The views of women with bleeding disorders: Results from the Cinderella study.

INTRODUCTION: Despite therapeutic advances in bleeding disorder treatment, over the past 20 years women with bleeding disorders have reported delayed diagnosis, impaired quality of life, dismissive attitudes from health professionals and inappropriate care. AIM: To explore the lived experience of women with a diagnosed bleeding disorder and to improve understanding of their unmet needs. METHODS: Women haemophilia carriers (WHC), women with a diagnosed bleeding disorder (WBD) and women with immune thrombocytopenia (WITP) were invited to complete an online survey. Those who indicated a willingness to be interviewed took part in a focus group or one-to-one interview to further explore their lived experiences. RESULTS: Two hundred and eighty women completed the survey (126 WHC, 96 WBD, 58 WITP) 13 women (seven WHC, three WBD, three WITP) participated in a focus group (11) or individual interview (2). The most frequently reported symptoms were heavy periods (81%) and bruising (81%). Compared to the group as a whole, more WBD took time off work or school due to symptoms, had discussed symptoms with a healthcare professional (HCP), and had seen a nurse or gynaecologist. WHC were least likely to be screened for a bleeding disorder or seen in a specialist setting. Themes discussed included difficulty obtaining a diagnosis, lack of awareness amongst and poor communication from HCPs, stress and anxiety, coping strategies and sources of support. CONCLUSION: Many of the experiences described by women with bleeding disorders 20 years ago remain prevalent. Healthcare provision needs to change to offer them better treatment and support.

Parental perspectives on gene therapy for children with haemophilia: The Exigency study.

INTRODUCTION: Gene therapy is used in life-limiting conditions of childhood. While not a current therapeutic option for children with haemophilia, it may be considered in the future especially for those where access to treatment is limited. AIM: To assess the attitudes and opinions of parents of children with haemophilia about gene therapy as a potential future treatment, by understanding their awareness about gene therapy and what they need to know now and in the future; gauging levels of interest in gene therapy for their children; and exploring perceived current motivations and barriers. METHODS: A mixed methods study with an online questionnaire and in-depth qualitative interviews in focus groups which were analysed using thematic analysis. RESULTS: One hundred and fifty-eight participants commenced the online survey; 63 were fully completed (39%). 60 had heard of gene therapy but few (17/60 [28.3%]) felt they had a good understanding. 38/60 (63.3%) respondents did not know that gene therapy is not available for children. However, most held positive views: 53/60 (88.3%) saying they would consider it for their child. In the interviews, participants (N = 10, all mothers) discussed their awareness and understanding of gene therapy and opinions about it for children, including how this should be communicated to the child and parents. CONCLUSION: A coherent, community-wide strategy for communicating information and news about gene therapy should now be provided for children and families living with haemophilia. This should come primarily from trusted haemophilia nursing teams, who can give tailored, age-appropriate, factual advice.