In this featured article, Deputy Director Price, a founding member of the RDDC, explores the realities of living with rare conditions, the history of patient-led advocacy, and the systemic inequities facing marginalized populations. It highlights the role of community support through financial assistance programs and emerging technologies like agentic artificial intelligence (AI) to improve diagnostic accuracy. By shining a light on organizations like RDDC and the National Organization for Rare Diseases (NORD) and raising awareness about the lived experience, The Balm In Gilead encourages local congregations and communities to take solution-oriented action to support affected individuals, caregivers, and families.
The Reality of the Rare Disease Odyssey
Across our neighborhoods and within our congregations, a quiet crisis is unfolding that affects approximately one out of every ten people in the United States. While the term “rare” suggests isolation, the collective reality is staggering over 7,000 distinct rare disorders have been identified, impacting 300 million individuals worldwide For many of these neighbors, the path to a name for their suffering is a “diagnostic odyssey” that lasts an average of five to seven years, marked by repeated misdiagnoses and unnecessary medical interventions. This journey is not just a medical challenge but a human one, placing a profound emotional and financial burden on families and caregivers who often feel they are walking this path alone.
The Power of Grassroots Advocacy
As a community, we have a unique opportunity to provide the compass for those lost in this odyssey. Advocacy and support are most powerful when they are rooted in the places where we gather our faith-based organizations, local community centers, and grassroots groups. The history of rare disease progress teaches us that change begins with families who refuse to remain silent. The landmark Orphan Drug Act (ODA) of 1983 was born from the valiant lobbying efforts of a small group of determined parents and patient leaders who formed the National Organization for Rare Disorders (NORD). They understood that while an individual disease might be rare, the commitment to justice and human dignity must be universal.
Addressing Systemic Inequities in Care
For our community leaders and organizers, the call to action is one of compassion and equity. We must recognize that the burden of rare diseases does not fall equally; patients from historically marginalized populations face systemic inequities that turn a medical challenge into a crisis of access. Our partners with The Rare Disease Diversity Coalition (RDDC) work tirelessly to address these gaps, ensuring that people of color and lower-income communities are prioritized in research and care. Our communities can support this mission by creating safe spaces for families to share their stories, helping to reduce the isolation that often accompanies a rare diagnosis.
Practical Compassion and Caregiver Support
Practical support is the heartbeat of a compassionate community. Caregivers often face devastating financial hurdles, sometimes finding out their insurance will not cover a critical treatment the very day it is scheduled to begin. Organizations like NORD provide patient assistance programs to help eligible individuals afford out-of-pocket costs, including insurance premiums, lab services, and even travel expenses for medical appointments. By educating ourselves on these resources, our local groups can act as a bridge, connecting a struggling neighbor to the financial and medical lifelines they desperately need.
Innovative Solutions for Accurate Diagnosis
We are also entering a new era where technology is becoming a partner in this mission. New “agentic” artificial intelligence systems, such as DeepRare, are being developed to serve as “diagnostic copilots” for physicians. These systems process complex genetic data and clinical descriptions to provide a ranked list of potential diagnoses, each supported by a transparent reasoning chain that a doctor can verify. In clinical evaluations, DeepRare achieved significantly higher accuracy than traditional tools, with experts agreeing with its reasoning in 95.4% of cases. This technology offers a solution to the “limited clinician familiarity” that so often delays a diagnosis, promising to shorten the years of uncertainty for many families.
Community Action as a Solution
Technology alone cannot replace the strength of a community that stands together. We must continue to elevate the voices of those affected, recognizing that every individual has a unique perspective that must remain front of mind when we advocate for better medical products and policies. We can join global efforts like Rare Disease Day to raise awareness and foster international solidarity. We can also encourage the next generation of leaders through fellowship programs grounded in lived experience, ensuring that our advocacy remains human-centered and solution-oriented.
Our mandate is clear: to move from awareness to action. Whether it is volunteering with a local patient group, participating in a policy briefing, or offering a hand to a caregiver in your congregation, every effort counts. By fostering an environment of education and mutual support, we can ensure that no one has to face a rare disease in the dark. As the rare disease community reminds us, “Alone we are rare. Together we are strong”.
References
Anthropic Team. (2024). Introducing the next generation of Claude. https://www.anthropic.com
FDA Rare Disease Innovation Hub. (2025). Strategic agenda and mission. https://www.fda.gov
National Organization for Rare Disorders (NORD). (1983). The Orphan Drug Act and patient assistance programs. https://rarediseases.org
Orphanet Report Series. (2025). Prevalence and incidence of rare diseases: Bibliographic data. https://www.orpha.net
Rare Disease Diversity Coalition (RDDC). (2025). Achievement report and equity initiatives. https://www.rarediseasediversity.org
RareConnect. (2019). Empowering the rare disease community. https://www.rareconnect.org
Zhao, W., Wu, C., Fan, Y., et al. (2025). An agentic system for rare disease diagnosis with traceable reasoning. arXiv. https://arxiv.org/abs/xxxx.xxxx