Authors: Andy King, Nadia Ali, Cecelia Bellcross, Fabienne Ehivet, Heather Hipp, Jessica Vaughn, Emily G. Allen
An estimated 1 in 291 women carry a fragile X premutation (PM) and there is little evidence that this number differs by racial and ethnic background. Yet African American women who have a PM continue to be underrepresented in Fragile X research. African Americans experience disparities in access, quality, and outcomes of their healthcare, including reproductive and women’s health clinics. Knowing that women with a PM overall report negative encounters with uninformed healthcare providers and lack of personal, emotional support, it is important to explore how racial impacts affect African American women with a PM.
In this study, we conducted qualitative interviews with eight African American women with a PM, exploring their diagnostic journey, encounters with healthcare providers, family dynamics, and mental/emotional health. Participants included seven women who have at least one child with fragile X syndrome (FXS). They were identified from the Southeast, Midwest, and Mountain West regions of the United States. Interviews ranged from 20 to 80 minutes long.
We identified several common themes among the interviews: negative healthcare experiences related to perceptions of healthcare providers’ knowledge and supportiveness, difficulties navigating family dynamics when sharing their diagnosis, a high frequency of depression and anxiety, and hopes for more inclusive healthcare and advocacy. Participants discussed the isolation they felt within their families, the African American community, and in Fragile X advocacy groups. Our results indicate a lack of knowledge and support on the part of healthcare providers, worries over being taken seriously by providers, misunderstandings within families, and a need for greater emotional and mental support. As these findings confirm research from a decade ago, a stronger focus from national advocacy and research groups on the experience of racial and ethnic minorities in the fragile X community could lead to better resources for providers and greater support for women.
Why this matters:
This research both builds on the concerning disparities in healthcare experienced by women of color in the United States and illustrates needs for more inclusive advocacy and support which groups like NFXF can address to bridge those gaps. The experiences of our participants confirm difficulties around communicating a diagnosis of fragile X within African American families, including the impacts fragile X-associated conditions could have on future generations. We also found widespread mental health concerns with our participants, including depression and anxiety, which may be linked to their PM, their experiences of racial discrimination, and/or the daily difficulties of raising a child with Fragile X. A need for building a more inclusive space within groups like the NFXF was also discussed, challenging us to not only embrace the neurodiversity but also the racial and ethnic diversity of the community the foundation serves.
Although this research is based on a limited sample size, it offers many opportunities both in academia and the advocacy community for next steps. We commend the current plans of the NFXF in surveying minority-status stakeholders about representation in research and healthcare. We further encourage NFXF to bring members of minority-status families to the table in planning family conferences, advocacy work within local communities, and future support groups. Our research team is currently conducting a survey of healthcare providers to understand their knowledge gaps around fragile X and FXPOI. Further studies should be conducted within other minority-status groups, including Hispanic families who experience their own barriers to healthcare.
The authors would like to thank all of the women who participated and shared their experiences. This study received funding from the National Fragile X Foundation, the Georgia Association of Genetic Counselors, the National Institute of Child Health and Human Development (NICHD) and the National Institute of Neurological Disorders and Stroke (NINDS) that supports the Emory National Fragile X Center (U54NS091859 and P50HD104463) in which this work was conducted. Assistance for this project was provided by the UNC Intellectual and Developmental Disabilities Research Center (NICHD; P50 HD103573; PI: Joseph Piven). This study also utilized a REDCap database supported by Emory’s Library and Information Technology Services (UL1TR000424).
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The authors would like to thank the Journal of Racial and Ethnic Health Disparities for publishing their study. Full text of this research can be found here.