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Officially, any disease that affects fewer than 200,000 people in the U.S. is classified as “rare,” and drugs that treat these diseases as “orphans.” Useful as these terms are, they can be misleading and even detrimental to efforts to understand, diagnose and treat people living with these diseases. So this month NCATS is kicking off a new effort to change perceptions about rare diseases, as a prerequisite to bringing about the changes that are needed to address them.
Why is “rare” misleading? Fundamentally, it’s because the term refers not to a single disease but to thousands of conditions that together affect an estimated 30 million Americans, or one out of 10 people — the same number affected by diabetes.
Why is “rare” detrimental? Because although the word “rare” usually connotes high value — diamonds and wisdom come to mind — rare diseases often are treated as less important than “common” diseases such as Alzheimer’s disease and cancer. This perception can limit the resources applied to understand and care for people with rare diseases and can unintentionally reinforce the stigma and isolation felt by rare disease patients — most of whom are children — and their families. That is part of the reason that fewer than 500 of the estimated 7,000 defined rare diseases have any approved treatment and that patients typically see multiple practitioners over a 5- to 10-year period before they are even diagnosed correctly.
When I was in training 35 years ago, these dismal statistics were understandable, even excusable, because we lacked the means to diagnose or develop treatments for all but a handful of rare diseases. But that is no longer the case, thanks to the Human Genome Project and the wonders of fundamental science, which have transformed our understanding of rare diseases and set the stage for a revolution in their diagnosis and treatment. But the term that has served us so well in the past — “rare” — is now restraining that potential from becoming reality for millions of patients and families in need.
Changing perceptions will require what NCATS does best: teamwork among scientists, doctors, patients and communities. As a start to this effort, last fall, NCATS launched the Rare Diseases Are Not Rare! Challenge. We asked the public — including the young public — to come up with creative ways to tell people about rare diseases through social media, art, posters, videos, poems or other creative media. The community heard our call, submitting dozens of truly remarkable and inspiring entries. We will be recognizing the winners and recipients of honorable mentions later this month at Rare Disease Day at NIH, where some of them will give presentations. I think you will find them as inspiring — and thought-changing — as we did. I hope you register today to participate!
A related upcoming gathering is the fifth RE(ACT) Congress in Toronto on May 8–10, which brings together rare diseases experts, researchers, patients and patient organizations from around the world. This year, NCATS is partnering with our rare diseases colleagues in Canada — along with the International Rare Diseases Research Consortium, which I chaired until last month — to bring the Congress to North America for the first time. I hope you will join us! Register now.
Our Rare Diseases Are Not Rare! initiative will have research as well as communications components, which you will hear more about in coming months. These innovations will improve the speed and efficiency of translation for all diseases, both rare and common.
Christopher P. Austin, M.D.
National Center for Advancing Translational Sciences