"Suffering the Slings and Arrows of Outrageous Fortune"

Today is Rare Disease Day – an opportunity to bring awareness to the many rare diseases that exist and Ehlers Danlos Syndrome is certainly on that list. Many of us who live with it, strongly suspect that it is more underdiagnosed than it is rare, but, nonetheless, EDS is considered a rare disease and awareness is desperately needed.

The simple truth is that no one really knows how common EDS actually is and estimates vary widely, depending on which statistics you believe. The Hypermobility and Classic Types are  the most common, occurring in something like 1 in 5,000-10,000 and the Vascular Type is thought to occur in something like 1 in 100,000 to 400,000. The Kyphoscoliosis, Dermotospraxis, and Arthochalasis are extremely rare, occurring in a small number of cases world wide.

When an individual is diagnosed with a rare life changing condition, like EDS, one naturally expects to receive much needed help and proper care from the medical community. Sadly, often after years of missed diagnosis, EDSers often get blank looks when they mention Ehlers Danlos Syndrome to any and all medical professionals, typically followed up with a request to ‘spell that for me’. Watching your doctor google your condition in your presence does not exactly inspire confidence. On the other hand, that is actually better than the doctor who doesn’t have a clue but won’t be bothered to look it up for his own edification in order to provide you decent care. And such is the difficulty of living with a rare condition like EDS.

It is very telling that one of my family’s best medical experiences was seeing the typical blank look upon mentioning EDS upon arriving at the ER and having the nurse return to our room a short time later to learn about it – he asked me to spell it as he carefully copied it down in a notebook, he asked some questions and took some notes, said he would look it up and thanked me for educating him. While he deserved a gold star for caring enough to be educated, the lack of knowledge and awareness of EDS makes living with it extremely challenging. No patient wants to know more about their condition than their doctor but that is exactly the situation we find ourselves in.

And if you think the blank, deer-in-headlight looks are annoying, believe me, the disbelieving, belittling looks are infuriating. There are doctors who apparently don’t quite grasp that ‘rare’ is not the same thing as impossible. Too many doctors will say things like, ‘EDS is really rare, so I really don’t think you could have it’, as if it is somehow impossible to have a rare disease because it is rare. Another favorite: ‘You are too young and pretty to have such a rare thing’. Comments like that make you really wonder about the logic capabilities of said doctor.

All of this doesn’t even begin to take into account the other ‘rare’ conditions that travel hand in hand with EDS: Chiari, Cranial Instability/Settling, Tethered Cord, Externally Communicated Hydrocephalus, POTS, Reynauds, RSD/CRPS, Mast Cell Disease to name a few. So, for many EDSers, it is rare upon rare upon rare, when one rare condition would be more than enough!

And that brings us around to the idea of Zebras. You cannot hang out in the EDS world for long without noticing the plethora of zebra usernames, avatars, images, and references.

In the medical world, a Zebra is a person with a rare or surprising medical condition – so EDSers can rightfully refer to themselves as Zebras and many claim that title with pride. The name comes from an aphorism taught in medical school: ‘When you hear hoofbeats behind you, don’t expect to see a zebra’  While it is true that horses are more common than zebras, zebras actually do exist. Unfortunately, some doctors can be in the same room as a Zebra and only see a horse. Now, there is a point to the ‘don’t expect to see a zebra’ concept… medical students are studying all kinds of exotic conditions and tend to go for the most interesting, striking possible diagnosis, rather than the boring, common one. But, once through that phase, doctors actually need to consider those rare explanations when faced with a patient whose symptoms cannot be explained away. Another phrase that is perhaps more illuminating, if not blunt, is Hickum’s Dictum: Patients can have as many diseases as they damn well please.

Life as a medical zebra is challenging and often frustrating, but one consolation is that each generation living with a rare condition like EDS makes the journey a little easier for the next generation. Better awareness and education leads to earlier diagnoses and improved ability to treat EDS and the conditions that accompany it. Progress is painfully slow and chiefly remains in the hands of the patients and the few doctors who are really interested learning how to care for Zebras – but there is progress and that is something to be happy about. All of us living with EDS have a responsibility to use whatever means and any platform available to us to spread awareness so our children have the best prognosis possible.

Life as a medical zebra means:

  • becoming an expert on your condition, even when it offends the doctors
  • educating the good doctors and firing the bad ones
  • knowing your rights as a patient
  • being your own best advocate
  • seeking support and information from others with your condition and supporting them in return
  • sharing information and spreading awareness so the condition is better understood by the public
  • finding a way to deal with the bad doctors, bad attitudes and bad treatment with grace and dignity
  • living a full, happy life in spite of huge challenges and obstacles

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Comments on: "Rare Disease Day: Life as a Zebra" (7)

  1. […] Rare Disease Day: Life as a Zebra « Our Life with Ehlers Danlos Syndrome. […]

  2. Amy Ellis said:

    Why doesn’t the article explain the symptoms & conditions of EDS? How do you expect to educate people withous,actually educating them??

    • Thank you for your comment.

      In answer to your question, I would point out that this particular blog post is on the topic of living with a rare disease on the official Rare Disease Day. Obviously, there are more rare diseases than just EDS and so people around the world set aside the last day of February to bring attention to all rare diseases. This post was never intended to specifically educate about the particulars of EDS, but rather to highlight the need for a global focus on understanding rare diseases and spoke directly about the experiences of life as a zebra. Obviously, the topic of EDS and all that pertains to it could never be contained in a single post – that is why I have a whole blog devoted to it.

      Further, there are many articles and pages on my blog that do specifically discuss symptoms and related conditions. For example, if you look at the top, in the pages section, you will find ‘EDS 101’, ‘EDS Types’ and ‘What I wish I knew then’ which I believe might be helpful resources for understanding EDS. Beyond those pages, there are many, many posts that I have written about symptoms and our everyday experiences with EDS.

      Hopefully you find the information you are looking for, either here or elsewhere. If you are in need of specific links, let me know and I will share what I consider the best resources on the web.

      Thank you,
      Beth

  3. Holly said:

    Great site! As a doctor with EDS and related disorders (and unrelated ones) I am perhaps even more mystified and outraged at my own (and others with EDS) treatment by my profession. I go back and forth between thinking it’s stupidity versus a lack of giving a crap about patients when it’s probably both most of the time. Although we have no choice but to make the best of it, it gets harder to excuse poor behavior on the part of caregivers. Good for you for taking charge! Best

  4. Hi! I am a12 year old girl and have eds as well! It is tough living life as a zebra, but I enjoy it! I didn’t know I had it until recently , because I am hyperextended, double jointed in multiple places and extremely flexible until I was getting worried because in my dance class I bruise so easily and quickly, it takes a long time to heal, even just kneeling causes bruises. Also it is a challenge to drink, I forget because I don’t feel the need to, as well as eating. I’m origanilly from Europe and came to America when I was seven years old, I was super shy… But now I know English and in all the talented and gifted classes. Even being a zebra doesn’tstop mme!I have achieved many awards and ranks in class, I love it! Though my doctors don’t believe I have it and say all kinds of excuses so they don’t have to treat me me and my family will not give up!!! Its good to have other peoplewho understand as well, and not think that its probably just some little thing. It is goodto have a challenge in life, because if you don’t enjoy life even though there are bad parts, then why live? And one question when is the national rare disease day? Because I want to support the other zebras like me as well! Go Zebras!!!!

    • I am sorry it took me so long to reply. You sound like a brilliant young lady! Keep fighting for the answers you need and keep facing your challenges. Rare Disease Day is always the last day of February. You can go to rarediseaseday.org for more information.

  5. Amelia said:

    Amazing . Thanks for the brilliant article x

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