Raise Awareness of the Reality of Rare DisordersComments on: --

By: Rare Disease Day 2011: “Raise Your Hand To Help Millions of Americans” | e-Patients.net

Sun, 27 Feb 2011 15:01:53 +0000

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

By: “Alone we are rare. Together we are strong.” Rare Disease Day 2/28/10 | e-Patients.net

Mon, 22 Feb 2010 03:49:04 +0000

[...] 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 [...]

By: Dagan

Dagan — Mon, 16 Mar 2009 21:40:57 +0000

Hey, is there a section just for latest news

By: Rare Disease Day 2009 | e-Patients.net

Rare Disease Day 2009 | e-Patients.net — Sat, 28 Feb 2009 19:51:29 +0000

[...] 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 [...]

By: healthythinker

healthythinker — Fri, 27 Feb 2009 18:34:24 +0000

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

By: Susannah Fox

Susannah Fox — Thu, 26 Feb 2009 16:55:25 +0000

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:

http://www.youtube.com/watch?v=bqEKxygDZg0

No, really, check it out.

By: Michael Segal MD PhD

Michael Segal MD PhD — Mon, 23 Feb 2009 23:11:47 +0000

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).

By: e-Patient Dave

e-Patient Dave — Mon, 23 Feb 2009 02:26:56 +0000

Why?

By: Michael Segal MD PhD

Michael Segal MD PhD — Mon, 23 Feb 2009 02:14:58 +0000

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”.

By: e-Patient Dave

e-Patient Dave — Mon, 23 Feb 2009 00:15:11 +0000

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

By: Michael Segal MD PhD

Michael Segal MD PhD — Mon, 23 Feb 2009 00:09:11 +0000

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.

By: Michael Segal MD PhD

Michael Segal MD PhD — Sun, 22 Feb 2009 23:59:48 +0000

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

By: Bill Stadick

Bill Stadick — Sat, 21 Feb 2009 22:48:21 +0000

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

By: PleaseRetweet

PleaseRetweet — Sat, 21 Feb 2009 01:18:52 +0000

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

By: ePatientDave

ePatientDave — Wed, 18 Feb 2009 03:10:02 +0000

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

By: ePatientDave

ePatientDave — Tue, 17 Feb 2009 19:26:33 +0000

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

By: A thousand points of pain | e-Patients.net

A thousand points of pain | e-Patients.net — Sun, 15 Feb 2009 01:37:38 +0000

[...] 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 [...]

By: SusannahFox

SusannahFox — Tue, 10 Feb 2009 22:07:33 +0000

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

By: Rare Disease Day

Rare Disease Day — Tue, 10 Feb 2009 16:51:37 +0000

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

By: Denis Costello

Denis Costello — Tue, 10 Feb 2009 16:50:11 +0000

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!