On a global scale, rare diseases are not as rare as they seem. Most estimates conclude that there are about 7000 different rare diseases that together affect more than 300 million people1. The vast majority are not widely known or understood, even among healthcare providers, and most have no or limited treatments available.
Lack of awareness is itself directly associated with several unique challenges for patients with rare diseases, including a long and erratic path to diagnosis and frequent misdiagnosis2. A study published by the NIH in 2025 found that adults with rare disorders are also more likely to experience multiple psychosocial risk factors beyond their medical symptoms, including “impaired quality of life, social isolation, loneliness, and mental health problems.3”
Recognizing the severity of these challenges, many members of the patient advocacy community worldwide have initiated efforts to raise broader awareness of rare diseases. There are hundreds of annual awareness day events for individual rare diseases, and the last day of February each year is now globally recognized as Rare Disease Day.
The growth of social media has given many patients and caregivers instant access to opportunities to collect and share information and support. Leaders in rare disease research and drug development also support many efforts to raise awareness of the different diseases they are targeting. These efforts regularly include a range of resources and programs to help build awareness, including in-person events, fact sheets and other informational materials, and, perhaps most importantly, platforms where patients and caregivers can share their stories.
The Power of Storytelling in Rare Diseases
When sharing information about rare diseases, there are two main approaches. The first is to provide a clinical description of the disease, including details on cause, mechanism of action, symptoms, and strategies in patient management. Details are often supported by relevant facts and statistics. The second is the use of stories from and about real patients and families affected by rare diseases. In this option, patients often talk about when they developed symptoms, their path to diagnosis, and how they and their caregivers work to manage and protect their health. Several recent studies have provided important new insights into efforts to build awareness of health issues through factual, firsthand information and what is often referred to as “personal storytelling.”
A 2024 study by Harvard researchers focused on the differences between stories and statistics in how we learn and what we remember. According to the results, the average impact of a list of facts and statistics on shaping our understanding of a topic fades by 73 percent over the course of a single day, while the impact of information about an issue provided in a story fades by only 32 percent4. These and other recent research findings on learning and retention strongly support the use of real-world examples to help people understand the impact of rare diseases. By hearing about a rare disease directly from a patient or caregiver, research shows that we are more likely to retain that information and build a stronger connection to that community.
These results serve to quantify what members of the rare disease community have long known. There are many examples of individuals and families who first recognized they were affected by a rare disease after hearing another family’s story. There are even more who report that connecting with other patients and families and hearing their stories played a central role in helping them overcome feelings of sadness, isolation, and depression following their diagnosis. These connections also empower many patients and caregivers to join the effort to help others by sharing their own stories.
One great example of the power of storytelling is Abbey Meyers, who is often referred to as the “mother” of the rare disease advocacy movement. The mom of a son with Tourette’s syndrome, Abbey felt the isolation and lack of information that so many families affected by rare diseases feel. Rather than suffer in silence, she worked tirelessly to tell her story anywhere she could – including in the media, in Washington, and at medical meetings and events. Through storytelling, she helped build a coalition of families affected by rare diseases, which led to the establishment of the National Organization for Rare Disorders (NORD), the first national nonprofit to advocate for and represent the voices and needs of individuals and families affected by rare diseases. Through NORD, she also headed a national lobbying campaign that led to the establishment of the Orphan Drug Act, the world’s first law incentivizing drug development for rare diseases.
Storytelling as an Untapped Resource in Rare Diseases
Each year on Rare Disease Day, thousands of organizations and individuals around the world join the effort to show their support, including many families who share their stories through written messages and videos and at online and in-person events. This one-day spotlight on rare diseases has played an important role in bringing more information and services to patients, supporting research, and highlighting the critical need for new and better treatments. It also invites the question – can we take steps to keep this momentum going through the 364 other days of the year?
Based on everything we know about what works in building awareness of important health issues, the answer is a resounding yes. If we can harness the power of storytelling on Rare Disease Day and other awareness days, we can help keep that momentum going by creating more and varied opportunities for patients to share their stories throughout the year. Fortunately, advances in technology and social media now provide many families with the resources they need to share their stories with the world, either individually and independently or in collaboration with leaders in advocacy, drug development, or other services that support the rare disease community. There are also now many different resources with guidance that can help patients and caregivers tell their stories effectively.
It’s Time for a “More is Better” Approach to Building Awareness of Rare Diseases
There is an adage in marketing that says the best way to build awareness for a product or service is to always be marketing. Once you stop, the impact begins to fade.
The same is true of efforts to help people learn about important under-the-radar health issues, including rare diseases. We should be talking about them year-round. Events, including Rare Disease Day and other rare disease meetings or observances have helped us make historic advances in efforts to provide more information and support to patients and families. By creating even more opportunities for patients and families to share their stories throughout the year, we can build on this success and reach more people more often with information. These efforts can lead to more research, more services for patients, and a better understanding of the impact these diseases can have and how we can all help.
We can’t make every day Rare Disease Day. But we can make the rare disease community a bigger part of everyday life year-round.
1 https://www.thelancet.com/journals/langlo/article/PIIS2214-109X(24)00056-1/fulltext
2 https://www.eurordis.org/survey-reveals-lengthy-diagnostic-delays/
