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Posted by on Aug 31, 2016 in CRPS / RSD | 0 comments

Unicorns & Zebras (31.08.2016)

Unicorns & Zebras (31.08.2016)

When I started searching for information about rare diseases, and connecting with others facing the same types of issues that I was, many people seemed to be referring to themselves ‘zebras’. This struck me as being a perfect word for us; a bunch of very diverse zebras, in a healthcare system set up for horses.

Why do so many of us with – very different – rare disease self-identify as zebras? We’ve co-opted a term used in medicine: “During my training at Hennepin County Medical Center (HCMC) in Minneapolis, MN, my mentor would use the following teaching pearl during rounds: ‘When you hear hoofbeats, think of horses not zebras!’… What did my mentor, the Sage of HCMC, mean by this? … Zebra is a medical slang term for a surprising diagnosis”(1).

Physicians are trained to look for ‘horse’ illnesses when diagnosing patients, because rare diseases are, well, rare. What this often means is that a person with a rare disease is faced with – in addition to the disease itself! – disbelief or doubt as to their symptoms. The burden of proving that there’s something medically ‘wrong’ seems to fall on the patient, who usually doesn’t have the benefit of medical training.

It can be a struggle to even find a physician willing to evaluate some – or all – of these symptoms. I’m writing from experience here, as that’s exactly what happened to me; for almost 3 months. And I’m considered lucky that my struggle to be… believed… only lasted 3 months. Many with rare diseases go years without a diagnosis, so without treatment or medical support.

Sadly, even within my field – bioethics, or medical ethics – some experts have taken a stance that’s not helpful to zebras. A good example of this is a commentary piece, in a 2008 medical journal, written by Ezekiel J. Emanuel, MD, PhD (Chair of the Department of Bioethics, at the National Institutes of Health; the NIH) and Victor R. Fuchs, MA, PhD (Emeritus Professor of Economics and of Health Research and Policy, at Stanford University):

“Medical school education and postgraduate training emphasize thoroughness. When evaluating a patient, students, interns, and residents are trained to identify and praised for and graded on enumerating all possible diagnoses and tests that would confirm or exclude them. The thought is that the more thorough the evaluation, the more intelligent the student or house officer. Trainees who ignore the improbable “zebra” diagnoses are not deemed insightful. In medical training, meticulousness, not effectiveness, is rewarded”(2). In case it’s not obvious here, they’re arguing against this approach, and using the term ‘zebra diagnoses’ somewhat disparagingly.

We rare disease patients use the term zebra to refer to ourselves for many reasons. Some of them are because; we’re often faced with situations in which we know more about our disease than our non-specialist physicians (who’re used to treating horses, not zebras); there are very few people who understand what it means to live with our specific conditions; and we’re often told that there’s no solid evidence, information, statistics, or prognosis (i.e. likely outcome, or disease progression) available for our disease – because it’s too rare to have been studied.

So, what’s a unicorn? In keeping with the hoofed-animal analogy; if a zebra is someone with a rare disease, a unicorn is someone who has more than one rare disease. They’re the rarest of the rare, and many people – sadly this includes physicians – don’t seem to believe that they exist. Because ‘unicorns’ are even rarer, in healthcare systems set up to deal with horses, they often face additional challenges and burdens as patients.

To complicate matters even more, many rare diseases are ‘invisible diseases’; the person looks perfectly fine, but has a life-threating and/or debilitating disease. They’re considered by the healthcare system to be disabled due to disease, but don’t look the part.

One of the first rare disease patients with whom I connected (on Twitter) was a unicorn; her two rare diseases were Ehlers-Danlos Syndrome or EDS(3) and Postural Orthostatic Tachycardia Syndrome or POTS(4). The latter would cause her to very suddenly lose consciousness and collapse (i.e. faint). She’d often joke that this would always happen at the worst times, but it’s hard to imagine a good time to suddenly faint.

She also had a healthcare background(5), and wrote a lot of constructive criticism of healthcare systems; how they could be adapted to better suit people who were ill – the patients. She used humour – often biting sarcasm – to get her point across. I sent her a photo of one of my fridge magnets, which she loved: “Tact is for people who aren’t witty enough to be sarcastic”.

Sign - Tact is for people who aren't witty enough to be sarcastic

Photo: Sandra Woods

And she gave me some of the best advice I’ve gotten so far on how to deal with being a rare disease patient, adrift in a healthcare system (see the post “Advice from a unicorn”). Often she’d send a funny photo that perfectly summed up something that had just happened – or was about to happen – in my own patient journey.

By now, you may have noticed that I’m referring to her in the past tense. Her name was Jess, and she passed away on August 13, 2016, just a few months after we ‘met’ on Twitter. She was only 29 years old(6).

She touched so many lives, and tried so very hard to improve healthcare systems for patients, that she’s left a legacy of people – many (most?) within healthcare – who’re trying to improve patients’ experience in her memory. There’s a hashtag (#) on Twitter that’s living on in her memory, where people post stories of how they’re improving healthcare – or would like to.

I never got to meet Jess in person, but wanted to write a tribute to her here, because of the profound impact she had on me. She was a seriously ill patient, yet took the time – via direct messaging on Twitter – to provide support and guidance to me when I was a newly-diagnosed rare disease patient. When I felt completely adrift and lost.

Thank you, beautiful Unicorn, for the kindness that you shared with me, and with so many others. If I can someday help another person to get – or deal with – a rare disease diagnosis, it will be in large part because of you. You’ll be dearly missed.

~~~~~~~~~~

(1) Michael Aaronson, MD. Common things are common, except when the diagnosis is rare. KevinMd.com blog. 07 Jan 2011. Web: http://www.kevinmd.com/blog/2011/01/common-common-diagnosis-rare.html

(2) Emanuel EJ, Fuchs VR. The Perfect Storm of Overutilization. JAMA. 2008;299(23):2789–2791. 18 Jun 2008. doi:10.1001/jama.299.23.2789

https://jamanetwork.com/journals/jama/article-abstract/182076

(3) Genetics Home Reference. Ehlers-Danlos syndrome. National Library of Medicine (NLM), of the National Institutes of Health (NIH), at the U.S. Department of Health and Human Services (HHS). Undated. Web: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

(4) Genetic and Rare Diseases Information Center (GARD). Postural orthostatic tachycardia syndrome. National Center for Advancing Translational Sciences (NCATS), funded by the National Human Genome Research Institute (NHGRI) and the National Institutes of Health (NIH). Undated. Web: https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome

(5) Eytan, Ted. Remembering Jess Jacobs. 14 Aug 2016. Web:

https://www.tedeytan.com/2016/08/14/20174

(6) Combs, Veronica. Friends, colleagues share their memories of Jess Jacobs. MedCityNews (Breaking Media, Inc.). 18 Oct 2016. Web:

http://medcitynews.com/2016/10/memories-jess-jacobs/?trendmd-shared=1

 

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