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My commitment to health equity in rare diseases began in an optometrist’s office at 14 years old. I had lost most of my vision in my left eye due to Multiple Sclerosis (MS), a demyelinating autoimmune condition. The research on MS paints a picture of a patient that does not fit my description. Middle-aged women of Caucasian ancestry are the prevailing demographic of Multiple Sclerosis; it is certainly uncommon for an Egyptian teenaged girl to receive a diagnosis of a condition so rare and debilitating. While I am fortunate to have an excellent prognosis, I have been horrified by the starkly inequitable healthcare received by Black, Indigenous and People of Color (BIPOC) MS patients. Because non-White patients have been historically considered less susceptible to MS, they face delays in diagnosis and treatment. These delays, in turn, allow for disease exacerbation and greater disability accumulation. 

To eliminate such delays and to ultimately achieve much needed health equity in rare diseases, research and clinical studies must be inclusive. As a pre-medical student and undergraduate Breast Cancer researcher, I have clearly observed how research informs clinic. Medical professionals rely on the data produced by biomedical and public health research laboratories. When data regarding BIPOC, and rare diseases is scarce, there is little clinicians can do to provide an accurate treatment plan. On this note, clinics, particularly those specializing in rare diseases, show greater efficacy when they implement teams of variously specialized individuals to address the diverse needs of their BIPOC patients. At the MS center, my physician, nurses, secretaries, counselors, and social workers, have all been immensely helpful in recognizing how my financial, emotional, and social health contribute to my prognosis. The third action item I would be remiss not to highlight as critical to rare disease health equity is the dissemination of accessible information. Information accessibility not only precludes explaining a rare disease, its symptoms, and treatment, but also ensuring that these facts are readily translated into other languages. Non-English-speaking patients and their families are often disparaged, and even excluded from decisions pertaining to their care due to language barriers. Translators are helpful yet sparse; but translated materials, such as pamphlets and websites, offer greater autonomy by allowing patients to parse through information on their own time. 

Living with MS has shaped me into a vehement advocate for health equity in rare diseases. When a mentor pointed me to the Rare Disease Diversity Coalition, I was beyond thrilled to discover an organization so aligned with my values and so dedicated to helping patients much like myself. And now, I am eager to join the Health Services Research Program at Gillette Children's Research Hospital and to learn more about their comprehensive, family-, and community-oriented pediatric services. As a former pediatric MS patient, I am immensely committed to public health research on the social determinants of health and relating it to BIPOC pediatric patients. I am honored to join Dr. Rhonda Cady, lead of the Health Services Research Program, and her dedicated team as a RDCC fellow this coming month!

Post by Rare Disease Diversity Coalition
March 3, 2023