2017 editor’s note: I wrote this post in early 2016 a year before the new EDS nosology and diagnostic criteria were presented in March 2017, so some of the diagnostic information below is now outdated. E.g. the Brighton (with an “r” to be clear) Diagnostic Criteria are now obsolete, but the Beighton 9 pt scale remained as described here.
But I feel the main point of the post still stands and is relevant, so I’m keeping it with this caveat at the top to take it with a grain (or 30) of salt (preferably sea salt), and focus on the gist of it, vs getting hung up on the incorrect details. Thanks!
Original post as written in January 2016:
Sorry to disappoint you erotica fans, but this post is not going to be nearly as sexy as the recently viral romance novel whose title it is reminiscent of. But I hope having lured you in, it will keep your attention just the same, as this is a topic I’m feeling very strongly about.
I’m expecting to catch heat from multiple sides for this post, as I’ll likely rattle a few cages in the process, but c’est la vie. I can’t sit on this view any longer.
That is, the difficulty I find in both doctors and fellow (suspect and diagnosed) EDS patients alike to prematurely leap to conclusions, stick to them once drawn, and strive to classify the snot out of any and everything into tiny little black and white boxes that preclude having multiple conditions, factors or issues. (I call this sticky thinking, or “velcro brain” now. And yes, I’ve been guilty of same in the past too. I strongly suspect mild ADD and OCD to lend to this proclivity in us but that’s just my personal hunch yet obviously.)
E.g., upon learning you have Rheumatoid Arthritis or Lupus for instance, promptly ascribing any and all tissue pain and issues to that disease, and failing to see the comorbid hypermobile forest for the arthritic trees. (We find autoimmune diseases highly comorbid in the Ehlers-Danlos community.)
Or getting diagnosed with Fibromyalgia and refusing to see how every single symptom and manifestation of itfalls within the EDS circle of experience – every one. Including the familial inheritance pattern and your flying bird hands you wave at me in firm denial while your veins visibly pop and you squint your eyes at me through your myopic lenses while insisting you just have fibro! (The above are all signs of hypermobility in case that wasn’t clear.)
Yet you will refuse to consider the possibility you might have a so-called “rare” (!) genetic connective tissue disease even after I run a Brighton Critiera. [Editor’s note 2017: yes, I know the EDS are now all considered rare again per the new nosology and criteria, this was written before that came out in March 2017 when I still considered hEDS not so rare as per the Brighton Criteria. I now suspect most with fibro of likely having a form of the newly recognized in 2017 Hypermobility Spectrum Disorders, sort of “sub-clinical” EDS if you will per the new noslogy.]
No, you are special, you have the hard-won (being clinical, and thus purely subjective) diagnosis of the still poorly defined (and ever -expanding diagnosis of) fibromyalgia after way too many years of suffering and pain so you will not let go of it for love nor money! (Yes, I’ll still allow for a small handful to have “just fibro” but I would dearly love to know the cause that isn’t included in the Chronic Constellation when you find it.)
I can’t say that I blame you, any of you. After all, you’ve fought hard for the diagnosis you do have (or give, if you’re a doctor). And you’ve only been told about the grossest signs (extreme flexibility aka hypermobility, frank dislocations, and extremely stretchy skin or vessel ruptures) of the rarest typesof Ehlers-Danlos. And been told that it’s really rare. (The Hypermobile form is very likely not. Leading experts now cite as high as 2% of the general population may have it, since 2012.) And that you’ll be in a wheelchair if you do have it, like I was in 2012. (Hey, I’m back out for the record! Sure, I still limp, but I’m on foot again, watch out!)
But when I point out the less famous signs and run the Brighton Diagnostic Criteria backwards you still resist saying “everyone does that!” Of course you do: you’re surrounded by people just like yourself both in your biological family, and your circle of like-minded friends (birds of a feather). (We’re finding we’re highly attracted to each other both platonically and romantically, and most who are clinical enough to get diagnosed end up seeing it in both sides of their family.) And yes, this includes many doctors and nurses who I increasingly suspect also.
I feel strongly these myriad extra-articular (meaning non-joint-related) health factors and issues may well underlie why Hypermobile type Ehlers-Danlos Syndrome is so rarely diagnosed IMHO. I feel it expresses and falls much more on a continuum or “spectrum” if you will, much like the extremely commonly comorbid high functioning autism spectrum I increasingly find it also comes with.
In fact, I’m semi-convinced now that “high functioning” or mild autism (and the related sub-clinical alphabet soup (as I call it) which many also exhibit of variations of ADD/ADHD, OCD, SPD and more) is merely a symptom of the underlying altered neurology I think we’ll find common in HEDS patients one day. (They need to autopsy or image a flock of us to prove this still, but Temple Grandin‘s brain scans already hint at our saggy hind brains. Squished occipital lobes aka Chiari anyone?) I think whatever drives hypermobility also drives or lends to neuroplasticity and thus highly variable neurodiversity. (And don’t get me started on the DSM~!) But I digress.
The problem is our very binary, aka black and white, either-or, all or nothing mindsets: either you have a genetic SNP (defect) or you don’t. No other possibility. No partially having it, or having it mildly. Or having it plus anything else a la Hickam’s Dictum.
Just what would you say I had for the first 44 years of my life prior to my long-awaited diagnosis of Hypermobile EDS pray tell?? I most certainly did not “catch” HEDS at 45! It’s not contagious, like the Zika virus (thank God). I’ve had it since I was a zygote. But no one noticed the milder telltale signs as I was growing up:
I could go on. My point being, my condition worsened as I aged, until it finally suddenly became “clinical” enough to hit a doctor’s radar. My late father’s and paternal aunt’s health all snapped into focus suddenly once I finally suspected the condition. And then later my late mother’s health also snapped into focus (full dentures, varicose veins, phlebitis, thin skin that tore at a glance, easy bruising and bleeding, headaches, bad back, depression and anxiety, miscarriages and much more).
Apparently I pulled the short straw, and got a double dose from both sides of my family (mom AND dad). Yes, my older sister (only sibling) does also show plenty of signs (even passes the Brighton Diagnostic Criteria IMHO though she won’t let me run it on her yet). But I guarantee no un-savvy doctor would ever suspect my sister. Not based on the current literature and information!
And I wouldn’t blame them. She’s a highly functional full-time engineer after all who rarely to never misses a day of work, just like my late dad was. (And equally stubborn, TYVM.)
So not only can you have variability in the number of alleles (copies of your genes affected, e.g. single vs double), but you can have plenty of other environmental factors that may contribute to your level of severity. Especially if the RCCX Theory proves to lie behind the most common Hypermobile form, the level of stress in the home and your life will cause great variability in severity and age of onset. (And very nicely explains my level of severity along with a progesterone storm on top, thank you very much.) Oh yeah, progesterone makes you more lax by the way. Notice any trouble during your cycles ladies? Peri-menopause? Oh yeah. We get all the fun.
I was also the child of older parents (they were 40 when I hatched), who smoked and drank while conceiving and pregnant with me, and were starting to fight (live dysfunctional alcoholic lives) when I was growing up. (I’ve already mentioned my likely CPTSD in this post about Anxiety and EDS.) So I already had a couple strikes against my health when I was conceived as well as developing. (I suffered some benign neglect along the way my sister can vouch for.)
I also feel strongly a la Hickam’s Dictum that it’s not impossible to have multiple SNPs (genetic defects) or even a mashup of types or SNPs on multiple genes in the same patient that still lend to our issues, even if not all are directly disease causing. I.e, this is some (very B&W thinking) geneticists think you can only have one type that runs “true” in the family. Based on 4 plus years of observation of several thousands of patients and their families in my online support groups, I humbly beg to differ.
The level of variability and crossover of symptoms and types is almost unlimited. (And almost everyone has mild or more signs of Vascular type EDS and thus wonders if they have it. By all means rule it out by testing if you suspect it! We ruled out IV and VI in me based on family and personal medical history and presentation.)
Sure, a handful will appear to “run true” and be easily identified with a familial Mendelian inheritance pattern (usually autosomal dominant), but not all. I’m also pretty sure these are the exceptions (truly rare patients), not the rule. And perhaps you may just be a “carrier” for a rare type, even if it’s not fully expressed in you. (Much like how Dr. Meglathery suspects many of us may be carriers of CAH, even if we don’t have CAH directly in her RCCX Theory. She calls this “CAH1”.)
And never mind the effect of epigenetics in all of this! (Not all genes are expressing all the time, or not fully, etc.) It’s really much more of a spectrum to me than a clear black and white, all or nothing disease any more. (So many variables, so little time.)
Toss in myriad genetic variations in your methylation cycles all of which I’m sure can contribute to our overall well-being and variable ability to detox among other things, as well as variable diets and environments, and it’s a wonder they even thought it was genetic to begin with! (It’s looking less so the deeper I dig, or at least, less mono-genic anyway.)
[Aside: no, I do not fully agree with Debby McQueen that MTHFR “causes” Hypermobile type EDS, but… I DO agree it may well amplify or lend to it for the reasons she delineates and that treating any MTHFR defects may well help as she found with her family. I say this because MTHFR is known to run in at least 40% or more of the general population. And so technically if it did “cause” HEDS, then 40% of the population would have signs of hypermobility – and even I don’t think it runs quite that high! (I’m willing to bet dark chocolate it’s at least 10% and maybe as high as 20% currently, but not much more – yet.)
Also, the collection of Mast Cell Activation Diseases is collectively known as MCAD, not Mastocytosis aka “masto” as she states, and which is just one of many forms of MCAD. Not trying to pick on her, just trying to clarify correct information and keep us all discerning. I do like her thinking, and am impressed with her findings and results. /End aside.]
Once again it’s late, and I’m tired, and so I’m going to leave this here for now. I may well modify this post later as I think of more juicy reasons I find EDS so highly variable in both presentation and onset, leaving it so poorly recognized still due to being mis-characterized as “a genetic collagen defect” (or even “collection of genetic collagen defects”) lending to the black and white all or nothing thinking in the medical world about it. (Just because your doctor leaps off an information cliff like a lemming, does that mean you should too?)
I’m increasingly convinced it’s likely a huge collection of collagen, Tenascin-X and other connective tissue defects with several potential amplifiers (epigenetics and methylation being the two biggies), not all of which are equally expressing. We’ve all just been seduced by the early findings from the low-hanging diagnostic fruit found to date.
Again, I eagerly await what the working groups come up with since the International Symposium met last May 2016. But I’m willing to sit on my hands and cut them some slack in light of what I just opined above – this is an extremely large “animal” they’re trying to get their arms around, and I’m pretty sure it’s a steadily moving target as science continues to catch up and uncover more types and variable features.
I understand the hesitation to include the seemingly benign albeit grossly bendy patient (like I was as a child) who is able to run around and dance and perform like some on America’s Got Talent etc. But I’m willing to bet they either have or are related to someone who has some form of EDS at the very least! And you shouldn’t have to wait 25 years from first major complaint and become wheelchair bound to suspect it. (And no, blessedly many will never have any major problems – but gee, wouldn’t it be nice to know so you can prevent any major injuries by avoiding things like roller coasters and high velocity neck thrusts at the chiropractor’s?)
All I ask is for everyone to be more dialectic in their thinking – that is, feel free to hold an opinion, but allow for other possibilities as you proceed. That is, don’t stick like glue to the first or only thing you’ve seen about the disease to date, where ever that may have been (medical school, the internet, or an outdated text book). Take it as a starting point or guideline, but listen to the patients who are living with the disease!
I dearly wish I could download all I’ve got stored in my brain after reading thousands of posts from thousands of patients for the last five years as I fell down this rabbit-hole to everyone reading. (One of my groups alone has over 12,000 patients in it now, and I’m in about 20 groups. Subtracting for overlap, I’d conservatively guess I’m seeing at least 15,000 distinct patients total across the collection all complaining of their issues – sometimes more than they do to their own doctors! And I have a semi-photographic memory, whee.)
Yes, I’m working on my book to that end, just struggling to describe this very large animal I’ve alluded to so far while lacking scientific backup for much of it. But I’m getting there. (Nearing the half-way mark as we type, finally, thankfully, ahhh… splat.)
But hopefully, at the very least, it’ll change a few mindsets to be a bit more nuanced and allow more ‘Shades of Grey’ than we’ve seen to date. I hope you’ll join me in thinking outside of the black and white boxes we’ve been pigeon-holing everyone in to date. Feel free to return to those exciting romance novels, but I defy you not to think about hypermobility now as you read them, smile.