Fasten your seatbelts and settle in with a snack again, you’re in for another long ride, smile. (I’ll try not to make it too bumpy!)
Hopefully you’ve heard of “The Trifecta” by now – that is, the relatively common trio of issues we find comorbid in the Ehlers-Danlos community of any form of EDS (or the newly recognized, less visible diagnosis of Hypermobility Spectrum Disorders since March 2017) plus MCAD in any form (either Mastocytosis or Mast Cell Activation Syndrome) and finally Dysautonomia which all have to some degree. Many will even have the specific subset known as POTS.
Some will have the Hyperadrenergic variant of POTS aka “HyperPOTS” and others will have other forms of Orthostatic Intolerance, and all other variations of dysautonomia you can describe. (Raynaud’s phenomenon or syndrome, livedo reticularis, NMH, more.)
I personally consider most POTS and all manner of “Dys” to be the likely “love-child” of having weak connective tissues lending to flaccid veins & weak valves (lending to blood pooling in the lower extremeties) and stretchy bladders that help you pee out more than you take in thus lowering blood volume, and the effect of Mast Cell mediators rampant in our systems which lends to vaso-dilation and lowers blood volume further from third spacing and angioedema. Among other things.
Toss in a little neuropathic or neurogenic trouble from cranio-cervical settling and instability impinging our brainstems and other bits of our neurology (impinged vagus nerve making you vomit, anyone?), and of course we struggle to regulate our breathing, heart rate, blood pressure, temperature, motility and more.
I rarely meet anyone who doesn’t show signs of either of the other two “legs” of The Trifecta once you drill down far enough and acquaint them with the other sides of the triangle. I know there’s a small camp that believe some POTS and dysautonomia is primary and autoimmune driven, and that may well be in a small subset. But not in the majority by far with EDS in my unscientific observation.
I often find the reverse to be true as well – people who identify as “just” having either Mastocytosis or MCAS (forms of MCAD) will often complain of all the signs and issues that go with both mild EDS of some kind or the new (since 2017) Hypermobility Spectrum Disorders, plus mild POTS or dysautonomia. But if they aren’t yet aware they won’t recognize those other two players.
And finally many EDS and HSD patients later find out the hard way they also have a form of MCAD and also various forms of dysautonomia once they get into the support groups too if they haven’t been told already.
Is it Really Fibromyalgia or Chronic Fatigue Syndrome
The body can only express itself in so many ways with weak connective tissue. So these are apt to be common experiences and most of the milder forms have been quite well “normalized” as fibromyalgia or just being a bit weaker, quicker to fatigue or low energy. Many are diagnosed with Chronic Fatigue Syndrome, a misdiagnosis in my opinion for many. (Not all.) And my favorite: “just depression“, especially if you’re female. Like that’s a minor issue either, sigh.
No, this is no cake walk. And managing The Trifecta alone is a major undertaking for most who have become clinical enough to be diagnosed with any part of it. It is downright show stopping for too many, especially those with increased cranio-cervical instability lending to the issues. My heart goes out to all of you!
I only had a bit of CNS Apnea making me forget to breathe from mine at my worst thankfully, knock wood quick! I do still get brain juice headaches and have increasing photophobia and hyperacusia but it’s more manageable than many.
The Elephant Project has been discussing this for years over on Yahoo, among other things. (I can’t keep up with all the forums currently though I try my best.) There are some really smart people there circling the same hill or drain many of us have, trying to find an answer to why we enjoy so much trouble.
But wait, there’s more! You didn’t seriously think that was all I was going to share of something I’m calling “The Chronic Constellation” did you? Did you?? Ah my dear Alice, we have not only not hit the bottom of our rabbit-hole yet, but it has more rabbit-holes attached to explore, and a whole feral pack of Cheshire Cats to deal with!
This next bit is even more poorly correlated to date, so it comes as more of a surprise to my followers than the above Trifecta. But every single person in the room at the support group meetings I lead ends up owning up to experiencing or having a family member at the very least with one or more parts of this Second Trifecta no one speaks of very often yet (hold that thought too):
Everyone I meet with EDS seems to either be on or at least related or even married to someone on the autism spectrum. I’m including the former diagnosis of Asperger’s which I’m well aware the DSM-V did away with in the US in 2013. Many Aspies still self-identify as Aspie though, and likely will continue. I now consider myself a very likely Hidden Aspie, or so-called “autistic cousin” and see many signs in my late family in 20/20 hindsight though none of us ever got diagnosed.
And I only strongly suspected myself after 3 different people in my support groups asked me if I was autistic first mind you. It’s increasingly obvious to me the more I learn about it though.
Conversely, since befriending several autistics and autistic cousins in the local autism support groups this past year, I’ve found the reverse to be true as well: almost all showed signs of bendiness (hypermobility) to varying degrees, and complained of many of the same health issues I’ve had all my life including heavy allergies or at least sensitivities among other things. (Autoimmune diseases, fibro, IBS, more.)
I also find the following neuro-divergent and psychiatric constellation really common in our group as well, on the spectrum or not: anxiety, depressive disorders, ADD/ADHD, OCD, SPD, PTSD, mixed mood disorders, Bipolar, Borderline Personality Disorder, Narcissistic Personality Disorder and any and all variations thereupon you can find. Dual diagnosis anyone? Try “Hexa diagnosis” in some. And no, I’m not kidding, they’ve voluntarily shared their diagnoses with me in some cases even without my asking.
(I seem to make people feel safe to share such things. Maybe because I’m so honest about my own issues/shortcomings/family.)
We really must stop trying so hard to classify people into single boxeswith our short sighted views; further, I’ve personally observed people’s conditions and mental health and neurology to change over time – and diagnoses to change or resolve, frankly. Yes I speak from experience in at least one case.
Of course, we are often quite loathe to admit to any of this not only from the social stigma all too sadly attached to having mental illness or neurodivergence of any kind despite how common it truly is, but because way too many of our doctors proceed to write off all of our very real pain and physiological issues to “just anxiety” or depression, sadly.
I’m now deeply convinced the hEDS population is the reason I keep hearing “depression causes pain”. It doesn’t. It comes with a lot of pain folks! Wake up andvalidate our pain!
I had never heard of Common Variable Immune Deficiency until a fellow zebra (EDS patient) got diagnosed with it in my local support group in 2012 after I suspected her of having MCAS. The doctor she saw did not recognize her MCAS (he only recognizes Masto yet) but did suspect her of CVID. Upon investigating it, I realized this was also a very common presentation in our large online support groups.
Further, I recognized mild signs of it in my own family once again. I myself got sick a lot as a child, and with strange odd bugs that no one else in school got like croupe (but somehow not Chicken Pox until college – go figure!) My dad was discharged early from the army during the Korean war after ending up in a medical coma when he succumbed to scarlet fever and either measles or mumps – I forget which, and maybe both. (They gave him the option of early honorable medical discharge once he recovered and he took it.)
I found myself prone to lots of lung bugs and infections in later years catching anything that had ever passed through any new house or office I entered. I did manage to shake off all my bugs in a decent amount of time. But I do still catch any virus that even looks at me and have a chronic case of blepharitis (eyelid infection) I still can’t shake even with bacterial ointment. My 23andMe data shows my IgE and IgA systems to be thrashed according to one analyst, though I don’t count that as a diagnosis.
I’ve seen many in the group end up on either Meyer’s cocktails or IVIG infusions. And every time I describe this in our support group meetings, others immediately own up to either being diagnosed with it, or related to someone who should be diagnosed with it if not already from the description. Oh that’s why we’re sick so much and so often! Boost those immune systems, everyone and keep your Vitamin D up!
Autoimmune disease of any and all kinds. (Seriously.)
No, Ehlers-Danlos Syndrome itself is not autoimmune. But, I’m finding it is really commonly comorbid in people with any and all forms of autoimmune diseases. Or vice-versa, if you prefer. No, not 1 to 1 yet, but at an anecdotally awfully high rate. Yes, this was a shock to me! I kept thinking “oh those poor souls who happen to have both issues”, until I became one of the very few I found whodon’t yet besides some osteo-arthritis which I’m not counting as it’s sort of de facto in us.
I do have the factor (HLA-B27) for Ankylosing Spondylitis, a form of autoimmune spinal arthritis which runs in my family, but it has not developed yet in me knock wood as far as I know. My dad called it “Marie-Strumpell Disease” and spoke of receiving deep x-ray therapy for it back in the day – no kidding! My parents were born in the 1920’s and were 40 years old when I hatched, so they’re the same age as many of my colleagues’ grandparents, yes. Whence the very outdated disease reference – and treatment – no one but me has heard of! Story of my life.
But I have been checked for it more than once through the years and so far I am negative for it, thank heavens. I of course suspected AS first based on family history and my early onset lower back pain before I ever knew about EDS. Trust me, I’m happy to be negative – I have plenty else on my plate to manage already! That said, I now really appreciate my elderly aunt Kathleen’s incredible strength and grace making it to 92 (so far) with all of the above, albeit not all diagnosed. She did have her AS diagnosed, along with spinal stenosis, herniated discs, sciatica and more, just not EDS.
That said, I’ve been following some of the best functional medicine doctors and health coaches on the web the last three years (Carnahan, Myers, Hyman, Lynch, Yasko, Trudy Scott, Mike Mutzel, more), and am increasingly convinced that all the autoimmunity is the likely result of chronic inflammation the combo of a weakened immune system allowing chronic infection (CVID), and our over active mast cells which fire off much too easily and often. Like a war-weary veteran, our poor overworked immune systems start engaging in “friendly fire” if you will, firing off even when they don’t need to at the least provocation, and upon “self”.
That said, I’ve just recently learned that apparently autoimmune disease can then trigger mast cell activation in return, forming a sort of vicious cycle of inflammation. I’m still trying to wrap my brain around this but have a friend who can speak from first hand experience. Hey, I’m not an immunologist or any species of doctor or scientist, just a well-read somewhat smart and pedantic patient, so I’m doing my best here! I welcome sources for that in the comments if you can throw me some.
I usually share this slide at my meetings:
But wait there’s more.
What? Are you kidding me?? Are you just attention seeking and picking stuff out of a hat to list now Jan?? Aren’t two “trifectas” enough trouble for more than two lifetimes?
Oh how I wish that were true dear readers, trust me! No, you’re getting the fruits of a semi-photographic pattern-seeking (likely mildly autistic) brain. Plus, if I were just picking disease out of a hat for attention, I’d be laying claim to having all of these things myself, and I’m not.
But I personally know way too many patients who do have a majority if not even signs of all, poor souls. Or all occurring within their family at least. Seriously. It’s heartbreaking to watch, I promise. They all told me so at the support meetings!
And we’re all in many ginormous Facebook support groups together, plus some others are on Inspire, some with upwards of 20,000 members, so I have a large data sample to pull from – more than almost any doctor I know of who’s not also in the groups with me!
All you doctors have to do is start checking your patient’s family histories more thoroughly – and you’ll see this pattern too, I promise. I’ll even wager my currency of choice: dark chocolate, smile.
Update February 2019: Hat tip a friend online who just noticed a sort of “pre-natal” version of my Venn diagram of the overlapping issues above here in this new paper:
So it looks like science is slowly catching up with part of this.
And not only are the above two trifectas common, but mitochondrial diseases and disorders are also quite common in us too, no kidding!
As well as any and all forms of endocrine imbalance or variances, especially thyroid (high or low), but especially low, and often autoimmune Hashimoto’s Thyroiditis. (No surprise!)
I honestly can’t make this stuff up folks – I wouldn’t have known where to begin. I’m just reporting from the field as it were.
Some functional medicine doctors think Hashi’s may be driven by a cross-reactivity to gluten. Apparently our thyroid protein looks like gluten, which may look like bacteria coats to our immune system, sigh – hope it tastes as good as we autolyse ourselves! But whatever the reason, I’m sorry to say it is very common, as is its opposite: Graves disease, the autoimmune form of hyperthyroidism (overactive thyroid).
Ironically I just learned that hypothyroidism in pregnant moms and newborns may lend to autism by altering neurological development, no kidding! That could sure explain a subset of our group right there! But I’m sure that’s not the only driver of autism. Nor of hypothyroidism. Nor do I think autism needs to be “prevented” nor cured to be clear. I’m just reporting on the health status of our families after meeting so many the last five years.
This is why I’m referring to this cluster for the moment as The Chronic Constellation. It’s also really late and I’m out of bright ideas and catchy names. This is not an official term – just a quick hook I thought of to hang it on, since it’s more than a Trifecta, and “Hexafecta” doesn’t quite roll off the tongue as well, nor cover it all. Plus, there’seven more to it.
RCCX Complex and Project
But I’m stopping there, as I want to share that I’m not the only one to be observing this particular Constellation of chronic issues in an apparent familial pattern. It turns out those smart folks over at The Elephant Project and a fellow patient who also happens to be a doctor also noticed the same thing, and started drilling down and finding some possible genetic causes for this involving the RCCX complex! (First shared Monday February 15, 2016 in one of the Facebook MCAD support groups I’m in by Sharon Meglathery, MD as far as I know.)
This is brand new information, and not at all verified yet. Dr. Meglathery who is bravely putting it forth is wisely seeking scientific backup through as yet unfunded and unperformed research. (Not for lack of effort on her afflicted part.) But I think her hypothesis holds a lot of promise.
But if this observation and hypothesis holds up, we may have the answer finally to why we can’t find a single genetic collagen defect underlying the majority of cases of the most common form of Ehlers-Danlos, the Hypermobile Type. (Aka hEDS) And further, why some are not at all or not very bendy with it, despite having all the rest of the trouble above, thus lending to the new Hypermobility Spectrum Disorders newly recognized since March 2017.
But even if not, I feel strongly these people are pushing the ball down the field and the constellation we observe definitely holds for whatever reason. I’m not the only one seeing it anymore, and that makes me feel better! In fact, Dr. Meglathery’s RCCX hypothesis is getting great reception in the support groups so far – it fits so many of us!
So don’t take my word for it, but stay tuned. I’ll of course keep everyone posted on any new developments I learn as I learn them. Follow me on Facebook or Twitter for the latest information at at all times. And if you found this information useful, I could really use your support at any level one time here, or ongoing here TY!