Living with a rare disease: Why lived experience must shape research.

Whyatt, Gemma; Whitehouse, Jodi · PLoS Med · 2026

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Abstract

Rare diseases are often defined by numbers and clinical perspectives, a narrative that needs re-writing. Drawing on decades of patient advocacy, two women living with the rare condition Congenital Melanocytic Naevus argue that lived experience must shape research from the outset, and discuss how genuine patient-researcher partnership transforms science, care and identity.

Medical subject headings