It’s my genetic make-up, part of me, who I am. A psychotherapeutic exploration into the experiences of female fragile X premutation carriers : an interpretative phenomenological analysis

Authors

Kacperski, Tania

Issue Date

2015

Degree

MA in Psychotherapy

Publisher

Dublin Business School

Rights

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Abstract

The completion of the Human Genome Project (HGP) and the on-going advances in genetic science mean that more people will become aware of their genetic risk. While the ‘lived experience’ is increasingly acknowledged as being significant to wellbeing, it is often overlooked in genetic medicine. This study presents a deeper understanding into the nature of genetic illness by illuminating the world of experience and by exploring the question of meaning in relation to carriers of a genetic mutation on the fragile X gene (FMR1), which is responsible for a family of disorders (FXD) including fragile X syndrome (FXS). A psychological approach to genetic counselling has evolved to meet the needs of those confronting genetic risk yet significant challenges in genetic counselling have been identified which suggests a deficit in the care available to genetic carriers. Three individuals, all female fragile X carriers diagnosed at least three years before the time of the study, were invited to participate in semi-structured interviews. An Interpretative Phenomenological Analysis (IPA) was used to elicit a nuanced analysis of individual narratives and, using an Object Relations framework the study examines the implicit meaning of a fragile X diagnosis thus illustrating how a diagnosis of a genetic condition might manifest in the psyche. The study found that an FXS diagnosis in their children was experienced as deeply traumatic for the participants and the feeling of unconnectedness was experienced in their journey within an unresponsive medical system, thereby exacerbating the trauma. The study suggests that anxiety arising out of a genetic diagnosis, which is experienced as a trauma, cannot be fully understood without the acknowledgement of the unconscious processing of loss. The study addresses the paucity of psychotherapy research into the experiences of genetic carriers and offers new insight into genetic disease. The study recommends additional psychotherapeutic support in the clinical setting for those confronting genetic illness as well as further research using other psychotherapy frameworks to explore the experiences of genetic carriers. Author keywords: Fragile X, genetic carriers, object relations, genetics, psychotherapy