment Language in rare disease: a call for systemic and empathetic action Published Online Globally, an estimated 300 million people live with a rare a therapeutic alliance built on trust.5 Conversely, poor February 26, 2026 disease. They typically experience isolation, diagnostic communication can lead to patient dissatisfaction, https://doi.org/10.1016/ S0140-6736(26)00359-4 difficulties, lack of therapies, fragmented care, stigma, a treatment non-adherence, and increased use of health- struggle for recognition, and the requirement to become care resources due to ineffective referrals,6 ultimately experts in their condition—factors that all fundamentally exacerbating emotional stress and adversely affecting tie back to rarity.1,2 As Commissioners for the Rare the future health journey.5,7 Diseases International (RDI)–Lancet Commission on Rare People with a rare disease and their families are the Diseases,3 representing a breadth of stakeholders with ultimate authorities on their illness. Their community lived experience and professional expertise, we believe knowledge, which is often shared in support groups a profound shift is needed in how health-care providers and online forums, usually precedes formal clinical use language within the rare disease ecosystem. recognition of rare disease patterns and treatment Physicians, nurses, and allied health professionals must responses. Their understanding is comprehensive, better implement changes in clinical communication, embracing the daily reality of living with a rare disease.8 standardised terminology, and cultural safety and The pervasive tendency within the clinical community responsiveness. to dismiss this expertise as purely anecdotal devalues a When a person receives a rare disease diagnosis their crucial evidence base.9 Patient experiences are a primary personal narrative is irrevocably altered, with immense source of information for many people living with a rare emotional and psychological impacts for individuals disease for which data are scarce. Clinicians must adopt and families.4,5 The language used by clinicians in these language that respects and validates partnership with sensitive moments can either build a bridge or erect patients and families as equals, formally integrating a wall. Kind language—empathetic, person-centred, lived experience narratives into the fabric of care and family-centred, and non-stigmatising—is the first pillar research.9,10 Formalising roles such as lived experience of ethical engagement and a therapeutic imperative. experts or patient partners in research design and A diagnosis delivered with compassion and clarity clinical guideline development moves beyond rhetoric can be a moment of validation, empowerment, and to structural change; this approach improves research reduced uncertainty, supporting a pathway forward in quality and makes studies and their outcomes more relevant to patients’ needs.11–13 Panel: Recommended priority actions to improve use of The challenge, and opportunity, of language in the language concepts and style in rare disease: rare disease ecosystem extends to respecting language • Mandate training in empathetic, person-centred, and embedded in oral traditions and supporting translation family-centred communication and deep listening that across linguistic and cultural boundaries so that embraces lived experience expertise for all clinicians complex biomedical narratives can be translated into working with people and families living with rare disease. culturally resonant concepts. For instance, to improve • Formally integrate lived experience expertise with an equal mandate and authority in clinical governance and communication between health-care workers and research frameworks (lived experience experts). patients who speak Indigenous languages, explanations • Accelerate global adoption of standardised, interoperable of genetic inheritance for Aboriginal Australian disease classifications and ontologies (eg, International communities have been powerfully reframed using Classification of Diseases 11th Revision amendments the concept of Songlines—the intricate oral maps that specific to rare disease and ORPHAcodes) to eliminate coding barriers. describe pathways across the land, encoding knowledge, • Promote the use of the Operational Description of Rare law, and ancestry through stories and songs.14 This Diseases and deliver an Operational Description of narrative alignment respects cultural norms and Undiagnosed Rare Diseases to streamline policy and makes complex science meaningful and resonant with resource allocation. enduring worldviews. 1216 Comment Parallel to respecting the lived experience narrative is in the naming of the Fragile X gene and protein led to the need for precise and tailored language in rare disease calls for change by patient advocacy groups who have definitions, terminologies, and disease-coding. The driven reforms to stigmatic terminology.22 Standardised definition of rare disease varies internationally.15 Most ontologies, such as those used in Orphanet and the existing definitions are based on prevalence or historically Human Phenotype Ontology database, are essential were set up to provide incentives for drug development. translation tools that allow a unique, personal story to However, most rare diseases do not have, and might be recognised and acted upon by global health-care and never have, treatments; consequently, it is necessary to research infrastructures.23,24 look beyond a definition that was designed for regulatory Language about rare disease is a powerful—but purposes16 so as to support appropriate resource underused—lever for change. Language of rare disease allocation for interventions across the lived experience concepts can be improved by championing kind of rare disease. To address this issue a multistakeholder, language, respecting ancient knowledges and ways of global panel of rare disease experts came together and knowing, insisting on nosological accuracy, defining developed an Operational Description of Rare Diseases.16 terms carefully, and embracing culturally respectful This reference describes which diseases are considered narrative translation. This change requires harmonised rare, how many people are affected, and why the rare multistakeholder action from clinicians, researchers, disease population demands specific attention.16 The policy makers, and lived experience advocates who Operational Description of Rare Diseases incorporates collectively hold the power to reshape the narrative the concept of “collective commonality” in prevalence architecture of rare disease. Recommended priority and common challenges shared across the diversity of actions are provided in the panel. rare disease communities16–18 so that the cumulative All authors are Commissioners of the RDI–Lancet Commission on Rare Diseases. burden of rare disease is visible, resources can effectively GB is a member of the scientific and medical advisory committee of Rare Voices Australia, Australian Peak Group for Rare Diseases, a clinical advisory member of target the cross-cutting challenges, and no one living Rare Disorders New Zealand, Peak Group for Rare Disorders in New Zealand, and a a scientific and ethical advisory member of Rare Disease Centre (RareBoost) with a rare disease falls through gaps. Similarly, and Turkey. KJ has received travel or meeting support from EURORDIS, RDI, World noting the majority of persons living with a rare disease Orphan Drug Congress, Fragile X Society UK, and Rare Disease Research UK Platform Advisory Group and is the Chair of Fragile X International and a are undiagnosed, there is no international consensus voluntary Board member of EURORDIS, Council member of RDI Current, and definition of “undiagnosed” rare disease to deliver cohort adviser to Screen4Care on the Newborn Screening forum. LM is employed by Medics4RareDiseases (M4RD) and M4RD has received grants and sponsorship visibility and inform and assess diagnostic interventions.19 from commercial companies (Alexion, Amicus, Alnylam, BioMarin, BioCryst, Implementing the Operational Description of Rare Bionical Emas, Emotive, Chiesi, Gilead, Kyowa Kirin, Orchard, PTC Therapeutics, Sanofi, SOBI, Takeda, UCB, Healx, and Novartis) and has received grants from Diseases, and delivering an international consensus charitable trusts (Forrester Family Trust, The Grace Trust, The Hammelis Trust, definition of undiagnosed rare disease is crucial. The James Tudor Foundation, The Kenneth Hargreaves Charitable Trust, The Newby Trust, The RKT Charitable Trust, and The Souter Charitable Trust). M4RD has been current primary challenges to this are insufficient paid consulting fees by Alexion, Amicus, Alnylam, Sanofi, UCB, Takeda, NHS awareness of the Operational Description of Rare Diseases England, and Medscape Education. LM has received speaker fees from Health Education and Innovation Wales and through M4RD; has received support for and the lack of a dedicated project that addresses attending meetings and/or travel from EURORDIS, and the European World defining undiagnosed rare disease in a way similar to the Orphan, Drug Congress 2023; and participates unpaid on behalf of M4RD for the UK Rare Diseases Framework Forum, UK Government’s Department of Health Operational Description of Rare Diseases. and Social Care. KMB reports support from RDI for the Secretariat of the RDI– The inconsistent use of disease names, outdated Lancet Commission on Rare Diseases. classifications, and lack of sufficient codes for rare *Gareth Baynam, Kym M Boycott, Kirsten Johnson, disease in systems that are vital to health-care planning, Lucy Mckay such as the International Classification of Diseases, gareth.baynam@health.wa.gov.au obscures the true prevalence of rare diseases, impedes Rare Care Centre, Perth Children’s Hospital, Perth, WA 6009, Australia (GB); Faculty of Health and Medical Sciences, University of Western Australia, Perth, access to treatments and services, and limits research WA, Australia (GB); Children’s Hospital of Eastern Ontario Research Institute, coordination.20,21 Implementation of improved rare University of Ottawa, Ottawa, ON, Canada (KMB); Rare Diseases International, La Platforme Maladies Rares, Paris, France (KJ); Medics for Rare Disease, disease coding is imperative and requires health system Buckinghamshire, UK (LM) prioritisation and resourcing. Furthermore, some 1 Danese ES, Lippi G. Rare diseases: the paradox of an emerging challenge. Ann Transl Med 2018; 6: 329. gene names and clinical terms have historically been 2 Chung C, Chu A, Chung B. Rare disease emerging as a global public health offensively named. For example, the use of “retardation” priority. Front Public Health 2022; 10: 1028545. Comment 3 Boycott KM, Giugliani R, Commissioners of the RDI–Lancet Commission on 13 Gentilini A, Miraldo M. The role of patient organisations in research and Rare Diseases. The RDI-Lancet Commission on Rare Diseases: improving development. Soc Sci Med 2023; 336: 116244. visibility to address health-care disparities for 400 million people. Lancet 14 Lyfe Languages. About: translating medical terms into Indigenous languages. 2025; 405: 605–07. 2025. https://www.lyfelanguages.org/ (accessed Jan 10, 2026). 4 EURORDIS. Mental health and wellbeing toolkit: reaching beyond rare. 2025. 15 Abozaid GM, Kerr K, McKnight A, Al-Omar HA. Criteria to define rare diseases https://mhtoolkit.eurordis.org/ (accessed Jan 10, 2026). and orphan drugs: a systematic review protocol. BMJ Open 2022; 12: e062126. 5 Kenny T, Bogart K, Woodman D, et al. The importance of psychological 16 Wang CM, Whiting A, Rath A, et al. Operational description of rare diseases: a support for parents and caregivers of children with a rare disease at diagnosis. reference to improve the recognition and visibility of rare diseases. Rare Dis Orphan Drugs J 2022; 1: 7. Orphanet J Rare Dis 2024; 19: 334. 6 Haribhai-Thompson J, McBride-Henry K, Hales C, Rook H. Understanding of 17 Fehr A, Prütz F. Rare diseases: a challenge for medicine and public health. empathetic communication in acute hospital settings. BMJ Open 2022; J Health Monit 2023; 8: 3–6. 12: e063375. 18 Adachi T, El-Hattab AW, Jain R, et al. Enhancing equitable access to rare 7 EURODIS. Outline position paper on mental health and wellbeing: disease diagnosis and therapy: a global challenge. a position paper by EURORDIS and its members on behalf of rare disease Int J Environ Res Public Health 2023; 20: 4372. community in Europe. June, 2024. https://download2.eurordis.org/ 19 Baxter MF, Hansen M, Gration Dl, Groza T, Baynam G. Surfacing undiagnosed mentalwellbeing/Eurordis-Position-Paper-Mental-Health-2024.pdf disease: consideration, counting and coding. Front Pediatr 2023; 11: 1283880. (accessed Jan 10, 2026). 20 Fiore K. Expanding ICD codes may aid rare disease patients. MedPage Today. 8 Velvin G, Hartman T, Bathen T. Patient involvement in rare diseases research: March 2, 2023. https://www.medpagetoday.com/special-reports/ a scoping review of the literature and a survey of Norwegian researchers’ features/103354 (accessed Jan 10, 2026). experiences. Orphanet J Rare Dis 2022; 17: 212. 21 Aymé S, Bellet B, Rath A. 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