Rare Needs Representation Too

By Jen A. Miller
October 3, 2025 | VOLUME 3, ISSUE 3

Rare diseases don’t get much attention.

Patients with a rare disease—which is defined as disease that affects fewer than 200,000 people—not only have a hard time getting a proper diagnosis but also face an uphill battle with regard to treatments once they uncover what they have. Those hurdles are even higher for people from historically marginalized communities.

This is a problem that the Rare Disease Diversity Coalition (RDDC) has been tackling for the past five years. And despite headwinds against a focus on diversity, the RDDC is continuing its efforts, including working with legislators to have a rare disease bill introduced in Congress this year.

The rare disease problem in underserved communities

According to a 2023 Medical Science Education study, more than 30 million Americans have a rare disease.¹ These patients face challenges on many fronts. It takes an average of six years and consultations with up to 12 specialists to get an accurate diagnosis. And even then, less that 10% of rare diseases have a treatment approved by the US Food and Drug Administration.²

The situation is even worse for patients from historically marginalized groups. Such patients not only face barriers to care that can lead to longer times to diagnosis but also are often underrepresented—or not represented at all—in what little research is done on rare diseases. Without diverse trial populations, approved treatments may not work equitably for all.

To address these challenges and gaps in representation, the Black Women’s Health Imperative in 2020 launched the RDDC. At the time, the president of the Imperative “recognized that they could add additional health care issues into their portfolio if they added the rare diseases,” said Jenifer Ngo Waldrop, Executive Director of the RDDC. The group was also prompted to start RDDC after speaking with biotech and pharmaceutical companies, who showed interest in supporting such work.

Jenifer Ngo Waldrop
Executive Director
Rare Disease Diversity Coalition

Creating a cross-industry approach to rare disease work

The RDDC is a coalition made up different industries that impact rare diseases, including health care professionals and organizations, nonprofits, diversity advocates, and leaders in industries such as pharmaceuticals and biotech.

Their work focuses on systematic change, Waldrop said, rather than patient services. “Patients don’t call us for a care line or to offset the cost of medications, but the people who work in those areas are part of our coalition,” she said.

The RDDC is also working with well-established groups and companies to help them expand their diversity efforts. Many of the bigger organizations working in the rare disease space “have been around much longer than we have but haven’t done a whole lot in health equity,” or with recognizing underserved populations, she said.

Funding research and advocacy to fill in the gaps

RDDC is a driver of research in this area as well. In 2024, the organization published a survey about inequities in the rare disease community, collecting data from patients, caregivers, and providers to uncover disparities in diagnosis, treatment, and research participation among different demographics.³

One important recommendation that came out of that survey was for insurance providers and clinicians to increase access to genetic counseling. Research suggests that approximately 72% of rare diseases are genetic in origin, but fewer than half of respondents had received genetic testing. Another key takeaway was that more than half of the individuals surveyed delayed or forwent care because they feel stressed, anxious, drained, or hopeless or overwhelmed from managing life, care, or caregiving responsibilities. This shed light on the need and to develop and disseminate culturally informed mental health and stress management education, tools, and programs for the rare disease community—both patients and caregivers.

The RDDC also sponsors a six-month fellowship every year, pairing fellows with rare disease organizations on equity-focused projects while providing structured training on patient advocacy and health equity. Fellows undergo an eight-part educational training module that exposes them to rare disease patient advocacy work. This “gives them more exposure to rare disease than they possibly could have or might opt into while they are in school,” Waldrop said.

The 2024 fellow, Eve Kakudji, a PhD student at the University of California, Berkeley, conducted a meta-analysis that aimed to describe the current state of diversity in rare diseases clinical studies.

The RDDC has three work groups: Diversity in Research & Clinical Trials; Patient, Provider, Caregiver Journey; and Government Regulation, Legislation & Policy. The third work group first put together what became H.R. 1750, the Health Equity and Rare Disease (HEARD) Act of 2025, introduced in February by Representative Marilyn Strickland to address the many obstacles that patients with rare diseases face.⁴

The importance of moving forward

Despite pushback on diversity-related research from the current presidential administration, the RDDC is going full steam ahead and working to make sure these important issues continue to be addressed, Waldrop said. It’s a necessity, she noted, given that the US population is becoming more diverse and will continue to do so.

“If we want the medicines to work for these populations that we have historically not been working with, we have to do that now,” she said, especially considering how long clinical trials and research take.

The RDDC is also working on how it may have to change its advocacy approach.

“We’re not dismissing what’s happening,” Waldrop said. “We’re just getting smarter about who our audience is and trying to connect with our audience so that bills can be passed.”