On Rare Disease Day, Let’s Dare to Be Rare

In the coming days, a great deal of focus will be placed on Rare Disease Day, which is Feb. 29. And for good reason. Approximately 7,000 rare diseases affect up to 30 million Americans. That’s almost one in 10 people in this country.

The National Institutes of Health describes some of the background, statistics, and definitions of these rare diseases, but the reality is that most of us know someone who has one — they’re more than listed facts.

My own disorder, limb-girdle muscular dystrophy type 2L (LGMD2L), is a rare disease. I have seen estimates of the prevalence of this genetic disorder ranging from five to 15 people per million. That means that in the United States, up to 5,000 people have this form of muscular dystrophy. Worldwide, we’re looking at up to 115,000. 

So what does all this mean? It means that we have an opportunity to raise awareness and to help others understand what it’s like to live with a rare disorder. These illnesses often have no cure or effective treatment, so we can also focus on solutions.

My previous columns about clinical trials and staying on the cutting edge aimed to help move us forward. We have never been closer to unraveling the medical mysteries of so many illnesses. The advances we’ve had in the last few years have been significant, and I believe we will continue to see major breakthroughs in coming years. That’s why I decided to start the LGMD2L Foundation and a patient registry.

The scientific element is critical, but it isn’t the only piece of the puzzle we need. Until we find the treatments and cures that we all dream about, we can focus on strengthening our day-to-day lives.

The disability community is so strong and resilient. Our great country has seen proud communities stand up for what they believe in before, with examples like feminist pride, black pride, Hispanic pride, and gay pride, to name a few. Disability pride is just as powerful. In fact, it’s one of the few communities that anyone can join at any moment, regardless of race, color, religion, economic status, or sexual orientation.

I realize that not everyone with a disability has a rare disease. But there is little doubt that the tens of millions of people living with rare illnesses are dealing with limitations. We add great strength and powerful numbers to the amazing disability community. And this community is fighting to effect positive change.

I have always been interested in the power of words, so I looked up the word “rare.” I found several interesting definitions, including “marked by unusual quality, merit, or appeal,” “distinctive,” and “superlative or extreme of its kind.”

I decided to go deeper, so I looked up “rare bird,” a term often used to describe people. The definition I found is an “exceptional individual, a unique person.” These definitions tell us something about what it means to be rare. I want to dare us to be rare. We are unique individuals and masters of living creatively.

As we approach Rare Disease Day on Saturday, let’s add to the power of the day in our own way. We will use the hashtag #WhatMakesMeRareMD to highlight what makes each of us special. If you are on social media, tell your story. 

Many individuals and groups around the world will be working for awareness this year. One example is a group in Europe I’ve spoken with that plans to merge art and science, with a series of music concerts and other activities. The title of the event is “A Rare Special Powers Journey Between Art and Science.” Follow their posts on social media at #RareSpecialPowers.

I am excited about this movement because it will bring us all together. Ultimately, our power is in numbers. And as I work with a coalition of LGMD groups to plan a lobby day event in Washington, D.C., I am buoyed by the excitement for movements like this. Let’s continue to work together, and together we will reach the stars!

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Note: Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to muscular dystrophy.