Each year, on the last day of February, people across the country and globe celebrate Rare Disease Day, an important awareness day to build understanding of rare diseases and their impact.
Lisa Phelps Sarfaty, M.P.H.
Vice President of Community Engagement, National Organization for Rare Disorders (NORD)
While each rare disease affects a small number of people, approximately 25-30 million Americans are living with one of the estimated 7,000 rare diseases. This is roughly the same number of Americans diagnosed with diabetes or asthma, yet the experience of living with a rare condition is extremely different from a common one.
The theme for Rare Disease Day 2022 is health equity, which presents an opportunity to shine a light on the challenges rare disease patients face and what we can do — individually and as a society — to help.
Everyone’s at risk
Rare diseases do not discriminate and can affect people of all genders, ages, races, ethnicities, socioeconomic statuses, religions, and sexual orientations. Regardless of any other position they hold in society, rare disease patients often find themselves feeling isolated and as part of a marginalized group, sidelined from a healthcare system that is not yet optimized for their position, leaving them at a medical disadvantage.
There are urgent needs for treatment, research, and improved diagnostics. Only a few hundred rare diseases have an FDA-approved treatment, few specialists exist for each condition, and patients wait seven years, on average, for an accurate diagnosis. Gaps that exist in the healthcare system are often exacerbated in the rare disease community, and marginalized groups may face extra barriers to care and are underrepresented in clinical trials.
Confronted with these challenges, what would health equity look like for people living with rare diseases and how can we achieve it?
Health equity will be possible by finding solutions to the disparities that exist and will be measured by results that make a difference to patients, including the availability of treatments, early diagnoses, improved understanding of rare diseases among medical professionals and the public, and bipartisan policies that provide support for every single rare disease patient.
These goals require action, and there are things each of us can do — for Rare Disease Day and throughout the year — to make a difference.
Be an advocate
Rare Disease Day has grown to become a movement complete with awareness events, legislative meetings, school programs, and medical training around the country, often spanning weeks at a time. This level of community engagement shows how much stronger we are when we work together.
Keep the momentum going and organize events in your community, attend virtual events around the country, participate in advocacy campaigns, and speak up for policies that help patients and stand against those that hinder progress.
Share your story and embrace the power of data to move us forward
Each person’s experience matters, and we encourage every patient, caregiver, friend, family member, teacher, colleague, doctor, nurse, researcher, and anyone touched by a rare disease to share their experience. Increased information about living with a rare disease helps advocates and researchers target their efforts.
Support increased access to medical care
Before the pandemic, most healthcare was provided in person. Frequent doctor visits and participation in clinical trials have long resulted in costly travel, and missed work and school for rare disease patients and their caregivers.
Help ensure that rare disease patients can optimize their care and quality of life with permanent expanded access to telehealth options. Check if there is a NORD Rare Disease Center of Excellence near you, or if a medical center in your community is eligible to join this national network to promote knowledge sharing, and provide more consistent and equitable care for rare diseases around the country.
Recognize rare diseases as a public health priority
Recently, the United Nations took a major step forward and adopted a groundbreaking resolution recognizing the specific challenges of people living with a rare disease and their families. Over the coming months, we will see the implementation of the resolution at international, regional, and national levels, with opportunities to come together to alleviate the burden of rare diseases.
Spread the word about research
Rare diseases are often at the forefront of innovative research that leads to translational and novel drug discovery. An increasing number of resources are available to help rare disease patients participate in research more easily, including online natural history studies, patient-focused drug development initiatives, and decentralized clinical trials. Together, we can advance breakthroughs that discover new treatments and medicines.
The rare disease journey is not an easy one, but there are more reasons to believe in progress than ever before. We hope every American will find an opportunity to learn about the realities of rare diseases and be moved to take action to help create a better future that eliminates disparities by advancing science, public policy, and access to care.