Diagnosing rare diseases and mental well-being: a family’s story

Author:

Zhang Zheqing

Abstract

AbstractWhen we experience symptoms, most of us walk into the clinic or hospital expecting immediate answers. For individuals with a rare condition, the path to diagnosis can be tortuous, involving months to years of waiting and a seemingly interminable search for answers. All this while, physical and psychological stress can negatively impact mental health. Each diagnostic journey is unique, but they epitomise common themes and inadequacies of the medical system. This article presents the stories of two sisters whose diagnostic journeys diverged then converged, reflecting on the impact of these experiences on mental well-being and what we can learn going forward. Hopefully, with more research and knowledge, we can catch these conditions earlier and provide better recommendations for treatment, management and prevention.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference16 articles.

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2. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165–73.

3. Harrison K. New report reveals that, while undiagnosed, rare disease patients have cost the NHS in excess of £3.4 billion [Internet]. Imperial College Health Partners. 2018 [cited 2023 Feb 6]. Available from: https://imperialcollegehealthpartners.com/new-report-reveals-undiagnosed-rare-disease-patients-cost-nhs-excess-3-4-billion/.

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