When Rare Might Not Be So Rare: An Ehlers-Danlos Warrior’s Story, to Spread Awareness on Rare Disease Day

Sillhouette of person in front of amber background doing standing splits with ground leg (left leg) hyperextended.

Those who know us may know us as being extra bendy. Party tricks and all.

We’re not just extra bendy, though.

Hypermobile Ehlers-Danlos Syndrome (hEDS; or EDS type III) is a rare, genetic connective tissue disorder and 1 of the 13 types of Ehlers-Danlos Syndrome (EDS), which — being a connective tissue disorder — can cause us zebras (as we and others with rare diseases are also known) to have issues in all different parts of our bodies and organs at any points in our lives. It’s much more than “just” our joints or “just” being bendy.

But often, even doctors and other healthcare professionals aren’t aware of this vital point and a quick Google search doesn’t often do it justice. There’s also a lot of misinformation out there, including among medical professionals, unfortunately, which can be detrimental to us getting diagnosed and, therefore, the appropriate care.

Person sitting sideways and draping hair over their face, completely covering it from view and facing down, holding their head in their hand (hand on the top of their head), as if in pain. Subject is wearing a light gray, fuzzy sweater and a soft, amber, afternoon hue of light dramatically illuminates the figure and top half of the frame.
Person sitting sideways and draping hair over their face, completely covering it from view and facing down, holding their head in their hand (hand on the top of their head), as if in pain. Subject is wearing a light gray, fuzzy sweater and a soft, amber, afternoon hue of light dramatically illuminates the figure and top half of the frame.

hEDS, is the more common type, but it’s also often incorrectly dismissed or labeled as benign and the less severe of the types, which may be at least partly because it’s not one of the types that generally affects life expectancy, and it often includes a lot of vague and invisible symptoms. Some of us also don’t have some of the hallmark characteristics, like very stretchy skin. It’s on a spectrum, and some are affected in vastly different ways than others, but either way, these types of descriptions and labels often do not make for an accurate representation of what hEDS is and can be.

And while, in some ways and some situations, there may be milder cases, overall, people with hEDS (as well as those with hypermobility spectrum disorder [HSD], which is the diagnosis you may get if you are borderline but don’t meet the strict clinical criteria for hEDS, too) can have their quality of life greatly impacted by their condition in countless ways that can change and fluctuate on a daily basis and throughout their lives.

Both HSD and the hypermobility type of EDS can also be characteristic of experiencing very high levels of chronic pain in addition to experiencing physical trauma to our joints (i.e., rapidly wearing out and dislocating or partially dislocating our joints sometimes, often on a regular basis, creating more complications and pain with repeated injury) because our ligaments are typically too lax and can’t properly keep our joints in place (along with various other systemic issues).

White Pice of paper with penciled illustration of spine on top of brown clip board, surrounded by other penciled drawings of the profile of a skull, a hand, and a foot.
White Pice of paper with penciled illustration of spine on top of brown clip board, surrounded by other penciled drawings of the profile of a skull, a hand, and a foot.

For some of us, like me, hEDS can also come with instability and hypermobility of the spine, which can cause all sorts of issues, including daily, debilitating headaches and other pain, as well as disc degeneration (very prematurely in life), all of which can be accompanied by unrelenting and painful muscle spasms because our muscles end up having to do the work of desperately and constantly trying to stabilize our unstable joints.

In some cases, also like mine, this can result in rapidly progressing, severe spinal stenosis that (if left untreated) can ultimately result in permanent loss of sensation and function at that point down and, without surgical intervention, can sometimes lead to becoming paralyzed (or worse) — the road I was rather quickly headed down before I had surgery.

This is just one example, however, and barely scratches the surface of all the possibilities and ways in which EDS presents in different people (or even in one person), though.

Medical human body part models sitting on a table (like those seen in a doctor’s office), including skull with nerves and other pathways highlighted, and some other models on the table bhind it that cannot be made out, in what looks like a well-lit medical institution or museum.
Medical human body part models sitting on a table (like those seen in a doctor’s office), including skull with nerves and other pathways highlighted, and some other models on the table bhind it that cannot be made out, in what looks like a well-lit medical institution or museum.

I’m, really, talking mostly about joints still, too, and researchers probably don’t even know all the ways EDS can affect us, as they’re still trying to figure a lot of this out themselves. From vascular, dermatological, and gastrointestinal issues to nervous system and autonomic dysfunction (think dizziness, lightheadedness, nausea, and fatigue, among other things), allergies and sensitivities, and more.

Some of us even metabolize medications and other things differently and inconsistently. Like many others, I never before understood why I always needed more anesthesia in order for it to work, but now I do.

The Possibilities Are Endless . . .

. . . because connective tissue is just about everywhere.

And as the saying goes for our types, “If you can’t connect the issues, think connective tissues.”

Picture of two hands massaging someone’s back
Picture of two hands massaging someone’s back

There can also be real risks to treating patients like us, well beyond what I’ve mentioned and especially when performing surgery and other procedures and treatments on us, without knowing what we have and what to do differently to properly handle and care for us.

But even among doctors and healthcare professionals, there’s just clearly not enough education or awareness about the disorder (as doctors only learn about it for maybe 5 min in their curriculum), and there are also a lot of misconceptions leading to misunderstandings of the information that does exist out there about the disorder and the many nuances of the condition that can manifest so differently in different people. And like so many other chronic illnesses and rare diseases, there’s also so much we just still don’t know.

As a result, there aren’t really guidelines or widely agreed upon protocols on a lot of these things yet, so we, as patients and loved ones, have to work hard to find the providers who are staying up-to-date on the current research on this and intimately understand what we’re made of, everything they’re up against, and all the comorbidities and complications this opens us up to. But they can be surprisingly hard to find, even nonexistent depending on the specialty (even in a major city like Chicago).

And for neurosurgeons, for me, this means traveling halfway across the country to get real answers on certain things and, also, probably if my spine needs surgical intervention again in the future.

I do, of course, have to be thankful for the medical professionals for regaining most of the function and sensation from my neck down, but for almost 4 years now, I’ve trudged through every, single day with new pain and daily headaches, tinnitus, orthostatic hypotension, fatigue, and all kinds of other symptoms following spine surgery, trying desperately to figure out what’s wrong with me now (only to find that the root cause may be the same as it ever was, just striking in new and sometimes interesting ways and often in the form of equally rare comorbidities).

But it was against all odds that I’ve been wading through all kinds of wildly different opinions and even several doctors and healthcare professionals minimizing my symptoms and telling me there’s nothing really wrong at all or not wrong enough to warrant care over the past few years.

Colorful abstract painting with the words “We hurt” is big white and black letters.
Colorful abstract painting with the words “We hurt” is big white and black letters.

It’s hard to imagine, after going through this, how anybody gets care for any invisible illnesses, especially things like this that don’t typically show up on tests. That’s often the problem for many of us with complex, as well as rare or rarely diagnosed, chronic illnesses/disorders and invisible illnesses, too.

It’s really no wonder to me (and lots of others) that this disorder that’s considered to be rare is turning out to most likely not be so rare, but, rather, underdiagnosed.

It’s Not Easy Being A Zebra

We call ourselves zebras because doctors are taught in medical school that when you hear hoofbeats, think horses, not zebras, because chances are it’s a horse. After all, zebras are incredibly rare (by comparison), so the likelihood of a patient with a rare illness such as this one walking into your office? Probably even rarer.

Black and white picture of a zebra looking straight into the camera in a grassy field.
Black and white picture of a zebra looking straight into the camera in a grassy field.

And in theory, this can be a useful reminder, but in practice, I think medical doctors are all too often falling into the trap of essentially assuming it’s never going to be a zebra walking through their doors (and, similarly, by Leonard’s law of physical findings, “it’s obvious or it’s not there”). So, by consequence, the way the curriculum has been designed neglects to spend much time and energy teaching doctors about these things and what to look out for.

The zebra also symbolizes how different each of our conditions is (even within a family) because no two zebras are the same.

Two zebras with noticably differnet stripe patterns looking straight at the camera, one on each side of the frame.
Two zebras with noticably differnet stripe patterns looking straight at the camera, one on each side of the frame.

For decades before my recent diagnosis of hEDS — throughout my whole 35-year life so far — to doctors along the way, I was often bringing up the other, perhaps more common, issues I’d accumulated (most of them, at least), but it took some real catastrophic events more recently for anyone to believe I wasn’t just malingering or a hypochondriac or drug-seeking or something, and even then, rapidly progressing, severe spinal stenosis at an unusually young age still wasn’t enough to convince many of them otherwise it seemed.

Four years after said catastrophic event, I’m only now, finally, getting this diagnosis but only because I fought so hard to get here, and only because I have that diagnosis now do I seem to be getting the time of day sometimes and am gaining the ability to get into some of the right (also very rare) specialists to get care and consideration for other comorbidities that could provide even more important answers for me (and future research).

No one would consider these comorbidities before my diagnosis, though, because they’re also rare conditions, some of which would be extremely rare unless you’ve been diagnosed with this other rare disorder (EDS) with which these things are often associated. And even still, some will say those other things are so rare they’re still too unlikely to consider. See the catch-22 there?

Even with all these problems and symptoms now, it’s been extremely tough to convince a lot of doctors there’s anything going on here, though, and even tougher still to convince some that my case warrants seeing the only types of specialists I’m coming to find can properly help me manage my conditions and have wholeheartedly acknowledged that there is definitely something going on here and faulty connective tissue has a lot to do with it.

Picture of medical professionals analyzing imaging, with one woman in a white coat pointing to something in the image and showing the others, with a smile on her face and all the other’s listening or learning from her.
Picture of medical professionals analyzing imaging, with one woman in a white coat pointing to something in the image and showing the others, with a smile on her face and all the other’s listening or learning from her.

And thank goodness for them. Because what I’ve also been learning, like many others before me, pain and other things are often not considered a real problem out there in the “real” world and the medical community, unfortunately, as unhealthy and uncomfortable this is to live with. You must be bleeding out of your eyes, apparently, and there’s lots of gaslighting and minimizing of symptoms happening to patients like me in lots of doctors’ offices, unfortunately, adding to the trauma we already experience daily.

But that’s the road we take, for probably all of us EDSers — to some degree and at some point or another — most likely at all different points in the journey, actually. I think it never really ends.

Our Unique Struggles Are Real

All of this has taught me a lot of things over the past few years, but especially, considering the times we’re in too, most of all it has taught me that you never — never — know what someone else is going through. Even if you think you do.

And they may have no idea what you’re going through either.

Hey, you may not even know what you, yourself, are going through. And it may take years — decades — for anyone else to help you figure it out. (Plus, it can be very difficult to explain these things to others when you can’t find any medical professionals who can explain to you what’s going on in the first place.)

So, go easy on each other. And always remember to take some time to care for yourself and others and put your health and well-being first. (As hard as that always will be, even for me, even after all this, and especially in these busy times in which we live.)

A group of zebras standing together in a field
A group of zebras standing together in a field

And always — always — stand up for yourself, against all odds (even when no one else will), and don’t stop until you find the right people.

Because sometimes rare might not be so rare, but you may be the only person in your corner who really knows it.

Three white signs with black lettering on a chain-link fence in a tropical setting that read (1) DON’T GIVE UP, (2) YOU ARE NOT ALONE, and (3) YOU MATTER.
Three white signs with black lettering on a chain-link fence in a tropical setting that read (1) DON’T GIVE UP, (2) YOU ARE NOT ALONE, and (3) YOU MATTER.

Amy is a hEDS warrior and writer & editor working primarily in health & wellness, science & medicine, career development, marketing, and cooking & gardening

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