Across the world, millions of people affected by rare diseases face daily challenges that others couldn’t imagine. Schools, workplaces, and public services may not be adapted to their needs. Rare disease patients may travel hours or days to the only specialist who can treat them, perhaps after traveling from doctor to doctor just for a diagnosis. And for some, treatment is too expensive or totally nonexistent.
When even doctors struggle to understand what they go through, patients can feel pretty isolated. Rare diseases simply do not get the attention they deserve, and only through campaigns like Rare Disease Day can we turn this reality around.
The Importance of Rare Diseases Day
First organized in 2008 by EURORDIS, a non-profit alliance of over 700 rare disease organizations from 60 countries, Rare Diseases Day is an annual, international campaign to raise awareness about living with little-known diseases.
Each Rare Diseases Day is observed on the last day of February, sometimes on the “rare” February 29. And each year, EURORDIS highlights an important theme. This year’s, as in 2017, is research: another call to recognize the leaps and bounds patient communities have made in advocating for rare disease research, but also to remember the huge proportion of patients with diseases that can’t yet be treated or cured.
Access to treatment has remained the campaign’s key target throughout its 10-year history. An estimated 300 million people worldwide still live with over 6,000 known rare diseases – some of which aren’t just difficult to treat, but also difficult to diagnose. And that’s where the challenge for affected patients begins.
What Is a Rare Disease?
Rare diseases are defined differently across geographic borders. In Europe, a disease is defined as “rare” if it affects fewer than 1 in 2,000; in the U.S., rare diseases affect fewer than 200,000 Americans. They are also defined differently from patient to patient, as every individual experiences the same disease with unique experiences and symptoms.
However, these conditions do share similar trends and characteristics. For example, most patients report delayed or inaccurate diagnosis, which creates unnecessary social and financial burdens.
Another worldwide pattern is the proportion of rare diseases with genetic origins: 80 percent. The other 20 percent accounts for bacterial, viral, environmental, or degenerative causes. Making up such a small percentage, non-hereditary diseases can be considered the rarest of the rare and come with unique challenges of their own.
Environmental factors are particularly problematic in the U.S., which is swamped with more than 80,000 toxic chemicals. Most haven’t even been tested for safety, but many are known to be fatal. Exposure to the mineral asbestos, for example, leads to mesothelioma and other rare diseases like asbestosis, which kill 12,000 to 15,000 Americans every year. But like other countries that still use asbestos, gaps in research bring us no closer to banning the substance or repairing its damage. The result is 107,000 annual mesothelioma deaths worldwide.
Here’s What We Need to Do
To help address these challenges, EURORDIS urges, patients all over the globe can take their involvement in research to new heights in 4 basic steps. 2018 will be the year of the proactive patient: one who helps kick start, drive, and organize research and provides crucial data.
But Rare Disease Day is for everyone. Those not directly affected by a rare disease (patients’ families, carers, authorities, researchers, and the general public) can also participate. If you own an organization, you can become a friend of Rare Disease Day. Online, you can share your experiences with a rare disease, upload a photo in support of the campaign, or join the #ShowYourRare conversation on social media. Within your local community, you could organize an event. (Get inspiration from this list of events for each country.)
The U.S., 1 of the first countries to make Rare Diseases Day international after joining in 2009, held more than 40 events in 2017. Activities included educational seminars, a toy and book collection, and a Rare Acts of Kindness campaign. Your efforts can be just as small, though life-changing. Let’s aim to break last year’s record to show rare people they have our support.