By Siwaar Abouhala, BA

Rare disease is often not an isolated condition, but rather an integrated, intersectional, and ongoing experience for many individuals and their families. This takeaway is one that my work has focused on as the 2025 Rare Disease Diversity Coalition (RDDC) Fellow, especially over the past few months of conducting genetic health disparities research, healthcare advocacy, and community member interviews. While collaborating with American Muslim Health Professionals (AMHP) as a research consultant, I have learned the importance of centering rare disease perspectives and stories across diverse lived experiences.

For instance, a major project currently developing at AMHP is an anti-discrimination curriculum for providers who serve Muslim rare disease patients in the United States. As part of this curriculum, I am researching and writing key scenarios to highlight major lessons for different clinical specialties, including mental health, nutrition, maternal and child health, and more. My process typically involves conceptualizing a main character and their story, often striving to include complex social determinants of health (SDoH) to paint a detailed, multilayered narrative.

The SDoH framework is a common public health tool that is used to map out the different factors that may impact a person or group’s health outcomes, such as food and housing insecurity, structural poverty, access to safe neighborhoods, and more (Bhavnani et al., 2025). Additionally, an important feature of SDoH is that multiple elements related to living circumstances may overlap and generate unique experiences, as can be understood through an intersectionality framework. This concept of intersectionality can sometimes be misconstrued as a victimizing approach to health (i.e.. a list of living conditions resulting in disempowerment), but it actually was developed by Black feminist scholar Kimberlé Crenshaw as a power-based framework (Cho et al., 2013). This perspective highlights the comprehensive, multidimensional experiences of each individual, which may be especially helpful to consider in the minoritized rare disease space.

Each scenario that I draft for AMHP’s anti-discrimination curriculum centers SDoH through an interdisciplinary approach to provide further representation throughout the rare disease community. Rather than write a stand-alone rare disease scenario, each scenario includes rare disease narratives threaded across diverse storylines. For instance, in the mental health scenario, I tell the fictional story of a recently immigrated Muslim woman from a war-torn country who suffers from loneliness, depression, and social isolation. Amid an entanglement of mental and psychosocial health challenges, immigration struggles, and diasporic tension, she also is experiencing a rare, progressive neuromuscular condition. In this way, her rare disease is presented as one aspect of her life and provides readers with a more realistic viewpoint.

As I further co-develop these scenarios and curriculum, I hope to continue imagining stories inspired by real patient experiences and rooted in essential social science teachings. AMHP’s advisory board – in conjunction with the lived experiences of patients and their loved ones – may provide a useful resource to advance equity in the genomic and rare disease sphere. I hope that this blog and ongoing AMHP curriculum can provide vital community representation, guiding questions, and advice for providers who are committed to fostering diversity in medicine and scientific research.

Works Cited

Bhavnani, S. K., Zhang, W., Bao, D., Raji, M., Ajewole, V., Hunter, R., Kuo, Y. F., Schmidt, S.,

Pappadis, M. R., Smith, E., Bokov, A., Reistetter, T., Visweswaran, S., & Downer, B. (2025). Subtyping Social Determinants of Health in the "All of Us" Program: Network Analysis and Visualization Study. Journal of Medical Internet Research, 27, e48775. https://doi.org/10.2196/48775

Cho, S., Crenshaw, K. W., & McCall, L. (2013). Toward a field of intersectionality studies:

Theory, applications, and praxis. Signs: Journal of Women in Culture and Society, 38(4), 785–810. https://doi.org/10.1086/669608