Rare Disease Day 2023: Significance, Simple Ways To Join The Cause

On Rare Disease Day, we raise awareness about the many rare diseases in the world and the millions of people who are living with them.

Rare Disease Day is observed at the end of February each year — on Feb 28 or, if it's a leap year, on 29 as it's "the rarest day of the year." The idea is to mobilize a worldwide effort for "equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease," according to RareDiseaseDay.org.

Some 300 million people worldwide are living with a rare disease. In the U.S., it is estimated that some 10,000 rare diseases are impacting about 30 million people, according to the National Institutes of Health (NIH).

Unfortunately, these diseases are hard to diagnose. It may take years for someone to get accurately diagnosed. And even then, treatments aren't always readily available as less than 500 rare diseases have FDA-approved treatments, noted the NIH.

On Rare Disease Day, many events are organized worldwide to raise awareness and advocate for the needs of people living with rare diseases on both local and international levels.

In the U.S., for instance, the NIH will hold a free Rare Disease Day event, which will include panel discussions on such diseases. It will highlight the stories of people living with rare diseases, as well as their families and communities.

"Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments," the agency noted.

"Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose," according to RareDiseaseDay.org.

Today, you can join the cause by taking the time to attend a Rare Disease Day event near your location. People can also opt to listen to or look into the stories of those living with a rare disease and those caring for them. You can read some incredible stories here. On the flip side, those living with a rare disease can use the opportunity to share their stories so that others may understand the condition better.

People can also use the day to read more about rare diseases. For instance, you can learn more about Adie Syndrome, which is a rare neurological condition wherein the patient's pupils are typically dilated to appear larger than normal and are slow to react to direct light. In most cases, the cause of the condition is unknown.

Or perhaps they'd like to learn more about the relatively newly described Auditory neuropathy spectrum disorder (ANSD), which is a hearing loss condition wherein the person's ability to hear and understand speech is affected because of a defect in the inner ear. Because of this, the sounds entering the ear are not quite transmitted to the brain "adequately." People with the condition perceive speech as "distorted and hard to understand."

These are only a few of the many rare diseases affecting millions all over the world. By learning more about them, people not only learn about the plights and needs of those living with such diseases, but also will have a better understanding of why there is a need to advocate for them today and beyond.