The Correlation Between Rare Diseases and Diverse Populations: The Role of Patient Advocacy

by Cheryl A Petruk, MBA

systems worldwide These diseases often lack widespread research, accessible treatments, and clear diagnostic pathways, disproportionately impacting diverse populations. Racial and ethnic minorities frequently experience delayed diagnoses, misdiagnoses, and reduced access to emerging therapies, exacerbating health disparities. Patient advocacy has emerged as a crucial force in bridging these gaps by raising awareness, influencing policy, and fostering research initiativesthataddresstheuniqueneedsoftheseunderservedcommunities. UnderstandingtheLinkBetweenRareDiseasesandDiversePopulations

Historically, medical research and healthcare policies have been predominantly designed around majority populations, often overlooking the genetic, environmental, and socioeconomic factorsthatinfluencediseasepresentationandprogressioninminoritygroups.Thisoversightis particularly concerning in the realm of rare diseases, where early diagnosis and treatment are critical

For example, sickle cell disease (SCD), which primarily affects individuals of African, Middle Eastern, and Indian descent, has long been underfunded in comparison to cystic fibrosis, a condition more prevalent in Caucasian populations. Despite both being life-threatening genetic disorders, cystic fibrosis receives significantly more research funding and public awareness (Farooqetal.,2021).Thisdisparityhighlightsthesystemicinequitieswithinrarediseaseresearch andhealthcareaccessibility.

Similarly,Fabrydisease,araregeneticdisorderaffectingthebody'sabilitytobreakdownlipids, is often misdiagnosed in populations of African or Hispanic descent due to the historical belief that it primarily affects Caucasian males (Ortiz et al., 2019). The lack of clinical awareness in diverse populations leads to missed opportunities for early intervention, resulting in poorer healthoutcomes.

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The Role of Patient Advocacy in Addressing Disparities

Patient advocacy organizations play a crucial role in tackling these disparities by amplifying patient voices, educating healthcare providers, and pushing for inclusive research practices. Advocacy groups have spearheaded efforts to increase diverse participation in clinical trials, ensuring that rare disease treatments are tested across varied genetic and environmental backgrounds.

Case Study: The National Organization for Rare Disorders (NORD) and Health Equity

NORD has been instrumental in advocating for equitable access to rare disease treatments, particularly for minority groups. In 2022, the organization launched an initiative to engage diverse communities in rare disease research by collaborating with historically Black colleges and universities (HBCUs) and Hispanic-serving institutions. Through outreach programs, NORD has facilitated genetic testing access, reducing the diagnostic gap for conditions like sickle cell disease and hereditary angioedema (NORD, 2022).

Case Study: The Global Genes Foundation and Community Engagement

Global Genes, another leading rare disease advocacy organization, has emphasized the importance of culturally competent healthcare. In collaboration with community health centers, Global Genes has developed multilingual educational resources to increase awareness of rare diseases among Hispanic, Asian, and Indigenous populations. Their Rare Disease Diversity Coalition has worked to remove barriers to healthcare by advocating for policy changes that ensure Medicaid and Medicare coverage for emerging rare disease treatments (Global Genes, 2023).