Rare Disease Day Isn’t Only About Spreading Awareness

As the end of February approaches, Rare Disease Day, held annually on the last day of the month, is exciting for most of those who live with a rare disease. But every year, something about this day just doesn’t sit right with me.

This year, instead of showcasing the plumage of my unmistakable Friedreich’s ataxia (FA) symptoms like a proud peacock, I’m asking myself what the point of Rare Disease Day even is.

Maybe the problem lies in my perspective. After all, the point of Rare Disease Day seems obvious to others: to create awareness about the challenging reality of rare diagnoses. Don’t get me wrong, I’m astoundingly grateful for the awareness this day creates. But awareness alone is useless. It is only the first step in treating disease, and ultimately, in developing cures.

But how can I write dismissively about raising awareness on a website that exists to raise awareness about FA?

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OK, truth be told, somehow I’ve deluded myself into believing that awareness is the end goal of Rare Disease Day. True, if it were, Rare Disease Day would be pointless. After all, changing a social media profile to “Friedreich’s Ataxia Awareness” certainly won’t stop my nerves from becoming unresponsive. And sharing a snappy YouTube video certainly won’t prevent another FAer from dying.

Thinking about it further, I suspect that the lack of progress with my FA symptoms after being diagnosed in 1998 had convinced me that awareness was all I could hope for. And if that were true, what’s the point? Having a stadium full of people cheering me on as I combat FA’s progression? That won’t make my life better or last longer, so I smugly had dismissed the idea that Rare Disease Day was worth my time.

But if raising awareness isn’t the only goal of it, but rather a necessary starting point for real progress? Well, that changes everything. Suddenly, the curmudgeon in me can recognize that Rare Disease Day is a brilliant first step toward letting others know that there is a problem most people aren’t aware of. And despite my pessimistic views, I’d be foolish not to realize that it’s working.

Consider these three facts:

• Spinal muscular atrophy (SMA), another rare neuromuscular disease, currently has various approved therapies. (I wrote an earlier column about this topic.)
• My friend Richard, a columnist for AADC News who lives in Thailand, has a daughter who is one of about 135 AADC-deficient patients in the world. He is inspired and excited by the very real possibility of treatment for his daughter’s super rare disease. Creating awareness about AADC deficiency helped to generate momentum for change.
• The Friedreich’s Ataxia Research Alliance maintains an updated list of the research pipeline for potential FA treatments, and the number of investigational treatments currently being researched is staggering. While no treatment has yet been approved or made available for FA patients, it seems like the number of potential ones is increasing every year.

SMA, AADC deficiency, and FA are only three of over 6,000 rare diseases that have seen progress in the area of treatment, thanks to greater awareness. So, instead of thinking that Rare Disease Day does nothing but generate spectators, I now understand that raising awareness is just the first part of our journey toward a brighter future.

But progress doesn’t end there. So, let’s get going.

Note: Friedreich’s Ataxia 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 Friedreich’s Ataxia News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Friedreich’s ataxia.