Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis.
Eileen Wu, Sophie Isobel, Paul Beckett
PMID 41928379WHAT IT FOUND
People living with rare diseases described distress, stigma and fragmented care during the diagnostic odyssey, alongside resilience and hope.
Nurses should ask about mental health, explain uncertainty, and coordinate care rather than leaving it to patients.
Key findings
01Participants described anxiety, loss and hopelessness, and said visible symptoms added to shame, low self-esteem and despair.
02Dismissive clinicians and stigma during the diagnostic odyssey were described as leading to mistrust and avoidance of mental-health support.
03Close relationships and empathetic, open communication were described as helping people feel understood, respected and supported.
STILL TO COME
How it was doneWhat they foundWhat it means for RNs
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What it does not show
This is a narrative review, not a systematic review or meta-analysis, so it gives an interpretive account rather than a measured treatment effect. Only 12 articles were included, and some were letters, case reports or editorials, so the evidence base is small and uneven. One author screened articles, which can introduce selection bias. The included studies were from several countries and published over a long period, so service contexts and current practice differ. Rare diseases are very numerous, and the review may reflect more well-known conditions rather than all rare diseases. Some paediatric accounts may have been shaped by caregiver perspectives, even though caregiver-only studies were excluded. Because only academic databases were searched, lived-experience writings outside academic publishing may have been missed.
Declared interests
The authors report nothing to report and declare no conflicts of interest.
The easy way to misread this
Do not read this review as proof that a specific communication, coordination or mental-health intervention improves outcomes. It synthesises patient accounts and themes, not measured treatment effects.