Why Rare Disease Day Matters

Last holiday season, I organized a gift-wrapping fundraiser for the National Organization for Rare Disorders (NORD) at a bookstore. One of my “customers” jokingly said, “Rare diseases? Right, because you wouldn’t want to raise funds for any of those common diseases, would you?”

Genzyme Rare Disease Day Relay 2014

Genzyme Rare Disease Day Relay 2014

He said it good-naturedly, but his lack of understanding about rare diseases truly bothered me. I tried to get him to imagine what it would feel like to be diagnosed with a disease so rare that most doctors have never heard of it, and only a handful of people in your vicinity (or even in the world) have the same diagnosis. For example, only 1 in about 320,000 people in the U.S. have the genetic defect that can cause Tay-Sachs disease. I wished I could adequately tell him some of the many stories I’d heard directly from those living with rare diseases.

But he just wanted to get his gifts wrapped and go home.

If I hadn’t been lucky enough to get a job at Genzyme, I wonder if I would be equally oblivious. I know for certain that my worldview has become much deeper by meeting so many individuals dealing with life-changing illnesses and struggling through daily challenges to find hope and a reason to believe that they aren’t alone.

Rare Disease Day in Thailand

Rare Disease Day in Thailand

International Rare Disease Day, commemorated annually on the last day of February, is an incredible opportunity to explain to people like that man at the bookstore what rare diseases are and why they matter. It also provides a platform for the entire rare disease community – which is much larger than one might think, since 1 in 10 Americans have a rare disease – to join together in common cause and get their voices heard.

Over the past three years, I’ve gotten progressively more involved in Genzyme’s Rare Disease Day initiatives, from leading the team that organizes our annual Rare Disease Day Relay to creating and editing the content for a Rare Disease Day microsite. I’ve sought out these projects in particular because I believe in what we do as a company and what Rare Disease Day aims to accomplish.

And I want to live in a world where understanding is less rare than it is today.

This post first appeared on Speaking of Sanofi.

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2 Responses to Why Rare Disease Day Matters

  1. Emma Rooney says:

    Jessi the customer’s comment made me laugh! & that’s what we have to do and then use it as an opportunity to educate. It’s not a competition between common and rare but in an attempt to raise the profile of conditions people have never heard of sometimes I feel that people get threatened when in reality rare disease, as a total, impact a lot of people & further to that point, people with rare diseases aren’t immune to “common” conditions and are actually more likely to have to deal with a double whammy (triple…).
    I love all the communication you do on behalf of rare disease community! Thank you. I too “want to live in a world where understanding is less rare than it is today.”

  2. Erica says:

    Thanks for this post; I agree w what Emma said, people are just terribly un-educated bc our Society does a terrible job of advocating for all diseases big, small, round, square, common or un-common. But that’s what all of us working together are for – patients, advocates, employees we are all making a difference, educating one person at a time! :)
    Am sharing this on my fb –
    Thanks,
    Erica
    http://www.rarelydefined.blogspot.com

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