Listening and Learning: Advancing Equity in Rare Disease Care
People living with rare diseases face a unique set of systemic challenges. These often include significant delays in diagnosis, limited treatment options, and significant disparities in access to quality care and support services. The journey for individuals and families affected by rare diseases is often fraught with these inequities. The emotional toll of these challenges is substantial: in a recent survey, 50% of individuals impacted by rare diseases (both patients and caregivers) reported feeling overwhelmed by the responsibilities of daily life and care.1
With an estimated 7,000 known rare diseases affecting nearly 30 million people in the US, the collective impact is profound.2,3 We are deeply committed to understanding these complexities and working towards a more equitable landscape for all those affected by rare diseases. Equity isn’t just a word: it’s the foundation of a truly supportive and inclusive rare disease ecosystem. To fully appreciate the strength and resilience within the rare disease community, we invite you to hear directly from some of our employees whose lives have been personally touched by rare disease:
These stories are a powerful testament to the resilience of the rare disease community and a reminder that we are all in this together.
Equity in Rare Disease
Historically, people living with rare diseases have faced significant disparities in access to care and representation. We are committed to driving community-validated strategies to ensure equitable support and representation throughout the entire rare disease journey. This includes improving clinical trial design, increasing access to support resources and diagnosis, and fostering a more inclusive healthcare environment.
Sharing Truths, and Showing True Colors
Navigating the rare disease landscape can be overwhelming, but no one should feel alone. We're committed to empowering the rare disease community to share their experiences. Our colleague, Manny exemplifies this spirit. Living with hemophilia, a rare blood disorder, has fueled his passion for patient education and advocacy.
"For me, my superpower is empathy," Manny says. "I want to connect with you, and I want you to know that I see you. I hear you." He's also a strong advocate for those whose conditions might not be immediately apparent, emphasizing that "Buried diseases…can’t be necessarily seen" and highlighting the need for greater accessibility and understanding.
Cycling had always been Manny's passion, but hemophilia presented initial challenges. Through careful disease management and inspired by the support of his loved ones and medical team, he found a way to reignite that passion. This led him to complete a remarkable 160-mile bike fundraiser for the hemophilia community. "When I got to the end," he recalls, "I felt so incredibly proud." Manny's story highlights the strength and determination within the rare disease community, underscoring how individuals can achieve meaningful goals while managing their conditions.
Our Ongoing Commitment to the Rare Disease Community
With over 40 years of experience, we remain committed to identifying and addressing unmet needs within the rare disease community. We actively participate in advocacy initiatives, supporting legislative efforts that improve access to diagnosis, treatment, and support services. Through scientific innovation and pipeline advancements, we strive to ensure comprehensive support and inclusion across the country.
We are inspired to learn more, raise awareness, and advocate for the rare disease community. As Manny eloquently puts it, "I want to be someone of empowerment…and I want to motivate another person living with a rare disease to strive for more, to live life to the fullest."
Together, we can transform the rare disease landscape in the US.
References
1 Rare Disease Diversity Coalition. (2024). Inequities in the rare disease community: The voices of diverse patients and caregivers. National Organization for Rare Disorders.
2 Rare Disease Day 2025 Information Pack. Rare Disease Day. Accessed January 13, 2025. https://www.rarediseaseday.org/downloads/
3 U.S. Food and Drug Administration. Rare Diseases at FDA. https://www.fda.gov/patients/rare-diseases-fda.