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Updated: Aug 7, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Diagnosing rare diseases and mental well-being: a family's story
1Medical Sciences Division, University of Oxford, Oxford, UK. zheqing.zhang@exeter.ox.ac.uk.
Abstract:
When 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.
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