Rare Disease Day: Why it Matters and How to Get Involved

Rare Disease Day, marked annually on the final day of February, draws attention to the urgent need to understand rare diseases and celebrate the resilience of patients and their families. This global call resonates across more than 90 countries, touching countless lives. However, the fight against rare diseases remains a persistent challenge.

The day brings to light a critical yet often overlooked global health issue. Defined as rare when the condition affects fewer than 200,000 people in the United States or less than one in 2,000 individuals in Europe, these diseases may seem insignificant in isolation. Yet, they collectively impact over 300 million people around the world. 

The campaign brings together patients, caregivers, medical professionals, researchers, and policymakers, united by a shared purpose. Its aim? To raise awareness, propel research forward, and foster policies that enhance the quality of life for those affected. 

Featured in: February - Awareness Months, Days & Observances.

History and Background of Rare Disease Day

The first Rare Disease Day debuted on our calendars in 2008, commemorating the 25th anniversary of the Orphan Drug Act enactment in the United States. EURORDIS-Rare Diseases Europe and its Council of National Alliances initiated the day. They chose to celebrate it annually on the 29th of February, a leap year date that only occurs once every four years. This selection of date pays homage to the extraordinary nature of rare diseases, although we also observe it annually on the 28th of February in non-leap years.

Just 18 countries participated in the inaugural event. Today, over 100 countries join the observance.

Since, a global community has rallied together, initiating a host of activities. Think scientific conferences, workshops, awareness campaigns, and fundraisers. Every year, a new theme focuses on the various aspects of rare diseases, be it research, patient experiences, or health policies—the rare disease day 2023 theme centers around the effective coordination of care. 

Two critical milestones have marked the journey of Rare Disease Day. One was when the World Health Organization (WHO) acknowledged the day. The other was the recognition of rare diseases as a public health priority. 

In 2019, the European Commission took a significant leap forward. They rolled out the European Joint Programme on Rare Diseases, a €100 million initiative to promote research and collaboration.

The Cause and Its Challenges

The world of rare diseases might seem isolated. Yet, when we unify them, they form an under-recognized global issue, impacting an estimated 350 million people. 

Most of these diseases are genetic, accounting for about 80% of rare health conditions. These are not merely conditions that can be managed; they're chronic, progressive, and have potentially life-threatening consequences. Children bear the significant brunt of this battle. Unfortunately, 30% of children diagnosed with a rare disease won’t see their fifth birthday.

With the low incidence of each disease, the odds that healthcare professionals will encounter the specific conditions of many rare diseases are slim. This unfamiliarity often results in a delayed or mistaken diagnosis.

In the United States alone, a rare disease patient faces an average 7.6-year-long crusade for a correct diagnosis¹. This journey isn't merely about giving a name to their condition. It's an often fraught time, riddled with the detours of misdiagnoses, unnecessary treatments, and a whirlwind of financial, emotional, and physical tolls.

Researchers have identified over 7,000 rare disorders and diseases, each presenting unique challenges. The allocated research funding is often inadequate. Resources? Limited. Treatment options? They're few and far between. 

Unfortunately, the FDA has approved treatments for only 5% of these diseases. For the lucky few who have treatments available, they often come with a hefty price tag. It isn't hard to see why Rare Disease Day is not just essential—it's critical. 

Efforts and Initiatives

Rare diseases are a global concern; thankfully, they're not ignored. Take EURORDIS, for example. Have you heard of their "Show your Rare" campaign? - People painting their faces and sharing on social media with the hashtag #ShowYourRare in a show of solidarity that's impossible to ignore.

But the battle against rare diseases isn't a one-person show. It's a collaboration of involved parties, like the International Rare Diseases Research Consortium (IRDiRC). Comprising over 50 organizations, this alliance is breaking down barriers in research and development. They're on a mission - to bring diagnostic and therapeutic solutions to the forefront quicker than ever before. 

The World Health Organization (WHO) has similarly earmarked rare diseases as a high-priority area and works toward a global strategy for their prevention, diagnosis, and management.

On home soil, the National Organization for Rare Disorders (NORD) has been a reliable pillar of support, from providing resources to promoting policy changes. The efforts of this national organization have paved the way for increased research funding, equal access, and improved treatment.

Across the ocean, the European Commission's Rare Diseases Joint Action (RD-ACTION) isn't far behind. They've rallied together in 35 countries to improve the quality of life and support individuals affected by rare diseases.

How to Get Involved and Support Rare Disease Day

There's no shortage of ways to pitch in and advocate for the fair treatment and medical representation of rare diseases, and it all starts at home - in your local community. 

Have you ever tried your hand at organizing a charity run or been to a seminar on rare diseases? These local events appeal to those who care, raising awareness and provoking change.

But don't forget - we live in the digital age. Why not use it for good? Share your experiences on social media. Use the hashtag #RareDiseaseDay and campaign-specific tags #showyourstripes and #shareyourcolors, and watch as your words inspire others, even if they're halfway across the world. Check out the downloads on the official website for inspiration and creatives you can use.

Knowledge is a precious commodity. Create meaningful, enlightening content about these diseases, and help your community understand the trials and tribulations those affected face. Also, consider hosting your own rare disease day event to share knowledge and help others better understand some of the challenges the cause addresses. 

Volunteering, time, and money

Volunteering with a rare disease organization could also be just the thing for you. It might involve a little paperwork and some event planning, but it's also about being there - listening to the stories, holding a hand, and being a friend. 

And let's remember about policy advocacy for better care access and increased research funding. Attending events and press conferences that occur in numerous locations around the day relating to rare diseases furthers your knowledge and advocacy for change. They also signpost other policy-related events discussing policy issues relating to rare diseases.

Last but not least, money helps. Organize a fundraiser, or make a personal donation. Every little bit helps. Every cent brings us closer to better understanding and defeating rare diseases. 

Conclusion

Rare Disease Day isn't just a fleeting moment on the calendar. It catalyzes global dialogue, nurturing understanding and driving the quest for life-changing research. Imagine the scope—around 300 million individuals across the globe, each battling a rare disease, each carrying their own unique story.

Let's illuminate these hidden battles this February and offer more than statistics. Let's give faces to the figures and names to the syndromes. 

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