Bridging The Gaps in Rare Disease Advocacy and Support

Our panel of experts discusses the multifaceted obstacles in rare disease advocacy and how collective efforts can drive rare disease awareness, support, and research.

What are the biggest challenges rare disease advocates face in raising awareness among policymakers, healthcare providers, and the general public? 

One of the biggest challenges rare disease advocates face is the timing pressure that today’s clinicians are up against. Healthcare providers are repeatedly told “When you hear hoofbeats, think horses, not zebras,” in part because, in many situations, it helps us reach the right diagnosis faster. If a patient needs a specialty follow-up, the provider must find time for a referral, a process that still often relies on fax machines. If genetic testing is recommended, that too takes time to coordinate.

Technology can save time at these critical steps. Rare disease advocates can better support families by helping providers co-create new technologies that address the realities that providers face that can cause barriers for families. 

What are the most pressing gaps in support services, and how can stakeholders work together to address them? 

One of the biggest gaps is funding and financial support. Rare diseases are expensive to diagnose and treat, and even for patients with insurance, it is hard to cover costs. Some patients may also avoid getting the care they need because they don’t know they can receive financial assistance for treatments and prescriptions and are worried about denials from payers. Many pharmaceutical manufacturers offer programs to offset costs, like information about discounts, coupons, and other available resources; pharmacy services are also helping to close this gap.  

Patients with rare diseases are also more likely to suffer from depression and anxiety than people with more common diseases and feel a lack of social support. Once again, technology can help connect them through patient support programs. 

What are the most significant barriers to advancing rare disease research, and how can they be overcome? 

I believe one of the most significant barriers is that patients and advocacy groups often struggle to gather and share data across groups working on the same condition. This poses a substantial challenge for conducting clinical trials. 

It’s incredibly important for all stakeholders — healthcare providers, researchers, patient advocacy groups, and life science companies — to collaborate to increase funding for research and development of new treatments. Establishing these collaborative networks can help us think outside the box when it comes to research with innovative trial designs, like basket or umbrella trials, and leverage telemedicine and other technologies to expand patient access to clinical trials.

What gives you hope for the future of rare disease advocacy, support, and research? 

We’re seeing a real shift toward person-centered care, and I’m encouraged by the ways in which patients can and do advocate for themselves. Patient activation for the general population is more important than ever when it comes to rare diseases because more activated patients can get a diagnosis faster. This, in turn, makes it possible to treat the condition when it’s still possible to see good outcomes. At Phreesia, we are committed to helping patients play a more active role in their care and ensuring they have the resources they need to ask their providers and care teams for the right support. This self-advocacy is not only raising awareness of rare diseases but also driving change in research and policy. 

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What are the biggest challenges rare disease advocates face in raising awareness among policymakers, healthcare providers, and the general public?

Three big challenges face the rare disease community. First, opinion leaders all require a significant amount of education when it comes to policies and issues that face the rare disease community. What works for mainstream healthcare is not necessarily good policy for rare disease patients. Secondly, the rare disease community needs to consistently push for further innovation and develop sound policies to address the access issues facing rare patients. Lastly, many voices are vying for attention in the modern world, and the rare voice needs significant amplification. The use of technology and encouraging rare patient engagement is critical to success.

What are the most pressing gaps in support services, and how can stakeholders work together to address them? 

At RAAP, we focus on addressing issues that affect patient access to care and therapies. Rare disease patients face enormous challenges in their journey, starting with a diagnosis, finding a specialist, and, for those fortunate enough, a therapy. However, the healthcare system throws up continued barriers to access to both care and therapies, leading patients to enormous frustration. Exploring issues that will reduce those barriers as well as lower patient out-of-pocket costs would significantly improve the well-being of rare disease patients. 

What are the most significant barriers to advancing rare disease research, and how can they be overcome? 

One of the barriers is ensuring that therapies, once they are approved by the FDA, get into the hands of physicians and patients. For example, a new innovative rare disease therapy may have months or years of delays because insurance plans, Medicaid, or Medicare do not want to pay for it. For rare disease patients with a life-threatening illness or progressive disease, this can be catastrophic. Ensuring patients have access at the time of FDA approval would be an enormous step toward ensuring rare disease patients get the right therapy at the right time in their patient journey.

What gives you hope for the future of rare disease advocacy, support, and research? 

Rare disease patients are persistent, and increasingly they are becoming very savvy with various methods of communication needed to educate and advocate stakeholders and policymakers. The rising generation of rare disease advocates has been effective in opening doors to generate policy solutions and educate policy stakeholders on the negative impacts of policies such as copay accumulators, PDABs, and Medigap issuance for patients under the age of 65. The policy advancements rare disease advocates have provided have shined a light on bad policy, promoted workable solutions, and provided hope for rare disease patients that the therapies and coverage they need will be provided.

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What are the biggest challenges rare disease advocates face in raising awareness among policymakers, healthcare providers, and the general public? 

One of the biggest challenges for rare disease advocates is communicating the complex needs of those living with rare conditions. With over 30 million Americans facing a rare disease diagnosis and more than 10,000 known rare diseases, policymakers often lack a deep understanding of these unique challenges. This is why patients, caregivers, and advocates are essential — they have firsthand knowledge and valuable insights to help inform policy, medical care, and research. 

Additionally, few rare diseases are understood and studied by the medical community, and most lack sufficient research funding. This lack of knowledge among healthcare and insurance providers leads to delays in diagnosis and treatment, which the right policies can help address. Despite progress, fewer than 5% of rare diseases have a Food and Drug Administration-approved treatment, and over 200 new rare diseases are discovered annually, outpacing drug development. This is why incentives for drug development are so important, such as the Rare Pediatric Disease Priority Review Voucher program that needs to be reauthorized by Congress in March 2025.

What are the most pressing gaps in support services, and how can stakeholders work together to address them? 

A major gap in rare disease support is the financial burden on families. The excessive cost of treatments, prescriptions, and routine care forces families to make impossible choices, like rationing medications, quitting jobs, or forgoing care. This strain harms both the patient and their loved ones, impacting health and quality of life.  

Additionally, the lack of mental health support intensifies isolation and anxiety, while stigma adds emotional distress. The logistical challenges of traveling long distances for specialized care further burden families. To address these issues, increased financial support from philanthropic organizations, donors, corporations, and the government is essential, particularly for initiatives like the NORD® Rare Care Patient Services and Patience Assistance programs, which provide lifesaving and life-sustaining access to necessary medical care, treatments, and support. 

What are the most significant barriers to advancing rare disease research, and how can they be overcome?  

The biggest barriers to advancing rare disease research are siloed data, a disease-by-disease approach, and the lack of and threat to commercial incentives for pharmaceutical companies. The focus on blockbuster drugs leaves limited resources for rare diseases, and the regulatory environment adds risk for investors. Federal funding for translational research is also under threat. To overcome these challenges, we need to adopt consortium or network approaches, like the NORD® Rare Disease Centers of Excellence, to foster collaboration and resource sharing.  

Alternative funding models, such as nonprofit investments in ultra-rare diseases, are also crucial. Additionally, a fundamental challenge is the lack of awareness about rare conditions early in researchers’ careers. With small patient populations, researchers may hesitate to focus on a condition with limited data. Creating awareness and fostering partnerships between researchers and patient communities can help break down these barriers. By building these connections early on, we can ensure that researchers have the support and knowledge they need to make progress. 

What gives you hope for the future of rare disease advocacy, support, and research?  

What gives me hope is the incredible strength and determination of the rare disease community. Despite limited resources, patients, advocates, and patient advocacy groups are driving innovation and change. 

Advancements in genetic research, gene therapies, and personalized medicine offer real hope for millions with rare diseases. The growing collaboration among the community of advocates is stronger than ever. As we say at NORD, “Alone, we are rare. Together, we are strong.” Progress in science and policy is inspiring, but we need public and private support to keep moving forward. Anyone can help by donating at rarediseases.org or urging Congress through a NORD Action Alert to pass lifesaving rare disease legislation in 2025. Together, we can drive care, research, and progress for millions of Americans with rare diseases.