Raise Awareness of the Reality of Rare Disorders

Rare Disease Day logoWendy White, Founder and President of Siren Interactive, contributes this essay:

One in ten Americans is living with a rare disorder, but they are often overlooked in the media, in research circles, and in their local communities. The 2nd Annual Rare Disease Day on Feb. 28, 2009, is an opportunity to change that.

Typically, rare-disorder patients form their own small advocacy group but find it difficult to be heard. These patient communities may be the primary source of information about the disease and treatment options. Many of these patients have never met anyone else in person that has the same disorder, so finding ways to connect and share experiences and support is especially powerful. NORD, the National Organization for Rare Disorders, is an important umbrella group dedicated to helping these communities collaborate and impact public policy through programs of education, advocacy, research, and service.

To raise awareness of rare diseases and the need for safe, effective treatments, people around the world will join together to observe the 2nd Annual Rare Disease Day on the last day of February (Feb. 28, 2009). NORD is asking all organizations, companies, and individuals working with and/or interested in rare diseases to become a Rare Disease Day partner.

Actions you can take include:

Here are some facts about the prevalence of rare diseases:

  • A rare disease is defined as one that does not afflict more than 200,000 people in the United States.
  • 10% of Americans (about 25 million people) have some kind of rare disease
  • There are close to 7,000 known rare diseases
  • The National Disease Research Interchange reports that research on rare diseases often leads to a better understanding of more common diseases.

By designating a day to the awareness of rare diseases, we are giving a voice to many who feel isolated and alone. Rare diseases are really a public health issue, especially since rare diseases affect so many people, directly or indirectly.

Follow Wendy’s blog: SirenSong


Posted in: patient networks





29 Responses to “Raise Awareness of the Reality of Rare Disorders”

  1. Great to see you here, Wendy. Great topic, too.

    I need some help here from people who are wizards in the “long tail” concept. I most often hear it applied to Internet marketing – the discussion on Wikipedia is helpful, particularly the section about Chris Anderson and Clay Shirky – but several posts on our blog have discussed how it applies to rarer medical conditions.

    Of course e-commerce isn’t perfectly analogous to rare diseases, but that’s not the point. Understanding the long tail, as Shirky proposed, lets us see that there’s a ton of content in the tiny tiny parts – so much that it may outweigh even the biggest most obvious single thing. That’s true for Amazon’s book sales (“We sold more books today that didn’t sell at all yesterday than we sold today of all the books that did sell yesterday”) and Wendy’s post shows it’s true in a parallel way for health: more people have a rare disorder than have the the least rare disease.

    Here’s my take on it: Imagine there was a condition that affected 25 million Americans and they found it difficult to be heard. Well, there is, and that condition is “having a rare disorder.”

    And that’s where the Internet and e-patients come in. Back in August, summarizing chapter 7 of E-Patients: How they can help us heal healthcare, I put it this way:

    The Internet also adds something that was never before possible: today we (patients in need) can talk to peers around the world whom we’d never have met, to share experiences and knowledge. In a complete inversion of the previous “knowledge/power pyramid,” this sometimes means we the patients have access to knowledge that our doctors don’t!

    Think about that. Really think about it…it sure dynamites conventional wisdom about where to go if you want your life saved.

    Twice this week I told people I look forward to the day when every condition has a community comparable to the kidney cancer group that I found so powerful on ACOR.

    Hm, can NORD help create that? Do we/they already have online communities for a ton of conditions?

  2. RT @SusannahFox Posted: Rare Disease Day is Feb. 28 http://is.gd/irvi

  3. Susannah Fox at e-patients.net is blogging about Rare Disease Day – feel free to leave a comment: http://is.gd/irvi

  4. Wendy says:

    Thanks so much for your comments Dave,

    I have two thoughts:

    I agree that the principals of “long-tail” e-marketing applies really well to healthcare. We know from your blog and all the research here on e-patients.net that people are online searching for health related answers.

    There is a hunger in the rare disease community for the kind of umbrella organization for community sharing that you bring up. When we launched the facebook page yesterday there were already 15 specific rare disease pages that were waiting to link with NORD. I am really looking forward to seeing how this initiative grows over time.

  5. Brian Loew says:

    The NORD Rare Disease Support Community (http://rarediseases.inspire.com/) is an active online social network with several thousand members. Inspire provides this service for NORD, including moderation and support, free of charge.

    Working together with the NIH Office of Rare Disease and NORD, the site makes available the entire list of known rare disorders, currently over 7,000 in total. Members of the NORD community may choose one or more of these disorders as medical interests, and engage in all the things one would expect in a social network: make friends, join discussions, write blogs, etc. Importantly, members are able to control their individual privacy settings, deciding what to share and with whom.

    Here, for example, is a long discussion about Isaac’s Syndrome: (www.inspire.com/groups/rare-disease/discussion/isaacs-syndrome/) Take a moment to read it — you’ll see patients reaching out to one another with practical and emotional support.

    The NORD community is indeed the ‘umbrella’ community you describe. And there are other communities for specific rare disorders; here are a few:

    …for the Von Hippel-Lindau Family Alliance (http://vhl.inspire.com)

    …for the Foundation for Sarcoidosis Research (http://stopsarcoidosis.inspire.com)

    …for the Wilson’s Disease Foundation (http://wilsonsdisease.inspire.com)

    …for Neurofibromatosis (http://nfinc.inspire.com)

    The long tail of disease is perfectly-suited for the web. Distance disappears and privacy is enhanced. The discussions and blogs about rare disorders contain many ‘statistically-improbable phrases’ that make them ideal for discovery by search engines, which is a good thing, because it helps patients find them.

    Patients with rare conditions have always found one another through support groups, and have often by necessity become their own medical experts. Knowing that you are not alone, and working with others to take an active role in the treatment of your condition, makes all the difference.

    Brian Loew
    CEO, Inspire

  6. Susannah Fox says:

    Thanks, Brian, those communities are amazing examples of what can happen when the right people find the right technology.

    One of the challenges is making sure everyone who needs to find these resources is able to. The Pew Internet Project released our latest Generations Online report which shows how social media use tapers off among older adults. The charts are the best part (PPT).

    Email and search are the shallow waters of the internet pool. Everyone starts there, some people don’t go further. Social networking sites are in the deep end. I think some people dive in because they’re naturals, others venture because they are compelled by circumstance such as a rare disease.

  7. SusannahFox says:

    Welcome @rarediseaseday to Twitter! The conversation is also continuing on e-patients.net: http://is.gd/irvi

  8. Susannah Fox says:

    The Washington Post Health section features a great e-patient story today:

    Sharing The Pain: Rare Disease Puts an AU Economist in Touch With Fellow Patients Around the World

    From the site:

    “American University professor Arturo Porzecanski and RareShare.org co-founder David Isserman discuss the importance of giving people with rare diseases the ability to connect with each other.”

    Submit questions early and sit ringside at 12noonET.

  9. Wendy White says:

    The “deep end” of the internet pool that Susannah brings up is a great metaphor. For people with rare disorders there is frequently nowhere else to turn except the internet for the information and support their crave. They may find these communities through search (long-tail or otherwise) but their overwhelming need for connection and information cause them to be much more open to sharing.

    We know from this blog and others that the balance of who must keep the information is changing– and for people with a rare disorder it is clear that e-patients must shoulder a bigger burden. Here is a longer discussion from a recent blog post:


    Who dives in to online healthcare communities and who doesn’t might also depend on the availability of information elsewhere as well as the trust factor of where that information is coming from. I suspect the “trust” bar is lowered for people who have less access to information in the first place and who have to make healthcare decisions.

  10. Great article! and delighted to see such a response. What is happening around Rare Diseases online right now is fascinating.

    I like your metaphor of the ‘deep end’ Susannah and I would perhaps like to provoke debate by adding to your image something of the ‘open frontier’. While it’s always exciting to explore new horizons I feel that a time will also come to realize boundaries lest the ‘open frontier’ become the ‘wild west’! While social networks focused on Rare Diseases (due primarily to patient isolation and lack of information) represent an ideal terrain for connecting patients to each other and to quality information there is equally the potential for exploitation of patient trust and patient data. After all having been so neglected for so long rare disease patients are only too delighted to find such oases in the desert. I would like to see more transparency and indeed patient involvement at board level in emergent online communities to ensure that patient trust is embedded in the long-term future of these high-potential tools. Thus if emergent social networks have an exit strategy patients can have a say in the future (and future benefits) of a community which they themselves have helped forge.

    How secure is patient data in the context of any hypothetical business models reliant on industry? and what about good governance charters and online community management best practices, two emergent métiers where patients can play a huge role in providing shared experience and collaboratively enhancing the corpus of knowledge. Clearly these are issues that with time all stakeholders in the community will determine through consensus. What an exciting future!

  11. Interesting debate happening over at e-patients http://is.gd/irvi #rare

  12. SusannahFox says:

    WashPost Rare Diseases discussion was v good (http://is.gd/j2tK). If you want to keep talking about #rare join us: http://is.gd/irvi

  13. […] and so many others. Did you know rare diseases are more common than the most common disease? Rare Disease Day is Feb. 28. Might be a thousand points of pain every hour – in the US […]

  14. ePatientDave says:

    @gfry How appropriate w/ Rare Disease Day coming up 2/28. http://is.gd/irvi

  15. ePatientDave says:

    @gfry Result: uncommon diseases (the most common condition! http://is.gd/irvi) continue to go unserved. #medpedia

  16. RT Rare Disease Day actions you can take: http://budurl.com/esh7 #rare Please retweet.: Rare Disease Day actio.. http://tinyurl.com/ahs76o

  17. Bill Stadick says:

    RT: @skybluedesigns2 Rare Disease Day is February 28th http://tinyurl.com/asr59d #rare

  18. e-Patient Dave wrote “I need some help here from people who are wizards in the “long tail” concept.” We’ve been taking that approach in a general way towards diagnosis of rare diseases. It is great to have support groups once a diagnosis is made, but it is crucial to find the diagnosis without going through years of a diagnostic odyssey. Our software helps people diagnose 1,832 neurological and metabolic syndromes – it runs from http://www.simulconsult.com.

    There are a variety of sites that have groups for individual diseases or collections of many such groups. We discuss some of these in our “Health 2.0 for Neurologists” article at http://www.aan.com/news/?event=read&article_id=5277

  19. People may be interested in the article in today’s New York Times Magazine about diagnosing rare diseases
    (http://www.nytimes.com/2009/02/22/magazine/22Diseases-t.html). Running the case described in the article through our SimulConsult diagnostic software raises the possibility of some basement membrane disorders, the same type of diseases that the folks at the NIH are considering. We have a discussion on the Child Neuro listserv trying to figure out the diagnosis.

  20. Welcome, Michael! Got a link to that listserv for anyone who happens by?

  21. The listserv is at http://www-personal.umich.edu/~leber/c-n/e-mailUM.html, but membership “is restricted to pediatric neurologists, pediatricians, adult neurologists, and neurosurgeons”.

  22. Many medical listservs are restricted to medical professionals so as to encourage doctors to discuss details of a clinical situation in more detail than they would do publicly. There are plusses and minuses to doing so, but that is the choice they made.

    For this particular discussion the minuses are more evident since we are all operating from the public account of the case. However, if Dr. Gahl joins the discussion on the listserv or discusses the case with one of us the plusses would be somewhat more evident (but he hasn’t do so yet).

  23. Susannah Fox says:

    Here is a collection of photos of patients living with a Rare Disease who participated in the EURORDIS 2008 photo competition, just in case you haven’t wept yet today:


    No, really, check it out.

  24. Tomorrow is Rare Disease Day – please raise awareness! – http://tinyurl.com/asr59d

  25. […] is Rare Disease Day 2009. Join us in recognizing the reality of rare disorders and celebrating the beauty in the eyes of children living with rare disease and those who have lost […]

  26. Dagan says:

    Hey, is there a section just for latest news

  27. […] White of Siren Interactive supports Rare Disease Day. We ran her post about it last year; she’s back. Be inspired by this great cause – and be […]

  28. […] this year, as in 2009 and 2010, we’re pleased to highlight Rare Disease Day (February 28), with a post from Wendy […]

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