Extremely rare, incredibly typical

After nearly 15 years tracking the cultural shifts happening at the intersection of health and the internet, I know a few things.

#1 – don’t get between a parent and a piece of information he or she needs to make a decision about the health of a child.

#2 – from 28.8 modems to the latest smartphones, any piece of tech is going to turn into a medical device in the hands of an e-patient.

#3 – the most exciting trend I’ve seen, by far, is (…drum roll…) people talking with each other. No app, gadget, or site can match the ingenuity and sheer potential good that comes from communication between two or more people who share the same condition.

I learned all three of those lessons while spending time in communities of people living with rare diseases.

That’s why, when Rare Disease Day rolls around each year, I take a moment to say thank you to these amazing people who are, yes, extremely rare, but also incredibly typical. They have taught me that their concerns, strategies, and grit are universal.

Each time I dive down into a community, I come up with the same pearls, from Marfan, McCune-Albright, and Moebius to ALS and cancer. From diseases you’ve never heard of to others that make you shiver in recognition: these people love, live, strive, ask, and answer. They push for better drug discovery. They ask for access to their records. They track symptoms and MacGyver their way out of tight spots.

Spend a little time exploring the world of rare disease today. And say thank you. They’re making health care better for all of us.

5 thoughts on “Extremely rare, incredibly typical

  1. As someone living with a rare disease, gauchers, thanks for recognizing we exist. As a bit of history, we started communicating thirty-five years ago with a cut and paste copied news letter sent by snail mail and continue to do so today with a a quite old yahoo group. You are right, the human touch makes all the difference and BTW, friends.

  2. I have had much success with readily available dietary supplements and various foods. The National Institute of Health has a clearinghouse for complementary and alternative medicine. It seems that in this universe God saw to it that there are natural remedies available for what ails us. It says in Genesis ” and God saw All that he made and behold it was very good”. I do believe in modern science but it seems that there is much yet to be learned and discovered. I have a mild case of Gaucher Disease type 1. Shalom

  3. I spent today at the NIH Rare Disease Day symposium, so please accept my apologies for the slow approval for your comments! It was truly an amazing day — great speakers on the stage, but also great people in the hallways. No group inspires me more than the rare disease community.

    The 8-hour video of the main stage proceedings will be up in a week:
    https://events-support.com/events/NIH_Rare_Disease_Day_2014/page/447

    I learned from every speaker, but esp. appreciated talks by Francis Collins (on a couple of cases which motivate him), Amy Dockser Marcus (on why including patients as full research partners is important), Christopher Austin (on the need to lower costs of rare disease treatments), William Heetderks (on “common devices”), and Ronald Summers (on radiology – some very futuristic stuff).

    I loved meeting some people in person I’ve only known through social media, like Katherine Leon of the SCAD Alliance and Jack Whelan, a blood cancer survivor. Plus I made new friends, like Michael Raymond, whose son was recently diagnosed with a rare condition, and Mary Stojic of the LAM Foundation. Each and every person shared an insight or a story that was keynote-worthy, it was just that kind of a day.

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