Rare Disease Day

Today, February 28th, is Rare Disease Day around the world. Celebrated annually on the last day of February, it is a day to celebrate the millions of individuals living with rare disorders who persevere and thrive against tremendous odds. The truth is, many of these diseases (there are over 6,000) are so rare, no one has ever heard of them, including doctors and those who work in the life sciences industry. Consequently, rare diseases get virtually no research funding when compared to the more common diseases that affect millions of people. Even with government incentives the funding gap is astronomical. Worse, some rare diseases have so few patients worldwide that it is nearly impossible to organize a foundation, raise money, and offer support and resources. This only magnifies an already frustrating situation.

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That’s what makes Rare Disease Day so important. It is a day where all rare disease patients, collectively, come together as one community. It provides a platform to impart on lawmakers, scientists, and the general public how important it is to support rare disease research, and to raise awareness for some of these conditions. Around the world, ceremonies take place in civic spaces and government buildings, allowing for a diverse set of stakeholders to see firsthand the human impact of living with a rare disease.

I was honored to be part of the festivities last Rare Disease Day at the Massachusetts State House in Boston. I was invited by MassBio to be a patient speaker in the celebration, and gave a short speech in front of over 400 people. It was both thrilling and therapeutic. I met many wonderful patients with other rare diseases, along with advocates and scientists committed to finding treatments and cures. Several people had never heard of my condition (Miyoshi Myopathy), so it was also a great opportunity to educate.

This year I will be working, so I will not be able to make it to my local ceremony in Hartford. However, my thoughts will be with those who will share their patient stories and captivate audiences around the world.

On this day, our collective disorders are not so isolating. It is hard to put into words how much that means.

2 thoughts on “Rare Disease Day

  1. Right after my son was diagnosed a few years ago, I was stunned to hear about Rare Disease Day–unless you’ve got a rare disease, I guess you don’t know there’s a group of people in your corner. I remember it being so new and the hurt I felt for my kid so raw, that I couldn’t even read about it. Denial, or something like that. . . You captured it and expressed it so very well here. Time allows perspective, and now I can read about it in an informed way. Thanks for this, Chris.

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