February 28th is Rare Disease Day – A day on which the rare disease community shouts to all that can hear RARE IS MANY, RARE IS STRONG, RARE IS PROUD!

By Tiina Urv

But what does that mean? Rare diseases are not rare? Rare is many - There are over 7,000 different rare diseases that have been identified and that number is growing. Collectively, in the United States 25-30 million people, over half who are children, have a rare disease. That is 1 in 10 people have a rare disease – this is almost as many people as have diabetes, and more people than have cancer, HIV, and Alzheimers combined.

Rare Is strong - Getting an accurate diagnosis of a rare disease is often referred to as the Diagnostic Odyssey. It can take over five years, with numerous misdiagnoses along the way. Most rare diseases are serious, if not life threatening. Medical visits are often based on how best to manage a condition, as 95% of rare diseases have no treatment or cure. Patients and families become warriors while on this odyssey of diagnosis and treatment.

Rare is Proud - Parents and patients must become experts on their conditions, teaching family members, teachers, physicians, politicians, the government, industry, and the world at large of the intricacies of their condition.

I would add another line to this mantra - Rare is Share – When first diagnosed individuals with a rare disease often feel as if they are the only one in the world with their disease. But that is often not the case. There are others out there who have been through the diagnostic odyssey, have struggled with payors or have cried in frustration over school meetings. Within the rare disease community, you will find a remarkable group of sharing, supportive and giving individuals and advocacy groups that are ready and willing to help.

So, on Rare Disease Day I ask you to take a moment and go to your favorite social media account and help raise awareness. The Rare Disease Day Organization has wonderful materials to share, which can be found here - https://www.rarediseaseday.org/

But wait - what happens after Rare Disease Day? What happens on March 1st, June 9th, September 16thor any other date on the calendar? For individuals with a rare disease and their families every day is rare disease day. What can you do on the other 364 days of the year? With 1 out of 10 people having a rare disease the odds are you, a family member or friend will have a rare disease in your lifetime. Learn more about the condition! Teach others about rare diseases. Reach out to patient advocacy groups and provide support. Participate in a fundraiser. There are hundreds of activities going on around the year – find one and always remember that each and every day RARE IS MANY, RARE IS STRONG, RARE IS PROUD.

More on Rare Disease Day from SAGE Publishing

Take a look at our rare disease microsite showcasing free to read, rare disease articles published across a range of SAGE Journals.

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Tiina Urv is the Editor in Chief of Therapeutic Advances in Rare Disease. She is a program director at the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). She manages the Rare Diseases Clinical Research Network (RDCRN), a multidisciplinary international program in the Division of Rare Disease Research Innovation (DRDRI). As the lead for the RDCRN program, Tiina collaborates with 10 NIH Institutes to provide oversight to20 multi-site consortia and a central Data Management Coordinating Center. The RDCRN has more than 176 participating sites in 12 countries and more than 160 Patient Advocacy Groups as research partners and conducts research on about 200 rare diseases.