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

WHY IT MATTERS

If you or a loved one has a rare disease, this research validates that the emotional and mental health challenges you face during diagnosis and treatment are real and documented — and highlights why doctors should screen for depression and anxiety as part of rare disease care.

This research review looked at how mental health problems and rare diseases are connected, especially during the long process of getting diagnosed. Researchers found four main themes: patients struggling with hope and hopelessness, confusion about their identity, feeling alone or connected to others, and difficulty accessing mental health services that understand rare diseases. The study shows that mental health care and rare disease care need to work better together.

Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis. Abstract: To explore what is known about the intersection of mental health and rare diseases. Narrative review with peer-reviewed literature from 2009 onwards. 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. 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. The narrative review highlighted the complex intersection and p Authors: Wu et al. Journal: Nursing open MeSH: Humans, Rare Diseases, Mental Health, Mental Disorders