Tag Archives: rare diseases

A Culture of Blame: Stigma in the ER (Rare Disease Day 2015)

Emergency Room Visit (November)

Today is Rare Disease Day. I love Rare Disease Day. I’ve loved it for a long time. Usually I try to blog something upbeat, useful, and inspiring (2014, 2013, 2013b, 2012), but that’s not what’s going to happen today. Today it is time for a sad, disturbing story; one of stigma, assumptions, miscommunication, misunderstanding, anger, hurt, laughter, pain; all nicely wrapped up as a great example of social media gone wrong.

Something I know from personal experience is that when someone has an undiagnosed, misdiagnosed, or mismanaged health care condition, they tend to get to a point where they spend an unusual amount of time in the Emergency Room. These are, shall we say, usually not a person’s happiest moments. People with rare conditions are more likely than not to have gone through a period of time in which their condition was not properly diagnosed. There are excellent reasons for this, with the largest one being that clinicians are taught explicitly to err on the side of assuming their patients are relatively ordinary, rather than extraordinary or unusual, or rare. This is included in medical slang as the word “zebra,” implying that people’s diagnoses are more likely to be a “horse.”

Rare Disease Day 2015
Rare Disease Day 2015, by Violent Bloom.

Thus, the patient who genuinely IS rare, while statistically unlikely to appear under the care of any particular healthcare provider is rather more likely to have experienced a great deal of misguided, inappropriate, and ineffective care. They are also likely to have experienced these trained-in assumptions presenting in uncomfortable ways which undermine them as a credible person, from “if you’d just try” to plain old rudeness to being told “it’s all in your mind.” And when healthcare professionals find it hard to believe the suffering person, often their friends, family, colleagues, and acquaintances follow suit. These comments, rarely intended to be hurtful, but hurtful nonetheless, have been being captured via Twitter with the hashtag #heardwhilstdisabled.

Twitter: Heard Whilst Disabled: https://twitter.com/hashtag/heardwhilstdisabled?src=hash

I learn a lot about compassion and the real lives of persons with chronic illness from conversations on Twitter, on Facebook, and from lurking in support groups for various conditions. Usually, I joined the group when I myself was misdiagnosed with some condition, as part of my own rare disease journey (although mine turns out not to be so terribly rare, just rarely diagnosed). There are a lot of these groups, countless ones. Even just looking for chronic pain groups on Facebook, there are easily close to 100 of them! In these groups (and on Twitter, and in other social media spaces), something that comes up almost every day are stories of someone who went to the emergency room, and was unable to get the care they believed they needed and deserved because they were assumed to be a) drug seeking; b) attention seeking; c) misrepresenting their symptoms; d) liars; e) mental health patients (which is too often interpreted as not a credible reporter, or the pain “is all in your head”); f) that they don’t really have the condition they say they have; g) … well, it goes on and on.

Yesterday, in one of these support groups, someone alerted the rest of the group to a blogpost written last week by an emergency room nurse that has taken off in a rather viral way. And it is spreading. People are sharing the post to other support groups. Patients are up in arms. They are complaining to her employer. They’ve phoned her supervisor. They are filing official complaints. It’s all a nasty piece of business. Meanwhile, the nurse in question posted the link to her own Facebook page in a jocular way, with public viewing permissions, and various healthcare colleagues and friends have gone to town with it, joking, sending virtual high-fives, and sharing it. Widely. Lots of comments and around 50 shares. The blogpost itself has, as of this writing, well over 115,000 views, according to the counter on the page. Just to make it even more … awkward, the blogpost itself and the comments on the Facebook post both imply that this was written while the nurse was on duty at her job, as triage nurse in the Emergency Room.

trauma blur
Trauma Blur, by Mike Beck

OK, brace yourself. Here’s the post that has the patient communities so upset, and the nursing community so entertained.

Wainwright-Morrison, Kimberley. Confessions of an ER Nurse: This is probably your fault, not mine. Feb. 23, 2015. http://www.kimberlywainwright-morrison.com/413380011/2549810/posting/confessions-of-an-er-nurse-this-is-probably-your-fault-not-mine

Where does this go wrong? In the title, as soon as the word “fault” is used. “Fault” implies “blame.” Placing blame is a great way to attract blame. It immediately creates an us vs. them mentality. Because this is written by a nurse, the title alone will tend to push patients to feel defensive, and to likely misunderstand the intended message of the post. If the point of the post is to actually change patient understanding of the emergency room protocols, policies, and capabilities, it needs a new title. If the goal is to change patient behaviors, ditto. Some of the (presumed) nurses on Facebook suggested giving every patient a copy of this post at the triage desk. Hmmm, might want to rewrite it a bit first.

The focus of the Wainwright-Morrison post is on the non-compliant patient, a topic which is kind of a pet peeve of mine. Not to diverge too much (and I’ll try to make a separate post on ‘noncompliance’), I’ve been writing about this for a very long time. In our 2002 book, I argued in favor of the idea that “patients have reasons for being non-compliant,” that calling patients non-compliant is actually patient-blaming and unproductive, and that informed consent implies people deserve the right to make decisions which the experts might not agree with.

“Our personal belief is that it is neither realistic nor ethical to attempt to control or proscribe access to health information. Nor is it realistic or ethical to legislate or prescribe what health care consumers do with health information once they find it.” PF Anderson. “Introduction: Empowering Patients.” Anderson & Allee. Medical Library Association Encyclopedic Guide to Searching and Finding Health Information on the Web.

The problem with the term “non-compliant” is that as soon as that phrase enters the conversation it places blame for the patient’s problems on the patient themselves. It also absolves the healthcare system of the need to find out why the patient isn’t “complying.” Did they not understand the directions? Did they understand but disagree with the instructions? Does the patient believe that a different medicine or treatment would be more appropriate? Does the patient have the support system in place that would make that treatment even possible? Could they not afford the medicines? Could they not get to the pharmacy? Could they not arrange delivery? Did they believe that they already have another medicine they think will do as well? Did they take the medicines at the wrong day/time/place? In the blogpost, there is a stated assumption (judgment?) that if a patient “can’t afford” the medicine, that they are actually lying and choosing to instead spend money on other optional pleasures.

“It is not appropriate for you to save your last $30 for your manicure or your beer or your cigarettes. You can afford a prescription. MAKE IT WORK. Everyone else has to take care of themselves; I think you can also manage.”

Which leads to more questions — does the patient actually have the executive function capabilities that would allow them to control the impulses and “make the right choice”? Is the pain or disability or condition effecting on their memory? Did the healthcare provider explain things in a way that the patient actually understood? Did they confirm that understanding? Did the patient just nod and say, “Yes,” whether they understood or not?

Now, despite my admitted bias against a focus on the “non-compliant patient,” part of what drives me in this direction is in an effort to counterbalance the enormous numbers of folk actually working in healthcare who feel the opposite. I suspect that deep down, we are saying the same things, just in different ways, but the way you say a thing, the way an issue is framed, can completely change how it is heard, how solutions are designed, and how effective those solutions might be. And obviously, there are a LOT more people who feel differently than I do about the idea of calling patients non-compliant. Most of them have hearts as big as all outdoors, and they GENUINELY really want to help patients and help make their lives better.

Which is the case for Ms. Wainwright-Morrison. She is a good person. She loves her job. She means well. She works hard. She tries to make a difference in ways that count. She tries to help people, both at work and on her own time. She takes time outside of work to help multiple charities; she is on the coordinating team for “Giving More” a non-profit focused on helping those in need. In her bio on the Giving More site, Ms. Wainwright-Morrison describes herself as “passionate about educating her patient population in regards to making their health and compliance a priority in their lives.” I respect that. I respect what I believe she is trying to do, hoping to accomplish. I do not feel that this particular blogpost succeeds in moving those goals forward.

In the patient forums, I’ve been reading post after post that takes the blogpost apart, line by line, example by example. Patients are telling story after heartbreaking or uplifting story of times when what happened in the emergency room in their lives does not match the descriptions provided by Ms. Wainwright-Morrison. Patients with the conditions she explicitly addressed (such as high blood pressure and sickle cell anemia) were particularly offended.

On the other hand, there are many other nurses, healthcare providers, and emergency room workers are emphatic that the blogpost accurately describes some common categories of patients. Many feel strongly that Ms. Wainwright-Morrison is being honest, accurate, and should be protected from the public outcry against the blogpost.

One particularly sad bit of collateral damage from this was a nurse with chronic pain in one of the support groups. She tried to explain to the other patients in the forum that what is described in the blogpost reflects standard policy in most Emergency Rooms, that there is a HUGE disconnect between what patients expect from the ER visit and what ER teams are actually allowed to do. She also explained that nurses tend to stick together, because they understand what they go through in their job, something that may not be understood by either patients or doctors. For this, she was banned from the support group. This breaks my heart.

So, this is sad, sad, sad, all the way around. Patients are hurt. Nurses are hurt. The reputation of the hospital is being hurt. The structure and nature of the support group(s) is/are being damaged. I don’t see anyone coming out ahead with this the way it is taking shape right now. It’s a lose-lose all the way around. People are on the attack or on the defensive. The conversation is polarized, instead of becoming collaborative and solution-focused.

I do NOT want to see Ms. Wainwright-Morrison lose her job, unlike some others, because this is a problem that is rampant throughout healthcare, because she was and is being encouraged to hold these opinions by the culture of her institution. I would like to see solutions being focused at an institutional level instead of individuals. Just because these opinions could cause serious reputation problems for her and her institution does not mean that making her a scapegoat would be a productive path to follow. Actually, I suspect the reverse. As long as institutions are permitted to “address” systemic cultural attitudes and issues by making scapegoats of individuals, the underlying attitudes will never change. Behaviors might change, in public, but it won’t actually support REAL change, the kind that is needed.

We need change. We need cooperation and collaboration in changing from an assumption of “non-compliance” to discovering and addressing the barriers to healthcare solutions and treatments for each person.


Rare Disease Day: http://www.rarediseaseday.org/
– Rare Disease Day Flickr Stream: https://www.flickr.com/photos/rarediseaseday/
– Rare Disease Day US: http://rarediseaseday.us/
– Rare Disease Day Virtual Swag: http://www.rarediseaseday.org/article/get-involved-download-our-communication-materials

NIH: Rare Disease Day: http://rarediseases.info.nih.gov/news-and-events/pages/28/rare-disease-day

Global Genes: Rare Disease Day: http://globalgenes.org/world-rare-disease-day/
– Global Genes: RDD Virtual Swag: http://globalgenes.org/wear-that-you-care/
– Global Genes: Genes and Jeans (Awareness Ribbon): http://globalgenes.org/blue-denim-genes-ribbon/

UPDATE March 5, 2015

DELETED: The posting in the original support group site.
DELETED: The patient posts and commentary to the hospital’s Facebook page.
DELETED: The original blogpost.
DELETED: The entire domain name for the nurse’s blog.

I don’t know what happened with the nurse. Of course, I kept copies and screenshots, just in case something like this happened, but I still feel this is unfortunate. I thought this had the potential to be an opportunity for learning & conversation & change. That’s unlikely now. And that’s sad. We need the change, the conversation that leads to thinking differently, hearing each other’s side, learning to understand the other’s point of view. We don’t need bullying. We don’t need silence around these issues. What we need is understanding, mutual understanding, and the opportunities to create understanding.


Between Privacy & Transparency Comes Invisibility & Visibility (Rare Disease Day 2014)

Pic of the day - A Crossbanded Sky

Today is Rare Disease Day 2014. I’ve been an enthusiastic promoter of Rare Disease Day and everything it stands for since the first one on February 29th of 2008. A friend of mine, Denise Silber, was instrumental in the activities behind its beginnings in Europe, and at that time I was intimately involved in my own work life with dentistry and facial difference, where birth defects and rare diseases are often looming concerns for clinicians and caregivers. Since then my work has often dealt with healthcare social media, where issues of privacy and transparency loom large. I’ve been spending a great deal of time in the past year or so thinking deeply about privacy and transparency issues, as part of writing my book chapter for the recent Barbara Fister volume from ALA.

My new book chapter on privacy & transparency
Finding a public voice, Barbara Fister as a case study: http://www.alastore.ala.org/detail.aspx?ID=10691

This morning, catching up on email and Twitter, there were two pieces made me perceive differently the pivotal role of privacy and transparency in healthcare communities, both versions of which ultimately tie into the same foundation.

“For one, letting a website know you’re using a screen reader means running around the web waving a red flag that shouts ‘here, I’m visually impaired or blind!’ at anyone who is willing to look. It would take away the one place where we as blind people can be relatively undetected without our white cane or guide dog screaming at everybody around us that we’re blind or visually impaired, and therefore giving others a chance to treat us like true equals. Because let’s face it, the vast majority of non-disabled people are apprehensive in one way or another when encountering a person with a disability.”
Marco Zehe. Why screen reader detection on the web is a bad thing. http://www.marcozehe.de/2014/02/27/why-screen-reader-detection-on-the-web-is-a-bad-thing/

This highlights the issue of persons being excluded from mainstream society while they are visible, and seeking anonymity or invisibility in order to be accepted and treated “like everyone else.” There are many other examples like this — any condition related to facial difference carries stigma; any condition that makes difference visible (such as wheelchairs or service animals or assistive technology); other social situations that might be visibly connected to stigma, such as race, poverty, gender, gender identity, etc. In this context, visibility is … awkward, and sometimes painful. Or rather, it is the situation of being visible while being made to feel invisible at the same time. Alternatively, if acknowledged as visible, they may be objectified, as a token representative of the disability or stigma, or with the assumption that they are incapable or insufficient in some way. In these communities, people sometimes find that by making themselves differently visible, such as being in online communities, they are no longer put in the position of being pushed into pseudo-invisibility or are given the opportunity to succeed or fail, to contribute based on their own capabilities as an individual, not being judged by their situation or condition or disability.

It is hard not to next think of conditions or situations in which the condition, situation, or context begins with invisiblity — mental health, diabetes, chronic fatigue or chronic pain, many other chronic illnesses. For many of these (and I count myself among them), the person has genuine restrictions on what they can do, but this is not evident to others, who expect the person with the invisible disability to be able to do much more than they really can. It isn’t uncommon to hear “but you look normal.” It isn’t just invisible disabilities, of course, but also the social or cultural context. Did you grow up poor or battered or otherwise traumatized, and now feel as if you don’t ‘belong’? There are times, as a person with invisible disabilities, that I wish I had a sign to say, “Quit laughing at me because I can’t do what you take for granted! Quit expecting me to [fill in the blank]. You don’t understand how hard it is for me because it is easy for you.” Times when I want something that says, don’t expect too much because I’m not as able-bodied as I seem. But that doesn’t last long.

Pic of the day - White Pride

Somewhere in between both of these comes the idea of passing. Passing as white. Passing as straight. Passing as middle class. Passing as healthy. Passing as sane. Passing as “normal.” Those who, visible or invisible, actively seek and cultivate a specific image or identity to project, often less by choice and more by necessity, a need to have a job, health insurance, a safe neighborhood. As long as I can “fake it” as able-bodied, you can bet I will be doing so. Partly for the practical reasons just mentioned, and partly because trying to seem able-bodied makes me actually stronger and extends my endurance in real life.

There is more to the idea of visibility and invisibility in health care. With rare diseases, part of the challenge to diagnosis is the very fact that they are rare. The assumption for most diagnosticians is that the rare condition is unlikely, and that the more likely options should be ruled out first. This is strategically sound and wise, but results often in long drawn out diagnostic processes. THe idea that the diagnosis is a rare disease is almost an invisible idea. Then, after receiving the diagnosis, comes the feeling of being invisible in a health care system designed to support the more common diagnoses. Feeling invisible in the sense of seeing no one around who is “like me.” Feeling invisible because you can’t find someone else who’s life is “like mine.”

Invisible because you can’t find a way to make your life visible. Invisible because the challenges you live with aren’t taken seriously. Invisible in that people look at you and see someone different from who you believe yourself to be. Invisible in that the condition or disability is invisible, and some how you got carried along with it, fading away. Invisible in the sense that your fatigue, or pain, or lack of mobility, or other challenges keep you out of mainstream life; that you can’t afford to go to movies or shows because your meds cost so much; that the largest part of your life is hidden and unseen.

There are times when you want the privacy so you don’t need to explain. And there are times when you wish it was all visible already so you wouldn’t need to explain. Visible, invisible; private, transparent.

“In our case, privacy meant that Maureen’s health information was not visible (or transparent) to the team of oncologists and pathologists at M.D. Anderson as quickly as we needed it to be, so that a diagnosis could be rendered swiftly and a course of treatment commenced immediately. Privacy, without necessary (and user-controlled) transparency, can indeed be the difference between life and death.”
Gary L. Thompson. “A View from the CLOUD: Are Privacy and Transparency on a Collision Course or Two Sides of the Same Coin?” http://www.hl7standards.com/blog/2011/07/27/a-view-from-the-cloud-are-privacy-and-transparency-on-a-collision-course-or-two-sides-of-the-same-coin/

Gary points out some very important issues here. Privacy, unwished for, can be deadly. Transparency, unwished for, can also be deadly, such as for victims of bullying or domestic violence. The invisibility of “rare diseases” in the diagnostic process can slow things down to a dangerous pace. Not knowing what is wrong can be dangerous, can result in ‘treatments’ that make things worse, or at best delay getting better. Not being able to get a diagnosis is isolating and frightening. Looking “normal” when you aren’t can be isolating. Being treated as “invisible” when you aren’t is isolating. Having a rare disease, any rare disease, is isolating. Transparency can do away with parts of the isolation, but then can also open the door to other possible risks.

Until the world becomes a perfect place, we will need both privacy and transparency, we will need the opportunity to choose between them, to shift between visibility and invisibility.

Rare Disease Day 2014

More about Rare Disease Day

Global Genes: http://globalgenes.org/world-rare-disease-day/
NIH: Rare Diseases: http://rarediseases.info.nih.gov/news-and-events/pages/28/rare-disease-day
Rare Disease Day US: http://rarediseaseday.us
Rare Disease Day US: Map: http://rarediseaseday.us/events/rare-disease-day-2014-countdown/
NORD (National Organization of Rare Diseases): https://www.rarediseases.org/about/partnerships/rare-disease-day

Rare Disease Innovation Driven By and Driving Open Science


When you hear the word “rare”, don’t you instinctively think of something precious, something unique and valuable, treasured and guarded and preserved with great care and tenderness? I do. The image above is of a medical magical amulet from the famed collection by Dr. Campbell Bonner.

An amulet is, “any object which by its contact or close proximity to the person who owns it, or to any possession of his, exerts power for his good, either by keeping evil from him and his property or by endowing him with positive advantages.” (According to Dr. Bonner’s definition, Bonner, C. Studies in Magical Amulets. Ann Arbor: University of Michigan Press, 1950. p. 2.)

Magical Amulets: http://www.lib.umich.edu/magical-amulets

I was working on the next installment of the Bubble/Blur series, but today is Rare Disease Day. A pretty special day, and pretty near and dear to my heart. Any time I wasn’t in meetings today, I was probably watching the inaugural NIH Rare Disease Day webcast, which was held partly in honor of the 20th anniversary of the existence of the NIH Office of Rare Disease Research. The event went on all day, and continues tomorrow.

Rare Disease Day @ NIH: https://events-support.com/events/Rare_Disease_Day/page/242

I didn’t get to see as much as I wanted. Not to diminish the other wonderful presentations that excited me so much throughout the day, but the most powerful part was at the end of the day, with the screening of the documentary “Here. Us. Now.”

Leading up to the screening, it was obvious from the atmosphere (which conveyed to me a sense of approaching awe) that the event planners knew we were about to see something very, very special.

Here. Us. Now. http://globalgenes.org/here-us-now/ Trailer: https://www.youtube.com/watch?v=LPK6pGFHAa0

“The Hempels’ story reveals the grim truth that rare disease is all too commonplace. Despite unprecedented investment in medical research and development, there are thousands of known rare diseases and disorders without treatments and cures. It’s a broken system moving at a tedious pace, and it leaves heart-rending personal stories in its wake.”

Both parents were experts in business with little knowledge of healthcare before their daughters were diagnosed with a rare fatal genetic disease (Niemann Pick Type C). Guess what? They are now the experts. They used their expertise in business to create what they describe as essentially a new business, a start up. It sounds almost like a “House that Jack Built” kind of story. The business focuses explicitly on doing the needed research, to share the results, to foster the necessary innovation, to drive the discoveries, to save their daughters’ lives.

What I was hearing as I listened and watched the movie were arguments in favor of a wholesale revisioning of the methods and practice and institutions of science, healthcare, publishing, and the governmental oversight agencies responsible for all of these. I want very much to have a chance to see the entire movie. I want to watch it closely. I want the DVD. I want to show it to people. I want to have a viewing here at the University of Michigan. I haven’t seen the entire movie, and I already want it to be required viewing for a wide range of people.

So you can better understand why I feel this way, I want to share just a few snippets of the ideas that most captured my attention in the tweets I sent while watching it, listening to them tell the story of the many barriers they encountered, and the solutions they created with determination, focused intent, planning, love, effort, and lots and lots of money; and the ways they used what they learn to advance the research in this area around the world, strategies they’ve share with other parents and families who share in these explorations and trials.

This is the story of one family. But this is also a story that encompasses virtually every major trend currently emerging in science and healthcare — the need for open access and open science, the empowered patient movement, personalized medicine, the difficult dynamic between transparency and privacy in healthcare and research, the shifting dynamic of how scholarship is defined and how knowledge is shared and how communities are built. These two parents have been transformed by their experiences with rare disease, have seized on to anything and everything that will let them make the difference they are trying to make. As a result, they are not just changing life for their own family, but for countless others. As they tell their story, they continue to change attitudes toward what is best practice in science research and healthcare innovation.

Another friend of mine said it rather well. This is not just what this one family is doing, although the story of the Hempel Family really is a lodestone for the entire conversation, but it is bigger than them. That is because all around the globe, every day, there are other patients and families doing the same kinds of things. Maybe not at the same scale or with the same scope, but trying to change things for themselves and others with their disease. Doing their own research and sharing it. Educating their doctors, who are NOT the experts in these rare conditions. Educating other patients on how to educate their healthcare team. And on and on. And what happens?

For the Hempels, they found not a cure, but a treatment. Something that helps. They were able to find friends and allies who helped them push it through the system, and get FDA approval to use this to help improve the quality of life for their children, and for others with the same condition. It really IS like magic. For the rest of us?