It’s March 20th, 2017, and the new extremely complex and greatly updated Ehlers-Danlos syndromes nosology and diagnostic criteria haven’t even been out for a week, and yet it feels like a month has already passed, my brain is so blown by so much new information and the very emotional response that has erupted since! Lordy!
Many people with very rare types are now wondering if they have the right rare type, but the current material for learning about it is so highly technical and complex, it takes a very geeky brain to parse any of it.
And I’m including our doctors, who are by definition smart to begin with: medical school selects for same. Most of us (and them) are just not so steeply versed in modern genetics much less the finer points of connective tissue disorders, much less these new, extremely similar forms of the Ehlers-Danlos syndromes, phew!
Even if they are willing and interested to learn some or even all of this new material, they just don’t have the time in many cases as they are overburdened (at least in the US) with our bloated insurance system in most cases, and struggling to keep up with all the other new rare diseases being found elsewhere. Sorry but we’re just a subset of a growing pool guys.
And we aren’t the only rare disease community after all! I’m starting to know how our democratic government representatives must feel – with millions of people lobbying for their particular individual self-interests, and some in extremely persistent fashion. (As well they should.)
But especially many of us diagnosed with the most common form of the Ehlers-Danlos syndromes, the hypermobility type, are feeling quite up in arms as we appear to be “losing” our diagnosis thanks to the newly tightened criteria for same. Yet we are being given a sort of “catch-all” bin called Hypermobility Spectrum Disorders to fall into so that we at least can be diagnosed with something valid now, instead of just sent away as “just depressed”, if anything at all. Or worse: a harmful misdiagnosis of Munchausen’s or hypochondria or conversion disorder as some have painfully experienced. (Ouch!)
This has been quite upsetting for some of us who very understandably feel like we’re losing our very very hard fought diagnosis, even though we’re technically not. Myself included – I no longer “pass” the newly tightened Beighton score in Criteria 1 here even after answering the 5 pt sub-questionnaire despite being as bendy as Sofi Dossi as a child and suffering from myriad issues all my life. (I’m now a stiff 2 at best, more likely a 0 in the Beighton score now at 50.01 yo, so no dice as far as I can see.)
But technically our diagnosis is just being changed FROM hypermobile EDS TO the new category of HSD: Hypermobility Spectrum Disorders in cases like mine. (Emphasis on spectrum! (And mine.))
I think if it didn’t take us well over ten years on average to get diagnosed to begin with (25 in my case), we might not be so upset. Especially since, as my long time readers well know, I’m deeply convinced that what we now call the Hypermobility Spectrum Disorders, or what passes for them on the “milder” and less bendy side are not at all rare, just rarelydiagnosed as I used to say about hEDS befrore.
I honestly think most are currently getting diagnosed with fibromyalgia, but that is my unprofessional opinion only of course. Though I know of one doctor who agrees with me now and increasing numbers of patients are starting to make the connection with a CTD and comorbid MCAD of some kind (usually MCAS).
Further, I happen to know of some hEDS (formerly EDS III) patients, including a leading rheumatologist in Chile himself who have told me they not only aren’t bendy now, but they never were. But they suffer from all the same systemic issues that arise with weak connective tissues throughout the body including joint instability as I am now. (I just “break” now, I don’t bend almost at all anymore and oh is it painful! I long for the bendy days of my youth, heh.) So they may not even get picked up by this new category even at all!
So it would seem there is some tweaking and adjusting to do, which The Ehlers-Danlos Society are quite willingly undertaking. Furthermore, we will be revisiting the whole works in just TWO short years from now, not the twenty painful ones we just took to get even here!
And… as I’ve been trying to re-assure my followers as I have volunteered to dive into the HSD waters of my own accord, my condition is still very real, as is my suffering and ALL of my pain. (And how, ow!) I’m just not bendy anymore and unsure I will be at all soon.
So in truth, technically, nothing should have changed for me or anyone already diagnosed with hEDS (formerly EDS-HT, aka HMS and JHS and EDS III elsewhere and in the past). We are all just contemplating and seeing where we do fall according to the new classification scheme and criteria. Or at least I am, speaking for myself of course.
Leading me to urge everyone, diagnosed or not, suspecting or otherwise, to validate yourself.
Heck, even before this criteria change, as too many know (and some aren’t even aware yet), it was extremely hard to get doctors to recognize any but the grossest signs of the rarest types of the Ehlers-Danlos syndromes. Now they have to double check they have the right one, there’s a flock of new, extremely similar types in a plot to further confuse. And still rule out any other similar HCTDs.
This will continue to be the case, despite all of our best efforts to educate as many doctors as possible all over the world. Someone somewhere will continue to be dismissed, invalidated and disbelieved for any number of unfortunate reasons, sometime even AFTER being diagnosed, most of which we can’t control.
And some patients even with the grosser signs of a rare type will still struggle to figure out which one they have until molecular testing catches up, which I think will sooner than later. I’m dearly hoping so for all our sakes!
I am friends with the mother of a lucky young boy who has yet to receive a confirmed diagnosis after over 7 long painful and expensive years of trying, despite traveling to see some of the best specialists in the world for almost every heritable disorder of connective tissue, and being tested six ways to Sunday. He was so afflicted, that Make-a-Wish even granted him his dying wish 5 years ago!
And even he can’t get diagnosed properly yet, and not for lack of effort! So we’re not alone in this problem, even on the opposite “bendy” end of the hypermobile spectrum.
Thankfully doctors DO recognize he has some form of serious CTD, and wisely do suspect a likely rare form of Ehlers-Danlos syndrome and treat him accordingly, but not one has been able to finger a single known pathologic genetic defect in him to explain all of his troubles. They have diagnosed a growing handful of major comorbidities like epilepsy and a rare form of dysautonomia finally so he’s getting supportive treatment and a service dog thankfully. I keep telling his mom he has “Stryder’s Syndrome”; i.e, he may be the first or only one of his kind!
So just as I did for the last 30 years while being written off as “just depressed” and “just a woman” (ha), you really need to learn to validate yourself.No matter what anyone else says or thinks about you, ever. In all ways.
Heck, my dear black and LGBTQ friends and family have dealt with this their whole lives – experiencing invalidation, disrespect and dismissal at almost every turn by very closed-minded and often bigoted people all their lives. There is just some unfortunate trait that runs in humanity causing a small but very stubborn percentage of us to be extremely closed-minded about some things, and in some rare cases, about everything. It’s just really unfortunate when they are the very doctors we’ve been trained to turn to for help, and nay, often pay thousands of dollars for the privilege of seeing.
But in the end, even some diagnosed and clearly afflicted patients STILL get dismissed and invalidated, sad to say, just not as often of course. And sometimes in different ways. Again, it’s just human nature in some unfortunately to do this. I’m guessing it is anxiety-based, or just plain narcissism as was my dad’s case. If they don’t mind, it doesn’t matter, right? They can dish it, but they sure can’t take it, sigh.
But we can never change someone else’s mind. Only our own. In truth, we are lucky if we persuade anyone else of any of our views it turns out – it is natural human instinct (usually) to cling to the familiar and resist change for most of us. (Not all. Never all.)
So do yourself a favor, and give yourself – and everyone around you, and your hard-working doctors a break for a minute, and validate yourself.
That is, know deep inside that even if no one else has affirmed your experience, said they believe you or given you the help you no doubt need and deserve – it will be forthcoming in due time okay? “Believe it and you will see it” to quote the late great Dr. Wayne Dyer.
Nothing worth doing is ever easy. And good things really do come to those who wait and persist – I promise. I knew deep down all those years that there was something truly wrong with me even if no one truly or fully believed me, we just didn’t know what. And instead of wasting thousands of dollars and probably hundreds of hours trying to beat the medical system at the time, I just ignored my milder issues, triaged the worst as they arose and got on with life as best I could until it radically changed in 2012, leading to my diagnosis finally after all those long painful years.
And boy am I glad I did. Not only did I get to participate in the working world and enjoy several incredible hobbies including gardening, photography and folk dancing, I traveled to some incredible places (albeit in pain, like where the above photo was taken in Utah), and lived a pretty darn full life until I suddenly couldn’t. Or at least not nearly as easily anyway.
Not that my life is over now, it’s just different, and how. (Ow!) It’s a lot harder to enjoy all of those activities now, though I’m ever so slowly returning to a couple in small amounts. Not to mention have blossomed into a writer as you’ve seen here. And have settled into my new life as a spokeswoman for a so-called rare connective tissue disease that no one can quite agree on fully.
I’m still me, Jandroid, the creative android. I still matter. As do you, diagnosed or not. I believe you, even if no one else does, okay? And The Ehlers-Danlos Society really does too. And if you keep the faith, and believe in yourself, ultimately others will too, I promise. I just fear that our doctors often fall into the more stubborn than not category, so this gets to be a little harder than some other reasoned arguments we make.