Diagnostic disclosure in Turner Syndrome: a qualitative exploration of the experiences and needs of individuals living with Turner Syndrome and family members

Clarke, Emma Louise (2023) Diagnostic disclosure in Turner Syndrome: a qualitative exploration of the experiences and needs of individuals living with Turner Syndrome and family members. Doctoral thesis (Degree of Professional Doctorate), Manchester Metropolitan University.

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Abstract

Background: Approximately 7,000 genetic conditions affect 1-2% of the UK population. Studies on the biological causes abound in the literature, whereas research on the psychosocial impact remains scarce. Diagnostic disclosure has been gaining attention due to the significant impact it can have on those affected by genetic conditions. This thesis focuses on the diagnostic disclosure of genetic conditions and places a particular focus on Turner Syndrome (TS), which affects approximately 1 in 2,500 live female births. The author of this thesis is an individual living with TS and carried a special interest in exploring this area topic. Aims and objectives: First, we aimed to map current knowledge on experiences of diagnostic disclosure of genetic conditions, from the perspectives of those affected by diagnosis. We focused broadly on genetic conditions due to the significant paucity of studies in TS. Second, we aimed to explore the experiences and needs of individuals living with TS and their parents around diagnostic disclosure. The final aim of the study was to provide recommendations for future researchers by critically reflecting on lessons learnt from conducting a study on a condition of which the author has lived experience. Methods: A mapping review was conducted through a systematic search for peer-reviewed studies in 6 electronic databases. Semi-structured interviews were then carried out with 16 individuals living with TS and 8 parents. Data were transcribed verbatim and analysed using inductive thematic analysis. Finally, the author provided critical reflections on her role as a researcher with lived experience of TS and how this may have influenced the research processes of the original study. Emphasis was placed on the author’s positionality, prior knowledge and experience of disclosure, and the emotional impact of studying her own condition. Results: Findings from 12 studies included in the mapping review showed that openness and gradual information sharing facilitated disclosure and adapting to living with a genetic condition. Collaborative approaches between healthcare professionals and service recipients enabled positive experiences of disclosure, while fear of stigma acted as a barrier. Analysis of interviews yielded 3 major themes representing participants’ experiences and needs: ‘Guardianship of disclosure’, ‘Coping with infertility’ and ‘Awareness of Turner Syndrome and its impact’. Individuals with TS preferred to learn about the diagnosis and take ownership of disclosure early on. Fear of the impact of infertility prevented parents from disclosing the diagnosis to their children. Strengths-based approaches may prevent stigma and enable those affected to receive empowering advice and support. The author’s reflections indicate that the ‘total insider’ position may need to be negotiated with participants before being established. Reflexivity and PPI input are necessary to ensure rigor and representativeness of findings. Pastoral and peer support may facilitate maintaining the researchers’ emotional wellbeing when conducting research into one’s own condition. Conclusions: Our findings provide novel insights into the condition-specific context of TS diagnostic disclosure and can inform recommendations for healthcare professionals and third-sector organisations. The lessons learnt can be useful for researchers conducting qualitative research in a condition of which they have lived experience.