rare disease: Awareness, Connection and Hope

February 29th, 2016 marked a rare day. Leap year arrived and gave us the gift that comes around every four years: An extra day to check things off our "to do" lists or (gasp) relax.

The twenty-four hour bonus day set aside to make sense of the solar calendar had more meaning for those of us impacted by a rare disease. Hundreds of thousands of people around the world acknowledged Rare Disease Day, an annual event. This day is big. It's about spreading awareness for marginalized populations, connecting to others and hoping for treatments and cures.

To honor the day, I spent the morning volunteering at the Peninsula Jewish Community Center, where staff members and I had the opportunity to talk with passersby. It was clear that for many, the topic wasn't one they thought about. A couple of people asked if their disease was considered to be rare. Some grabbed a few of the "rare" snacks from the table and went on their way; after all, this issue (unlike the food) can be hard to swallow. Almost all who stopped by asked a question or two and extended support for what we were doing. That's the spreading awareness part.

Another segment of people didn't know there was a "day" set aside, but their own experiences with rare disease made it easy for them to see the need. Their faces showed frustration and desperation, and when we engaged in conversation about the impact of their condition, expressions changed to bewilderment. One woman said, "I can't believe you know what I go through...my doctors don't even understand!" That sounds about right; it speaks to the isolation of being "rare." Shared experiences? That's the connecting part.

I was surprised by many who asked the same question, "Which rare diseases are you here for?" The answer, in short, was "All of them" and that seemed hard for some to digest along with their snacks. How could all of the rare diseases, and those affected by them, need this type of acknowledgement? My longer answer spoke to issues such as engaging policy makers, addressing the need for funding and increasing support. All of this translates to medical research, development of treatments and potential cures.

Most of us with rare diseases keep current on the research that's available. We know about our conditions, and we want others to learn. We appreciate when friends and loved ones know the name of our disease and how it impacts our lives. We want a bit more from our medical professionals, but the truth is that our own knowledge usually exceeds that of our doctors. This is not a statement of pride, but one of frustration. Complexities and unknowns about our rare diseases preclude us from getting the answers we desire. Still, we take care of ourselves and find ways to move forward in our lives; that's the hope part.

We do a lot in the name of hope. We search the Internet for in-person support groups (yet often find there are none close enough). Onto our Facebook apps; thank goodness for virtual empathy and information through our online connections. We talk on the phone with strangers who have the same disease, as if we're long-lost friends. If we're lucky, we have national organizations like RSDHope and RSDSA (for those like me who are impacted by RSD/CRPS) which work hard to promote research and provide advocacy, information and support. We head to conferences, knowing for certain there will be a physical price to pay, in anticipation of meeting people who can truly relate.

Rare diseases get one official "day" each year, yet our reality extends to the remaining 364 (or 365) of them. There are so many advancements in the worlds of science and medicine, so who knows? By the time the earth rotates around the sun once more before Rare Disease Day next February, some of us may get life-changing news. At the very least I hope that all of us, including those who are not directly impacted by a rare disease, will learn something new.

For more information about Rare Disease Day or rare disease in general, you may visit: www.RareDiseaseDay.org and www.RareDiseases.org

What is something you would like people to know about living with a rare disease?
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