Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis

AIM: To explore what is known about the intersection of mental health and rare diseases. DESIGN: Narrative review with peer-reviewed literature from 2009 onwards. METHODS: The study searched for literature on these databases in September 2024: CINAHL, Scopus, Pubmed, Medline, Embase, and PsycInfo, as well as citation chaining and supplementary searches on Google Scholar. A combination of MeSH headings, keywords, truncations, and proximity searches with Boolean operators was used. RESULTS: Relevant literature highlighted four themes that underpinned the intersection of mental health and rare diseases: (1) hope and hopelessness, (2) identity formation and conflicts, (3) connection and disconnection, and (4) access, advocacy, and a lack of service integration. CONCLUSION: The narrative review highlighted the complex intersection and poor integration of mental health and rare diseases, where distress and uncertainty are core aspects of the living experience. Despite challenges, hope and resilience persevere. IMPLICATIONS: Better understanding of the connection between mental health and rare diseases allows for holistic patient care. It raises awareness for the need for increased proactive mental health services and highlights shared experiences of a broad community. This allows systemic changes to be more feasible and help improve patient outcomes. IMPACT: This narrative review deepens knowledge of the complex connections between mental health and rare diseases through a lived experience lens, opening pathways for further research into the unique but shared struggles of the community. Emphasising the need for holistic disease management of physical and psychosocial impacts, nurses and healthcare workers alike are then better equipped to provide tailored care. PATIENT OR PUBLIC CONTRIBUTION: There was no patient or public contribution to this paper as the review utilised existing studies and research in the academic field.