“If I go down, if I crumble, then everybody does” — identity crisis and emotional strain in parents of children with rare and undiagnosed conditions: a qualitative study

Orphanet Journal of Rare Diseases

卷:21

Research

Tara Maria Hoffmann¹  Bettina Friedrich¹  Celine Lewis¹ 

[1] Population, Policy and Practice Department, UCL Great Ormond Street Institute of Child Health, London, UK

关键词: Rare condition;    Undiagnosed condition;    Mental health;    Emotional wellbeing;    Parent caregivers;    Uncertainty;    Genomic sequencing;    Psychological counselling;    Psychosocial insights;    Family dynamics;   

DOI  :  10.1186/s13023-026-04384-5

 received in 2024-10-14, accepted in 2026-04-19,  发布年份 2026

来源: Springer

【 摘 要 】

BackgroundCaring for a child with a rare condition can significantly impact parents’ emotional health, yet research on the emotional impact is limited. This qualitative interview study sought to investigate the lived experiences of parents who are experiencing higher psychological burden. Participants were parents of undiagnosed children undergoing whole genome sequencing (WGS) through the Genomic Medicine Service (GMS) across multiple NHS sites in England. Parents were purposively sampled to select those scoring poorly on validated measures of anxiety, family impact and/or resilience (GAD-7, PedsQL family functioning, BRS). We interviewed 24 parents after testing but prior to the return of WGS results. Questions focused on understanding their lived experience, in particular the emotional impact of their child’s condition and how they coped day-to-day.ResultsSemi-structured interviews were transcribed and analysed using reflexive thematic analysis, leading to the generation of the central organising concept: “The construction of a caregiver identity: Torn between being a ‘hero(ine)’ and being a parent.” Parents’ experiences as caregivers often involved a significant re-evaluation of their parental role, as they sought to provide love and support while also adjusting to changes in their envisioned family life. Societal expectations, along with the complex challenges of navigating the health and social care systems, contributed to emotional strain. In particular, mothers often adapted their personal identities to embody a ‘heroic’ caregiving role. The anxiety caused by the uncertainty surrounding their child’s condition was also found to affect parents’ mental health. Areas for psychological interventions and recommendations to support parents’ mental health are identified.ConclusionsFurther research is needed to explore how the return of genomic sequencing results impacts parents’ emotional wellbeing, and whether and which psychological counselling modalities throughout the journey might reduce emotional distress.Clinical trial numberNot applicable.

【 授权许可】

CC BY   
© The Author(s) 2026

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