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