This global event (February 28), launched in 2008 and now championed by more than 65 patient organizations and numerous biopharma companies worldwide, serves as a rallying point to raise awareness about a category of diseases that are underserved, underrecognized, and underfunded. Rare Disease Day is a reminder of the significant challenges faced by individuals and loved ones affected by these rare conditions while also emphasizing the progress and hope generated by their communities, advocacy groups, and our biopharma industry.
Thousands of diseases qualify as “rare.” In the US (the definition varies by country), rare diseases are those that affect fewer than 200,000 people.
Rare Disease Day unites this wide range of conditions under one shared umbrella, fostering a global community that amplifies the collective voice. By banding together, people with rare conditions, along with their loved ones, researchers, and advocates, can spotlight the urgent need for better recognition, funding, and treatment innovation in each of their critically important diseases.
As we prepare for Rare Disease Day, we want to share our thoughts on why the collective patient voice is so critical in informing biopharma companies’ strategies, allowing them to best serve these traditionally underserved communities.
Understanding the Challenges and Unmet Needs of People with Rare Diseases
Rare diseases come with a number of challenges related to both the conditions themselves and their impact on people’s lives. This creates a unique set of obstacles for those affected. By understanding these challenges, biopharma companies can identify ways to address them so treatments truly address patients’ complex needs.
These include:
The Need for Self-Advocacy
While conditions like diabetes and heart disease are widespread and medically well-understood, rare diseases are the opposite. People living with rare diseases and their loved ones often struggle to find a community of people who can identify with what they are going through and often find their medical team has little or no knowledge of their condition.
This frequently leads them to become experts, providing valuable insights and guidance to their medical team, advocacy groups, regulators, and community. The perseverance to master what is known of the science and medical options, coupled with reporting on their signs and symptoms, sometimes means people living with rare diseases are the most informed in the room.
By raising awareness of rare diseases and arming people who live with these conditions with clear, digestible information, biopharma companies can reduce the burden on individuals to advocate for themselves.
Unfamiliarity and Isolation
Most rare diseases are virtually unknown to the general public. Explaining a condition no one has ever heard of — especially when the symptoms are invisible or difficult to understand — can be exhausting and alienating. This can strain relationships, as those in contact with people living with rare diseases may not fully grasp what it means to live with the condition or its implications. It can also exacerbate feelings of isolation, both emotionally and practically.
Biopharma companies can help by bringing together groups of patients to share their experiences and gain support from one another while gaining critical understanding of the rare disease and its impact.
Treatment Variability
Even within the same diagnosis, individual experiences often differ wildly. Standardized, approved treatments for these conditions are often unavailable, and medical professionals may rely on a “trial and error” approach. This creates a frustrating and sometimes painful process for patients and loved ones. In some cases, effective treatments may not exist at all, leaving people with few options and little hope.
By learning from people’s experiences with treatment, biopharma companies can better understand how to guide HCPs in using their product through medical education and other initiatives to optimize outcomes.
The Importance of the Personal Perspective to Guide Clinical and Commercial Strategy for Rare Disease
Rare diseases demand a fundamentally different approach to drug development and clinical trials — one that prioritizes the voices and experiences of people living with the disease and their loved ones. This inclusion isn’t just helpful — it’s essential to developing clinical trial protocols, disease education, and commercialization strategies that are cognizant of the logistical, emotional, and physical needs these communities face.
For example, clinical trial requirements that may seem manageable in other contexts — like regular visits to research centers for tests — may be extremely burdensome for patients with rare diseases. These individuals often live far from specialized medical facilities or Centers of Excellence (COEs), making frequent travel costly, exhausting, or unmanageable. Engaging people with rare diseases early in trial design can help researchers identify these barriers before they become insurmountable, leading to more feasible and patient-centric approaches.
Some of our clients have gone a step further, establishing patient advisory councils to provide ongoing input on everything from clinical protocols to communication strategies in line with compliance guidelines. By listening to input from those living with the disease, manufacturers can make informed decisions about trial logistics, social media messaging, and advocacy efforts. This enables researchers and sponsors to ensure their initiatives are both effective and respectful of the unique challenges these individuals face. This inclusive approach builds trust and strengthens the relationship between patients, researchers, and the broader biopharma community.
Building Relationships and Educating Communities in Rare Disease
Patients and their loved ones are often the foremost experts on their own conditions, possessing knowledge even their healthcare providers may lack. However, the drug development process must adhere to complex regulatory requirements. These requirements frequently cause confusion and frustration for people living with rare diseases who seek to learn more about research underway and potential therapies in development. Clear and empathetic communication is vital for bridging this gap.
For example, many patients may be unaware of FDA guidelines that restrict the types of information that can be shared about therapies during the development process. This lack of awareness can lead to feelings of mistrust, as people wonder why they aren’t being told more about the process or the status of a therapy. Providing educational resources such as plain-language explanations of regulatory rules, trial protocols, and informed consent can demystify the process and build stronger, more transparent relationships.
We have seen this approach work firsthand. In one instance, creating a general guide about the informed consent process helped potential trial participants make more confident decisions about their involvement. While the material wasn’t specific to a single disease or trial, it addressed a universal concern, making it easier for families to engage with the process.
Equally important is consistent engagement with rare disease communities. Visibility at advocacy events, partnerships with patient organizations, and regular two-way communication are key to earning and maintaining trust with this community. Sporadic engagement can leave patients feeling forgotten or undervalued. It’s critical to show up consistently and with genuine intent to listen.
Elevating and Centering the Rare Disease Community and Information Hubs
Beyond advancing treatments, biopharma companies and researchers can play a transformative role in elevating existing hubs of connection and information for rare disease communities or supporting those groups seeking to create them. This goes beyond science — it’s about supporting the creation of spaces where patients and loved ones can feel seen, supported, and understood.
By facilitating connections across geographic and social boundaries, we can help patients share their stories, gain support, and access resources they may not have known existed. Whether it’s directing people to advocacy groups, sharing publicly available research findings in plain yet accurate language, or simply supporting platforms for them to connect with one another, these efforts can have a profound impact.
Rare diseases often may isolate individuals, but they also can create deeply bonded communities when supported appropriately. By stepping into this space with humility and purpose, we can listen and learn to inform our work in the biopharma space to be as attuned as possible to the needs of those living with rare diseases.
Conclusion
Rare Disease Day serves as a powerful reminder that while each rare disease may impact only a small number of people, their collective needs and contributions are immense.
By embracing patient-centered approaches, fostering open communication, and creating opportunities for connection, we can address the unique challenges faced by these communities and accelerate progress toward a brighter future for all.