Rare Disease Day: What Is It and Why Does It Matter?

By Nicole Choy

Every year, on the last day of February, patients and families all over the world celebrate Rare Disease Day.

What is a rare disease?

What defines a rare disease varies by country, but in the United States, the NIH defines a rare disease as a disease that affects fewer than 1 out of 200,000 individuals. And while it may seem that the impact of rare disease is small, it is estimated that approximately 30 million people are living with a rare disease within the U.S. alone, and more than half of those individuals affected by rare disease are infants or children. That is approximately 1 in 10 Americans, according to the National Organization for Rare Disease (NORD). There are approximately 7,000 rare diseases, and individuals living with a rare disease are often misdiagnosed or go undiagnosed.

What is the purpose of Rare Disease Day?

Organized by EURORDIS: Rare Disease Europe, Rare Disease Day’s main purpose is to promote awareness and education for the public. It “also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.” With 7,000 known rare diseases, many of which are not being researched at this time, and many more diseases yet to be diagnosed, promoting awareness is the first step in working towards more effective management, treatments, and even cures for the millions of individuals whose lives are impacted by rare disease every day.

Each year, Rare Disease Day has a theme, and the theme for Rare Disease Day 2019 is “Bridging health and social care.” Patients with rare diseases and their caregivers experience daily challenges. In addition to doctors appointments and visits with specialists, management of their disease may require the use of special equipment or social and community support. All of this can take a toll, significantly reducing the amount of time that can be dedicated to other things, such as work or leisure time. A Europe-wide survey completed by EURORDIS concluded that management of a rare disease poses significant challenges to daily life, some which can affect the mental and emotional health of individuals living with the rare disease. The focus for this year’s Rare Disease Day is to open the discussion on how physicians, healthcare providers, social and community support organizations, and policy makers can work to ease the burden on those whose lives are impacted by a rare disease.

How can I get involved?

The best way to get involved in Rare Disease Day 2019 is through education! After all, the purpose of Rare Disease Day is to promote awareness and education about the millions of people worldwide who are living with a rare disease. Organizations like the National Organization for Rare Disorders (NORD) and Global Genes are dedicated to connecting individuals within the rare disease community, and educating the general public about rare disease. Both organizations have useful resources for people to learn more about rare diseases and how they impact the lives of individuals living with them, and their families or caregivers.

If you’re interested in hearing first-hand accounts about how rare disease impacts the lives of those who live with rare disease or their caregivers, check out these podcast episodes from Patient Stories by Grey Genetics:

• Homocystinuria: A Rare Disease Often Missed on Newborn Screening with Danae Bartke
• New in the Family: Ford and CTNNB1 with Effie Parks
• A Fatal Family Disease & the Flip of a Coin with Rachelle Dixon

If you or someone you know is living with a rare disease, or if you just want to support and spread awareness about rare disease, you can get involved in promoting awareness for Rare Disease Day by participating in the official #ShowYourStripes social media campaign! Or you can participate in a Rare Disease Day event happening near you! To see a list of events, check out NORD’s list of Rare Disease Day events happening in the US.

For patients:

• If you or someone in your family is living with a rare disease and you are curious about how this may impact you or your family, consider meeting with a genetic counselor. You can schedule a telehealth cancer genetic counseling appointment online here.
• Do you have a story to share related to rare disease and genetic testing? Check out our Patient Stories podcast. We would love to interview you and share your story.

For healthcare providers:

• If your patient is showing multiple signs or symptoms that are not commonly seen together, consider referring them a genetic counselor!
• If your patient is showing signs or symptoms at a young age that you commonly see only in older individuals, consider referring them to a genetic counselor!
• Pay attention to a patient’s family history, but keep in mind that often an individual with a rare disease may not have any related family history. Consider referring them to a genetic counselor!

Looking for more support for your practice to keep up with all the rapid changes in genetics? Check out Grey Genetics’ support packages to find the option that works best for your practice.