Challenge not crisis : an exploration of the role of genetic counselling for Turner syndrome, using an 'across the life span' approach, enabling families and individuals to meet the challenge

Abstract

An exploratory pilot study was conducted to identify specific experiences, perceptions and challenges of participants affected by Turner Syndrome in Hong Kong. It was important to discover how issues concerning fertility, menstruation, ovarian function and ovarian insufficiency and hormone replacement therapy, which are important to these women have impacted their psychosocial wellbeing, psychosocial experiences and their relationships. An ‘across the life span’ approach was used to explore significant issues at various stages or ‘moments’ of their lives, and which they perceive to be important to family and the Chinese culture. The findings of this study has implications for the role of genetic counselling in Turner Syndrome in Hong Kong, to facilitate individuals and their families to meet the challenge. When parents make prenatal decisions for the continuation of pregnancy of a fetus with Turner Syndrome, the quality of genetic counselling is considered to have direct effect on the decision making and continuance of pregnancy. Previous literature indicated that critical criteria for decision making during the prenatal period includes the potential future fertility of the fetus. These issues concerning fertility of patients with Turner Syndrome were explored in this study, in addition to a review of the existing literature. Methodology This was a study of qualitative research, using semi structured interviews. Triangulation techniques were employed in order to gain a rich insight into the care of patients with Turner Syndrome in Hong Kong. For this report, four participants were recruited, who were existing patients of the Department of Reproductive Medicine clinic in Queen Mary Hospital. Each consented to an in depth interview concerning their experiences and challenges of Turner Syndrome in Hong Kong. The narrative of the interview was analysed according to the themes which emerged. A review of medical notes of the participants from the Department of Reproductive Medicine clinic in Queen Mary Hospital, Hong Kong was also conducted. Results Of the participants included in this analysis, one individual with classical features of Turner Syndrome had a 45, X karyotype. The remaining three participants were cytogenetically diagnosed with a mosaicism for Turner Syndrome. It was anticipated that the knowledge gained would improve the provision of information and care by the genetic counsellor and medical practitioner, for patients or parents at initial diagnosis and across their lifespan. The study participants were able to provide rich body of data allowing insight into their lives, experiences and challenges. The pregnancy losses that they have endured, and the hope that all four individuals sustain became evident with each interaction. Significance This study has shown that patients require an in depth knowledge of their condition. They trust the medical professionals who care for them, and their care should be managed with continuity ‘across the life span’ by carers who are experts in Turner Syndrome. Their need for establishment of support groups, and a continuing support structure is essential to their well-being and their psychological health. This is a unique study in Hong Kong with these issues having not been explored previously.