The lived experience of haemophilia and impact of gene therapy on the haemophilia patient community and their families : the Exigency programme
Gene therapy has the potential to change the lives of people with haemophilia, offering, if not a complete cure, then a significant reduction in treatment burden and an improvement in overall quality of life. Little is known, however, about the lived experiences of those who have undergone gene therapy or the impact on the haemophilia community and their families. The Exigency programme is the first comprehensive study to examine these psychosocial aspects. The nine papers presented here as evidence for this PhD by Published Work are the results of a five-year mixed methods study programme examining the experiences of 69 participants across five distinct cohorts: those who had undergone gene therapy, those who do not want it, those who had withdrawn or were withdrawn from trials, those who have not yet been offered therapy, and parents of children with haemophilia. Data were collected through interviews, focus groups, and surveys. Three main themes were identified. Safety and efficacy concerns dominated many of the discussions across all the cohorts, especially regarding the side effects of immunosuppressive medication and treatment durability. Identity also emerged as a key factor, with some considering their haemophilia an essential part of their sense of self, leading to complex responses to the idea of a "cure." Expectations varied widely; some saw gene therapy as transformative, while others felt it increased rather than reduced their treatment burden. The programme, therefore, highlights significant unmet psychosocial needs that have not been previously recognised or addressed. All papers have been published in specialised journals and have directly influenced clinical practice guidelines, highlighting the need for wide-ranging psychosocial support throughout the gene therapy journey. The research also demonstrates that the impact of gene therapy extends beyond just clinical outcomes, affecting individual and family identity, relationships and quality of life.
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