An Exploratory Study of Disclosure of X-Linked Conditions Between Mothers and Daughters

Carriers of X-linked conditions, both asymptomatic and symptomatic, face unique challenges regarding their experiences navigating the healthcare system and understanding implications of their carrier status. Studies show that mothers are known to be the main communicators of genetic information within their families, but in families affected with X-linked conditions, communication between mothers and daughters are hindered by factors such as lack of knowledge about the condition and reproductive implications, lack of emotional support, anxiety, and uncertainty about how to initiate these conversations. The purpose of this study was to explore the motivations behind mothers' decisions to initiate conversations with their daughters, identify current facilitators and barriers to these discussions, and provide suggestions for future resource development. We surveyed mothers with daughters at risk or known to be carriers of X-linked conditions and conducted virtual semi-structured interviews with selected mother-daughter pairs. Participants were recruited online through social media groups, email groups, and X-linked condition advocacy groups. Ninety-two survey responses were included in the data analysis, and seven interviews were conducted. Thirteen X-linked conditions were represented in the data. Participants identified the most difficult topics to discuss with their daughters were life expectancy, reproductive risks, symptomatic carrier risks, and reproductive options. About 60% of participants felt comfortable and prepared for these conversations. Many expressed a need for additional resources, including accessible information about medical and reproductive implications of being a carrier, support groups for both mothers and young carriers, mental health resources, information about reproductive options, and practical guides informed by lived experiences. The helpfulness of genetic counselors and healthcare providers in supporting these conversations was found to be variable among participants. The study highlights gaps in current support systems and offers recommendations for future resource development to better serve the needs of mothers and daughters in the X-linked condition community. Understanding the needs of this community can also help inform education and resources aimed to better equip healthcare providers with the ability to support carriers as they navigate conversations with their relatives about the condition in their family.