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Ehlers-Danlos Syndrome, Mast Cell Activation Diseases and POTS –  Oh! That’s Why I‘m So Tired!!

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Oh TWIST!

And maybe that’s why you’re tired too… join me on a journey of discovery about one of the most poorly recognized and unbelievably tangled health webs you can find… involving not just one, but several intertwined systemic conditions I personally unofficially call the “Chronic Constellation” for lack of a better name that are each alone enough to take a person down at the knees, but combined, can be downright show stopping, if not even lethal sometimes, sadly.

Yet barely 10% who have this “trifecta” of EDS (or an HSD since 2017), MCAD and POTS (plus many variations and additional issues including autism and weak immune systems) get properly diagnosed as of 2014, and it takes 10 years on average to get diagnosed with Ehlers-Danlos Syndrome. (It took me 25!) Most are currently getting diagnosed with Fibromyalgia or ME/CFS, if anything at all. This site is my attempt to help remedy that for everyone – both patients AND doctors!

Hypermobility Spectrum Disorders aren’t rare, they’re rarely diagnosed!

News and Events

July 11, 2017: I was just made aware that world renowned leading MCAS specialist and author of the first book on the disease Dr. Lawrence Afrin (hematologist) is joining Dr. Tania Dempsey in private practice at Armonk Integrative Medicine. He has notified all of his patients at the U of M (Minneasota) accordingly. They also will not be accepting insurance, but instead will provide you with a superbill you can submit to your insurance to be re-imbursed, if allowed. Else plan to cough up some serious cash, their rates aren’t cheap from what I hear, sorry, possibly as high as $2000/visit, not including labs. (Hey, one of my dear friends is stuck raising $200,000 for brain surgery for her poor son with really bad hypermobility with one of the only specialists willing and able to treat him, so… it could be worse!)

Dr. Afrin is continuing to offer free consultations with YOUR DOCTORS however during and after this transition, to continue helping more get up to speed diagnosing and treating this tricky disease. Please respect his request to not jump the line and call in as a patient if you are on the wait list to see him as described here. Best of luck, and be patient and keep the faith everyone: you can eventually see him if you are willing to fund raise and wait long enough (health permitting). Or better yet, have your doctor to consult with him! And keep studying the latest information on my MCAD resources page here to help bring your own doctors up to speed meanwhile until we can successfully “clone” him a few hundred times… (one day!)

June was Migraine Awareness Month, yet another of our MANY painful and often debilitating comorbidities with both EDS or an HSD and MCAD of any flavor. I’m increasingly convinced mast cell over-activation may lend to them in fact based on my reading of the literature. (See more here.) Anyway, you have my sympathy. I don’t have a tip on July’s causes to raise awareness for; if you do, let me know at info@ohtwist.com.

Although May is now over, I’m going to leave up the info from it for now (still, July, 2017) as we have so much new and updated information, I think it’s worth continuing to see.

May is (was) Ehlers-Danlos Syndromes Awareness month and boy do we have some updating to do! Thanks to the brand new 2017 EDS  nosology and diagnostic criteria published March 15th, 2017 there are 7 new rare types to know about (making a total of 13, up from 6 before), and they have tightened the criteria for the most common form, hypermobile EDS making it (technically) rare again.

ALL 18 PAPERS covering all aspects of the NEW Ehlers-Danlos Syndrome revised nosology and diagnostic criteria are here now too. For those unaware, this is the FIRST update since the Villefranche nosology was presented in 1997 (20 years!), and this also supplants and replaces the Brighton Diagnostic Criteria for Joint Hypermobility Syndrome which some also used to diagnose hypermobile type EDS also. So there will at least be no more confusion between Brighton and Beighton going forward, even if many of us no longer count as bendy!

Please download and share these papers as far and wide as you can while they are freely available for the next month (through June 1, 2017). Many thanks to The Ehlers-Danlos Society and The American Journal of Medical Genetics (and all of the authors) for generously making these available temporarily for FREE to help get the medical and wider world up to date on this new diagnostic criteria as quickly and easily as possible. And thank you for your patience while I slowly but surely update all of my website pages accordingly. I’m suffering from some form of this painful condition and many of the comorbidities too after all!

You might wish to refer to this FAQ document previously shared by The EDS for clarification on the new criteria and terminology update as well. We will now be referring to EDS in the plural as the “Ehlers-Danlos syndromes” with an “s” on the end. (Or trying.) As well as diagnosing an entirely new category of several Hypermobility Spectrum Disorders for those who look a lot like they have EDS, suffer much the same, but don’t meet the criteria for any more specific diagnoses involving hypermobility of varying degrees yet.

I.e, they are subclinical for hEDS as I was for my first 44 years, and may now be technically again since I stiffened so much with age and arthritis. Kind of like how Pluto was re-classified to a dwarf planet 10 years ago right? It never changed a spot. These also all supplant and replace the former diagnoses of Hypermobility Syndrome, Joint Hypermobility Syndrome, and Benign Joint Hypermobility Syndrome to my understanding.

The criteria for what has been called hypermobile EDS or hEDS were just tightened, so I will no longer refer to this form as common anymore accordingly. I actually no longer meet the new criteria since it requires a much higher Beighton 9 pt score than before. I now fit one of the forms of the new catch-all bin of the Hypermobility Spectrum Disorders better even though I was extremely bendy as a child, but…

NB you do NOT need to “lose” your diagnosis of hEDS until/unless someone requires you to, such as to meet the criteria for a research study. Further, you will still have a diagnosis that represents a hypermobile disorder, but just with a different name. It is hoped this will lead to speedier presumptive care and management rather than just leaving patients suffering because they did not meet the new higher bar of hEDS diagnosis.

I, Jan, unscientifically personally now feel very strongly that the newly recognized Hypermobility Spectrum Disorders as such are NOT rare at all, but also just rarely diagnosed – and not just because they are newly introduced. But because they’ve always been dismissed as “normal” or early aging, or “just depression”, fibromyalgia,  chronic fatigue or hypochondria under any name/classification scheme when they should not be!

It is my deepest wish that one day, this disease cluster will be as well known as multiple sclerosis, and much more quickly recognized. Everyone knows someone with a hypermobility spectrum disorder, if not even EDS. I will continue to post and tweet to that end, while I finish writing my book. Join me.

Older news of note

EDS, MCAD with high tryptase (aka familial tryptasemia) and POTS linked by NIH October 17, 2016 – two articles delineating the results of Dr. Josh Milner’s study of comorbid MCAD and HEDS (plus dysautonomia) seen in a statistically significant number of patients at the NIH came out this week:

Yes, I was part of this study. No idea if I had elevated tryptase or not in the blood I sent, but I highly doubt it. So the $64K Q for me is: do I have this mutation? I also don’t know – yet. That said, I’m already managing the conditions (plural) pretty well already, so I’ve got that bit handled, which is my main goal. (Everyone else can split hairs and fight over how to classify and recognize and validate us while I continue rebuilding myself TYVM.) Still, nice to see the fruits of his labor help move the ball a little bit down the field. And maybe make it easy to diagnose another small subset of the hEDS population with familial “tryptasemia” as he calls it. See his earlier recent update videos on my resources page.

Please note, the vast majority of Hypermobile type EDS cases even with MCAD of any flavor (masto or MCAS), POTS or other dysautonomia, or otherwise, still remain to be explained. Again, this only explains a small subset.

I can use your financial support at any level to help keep this blog online here thank you.

When to Suspect | EDS Support | About EDS | ComorbiditiesWhat is MCAD | Policies | Blog |Resources | The Chronic ConstellationContact

Intro for new visitors: This site was born in 2014 from the need to put all the amazing things I’d learned for the prior two years since becoming suddenly and severely disabled by Hypermobile Ehlers-Danlos Syndrome and several comorbidities into one spot so I could stop repeating myself! And to help more friends, family, doctors & followers “connect the dots” for themselves. In February 2012 after starting to weaken noticeably for about 6 months in late 2011, I suddenly went from walking to wheelchair in just over two weeks at age 45. Talk about your mid-life crisis, heh! I didn’t plan it, I swear – I was actually having one of my best database consulting years just prior.

I had been a fairly active and blessedly somehow fairly graceful folk dancer, photographer and gardener prior to that, leading a pretty full life despite chronic fatigue, chronic pain, low level fibromyalgia and sensitivities that periodically plagued me. (Allergies and headaches anyone? Anaphylaxis to bees & anesthesia?)

I had never been taken very seriously by doctors prior to this point outside of the Chronic Fatigue Clinic at Harborview Hospital in Seattle WA who did diagnose me with the still poorly defined Chronic Fatigue Syndrome in 1993 and others later with my fav, “just depression”. I’ve since determined I do not have true CFS as I later differentiated it even if I was legitimately depressed.

But now, suddenly in 2012 we had no choice: I suddenly weakened severely all over, split my right SI joint, subluxed (partially dislocated) my right leg as well as all my fingers, ribs and toes before my onset “storm” was over in February 2012. Yes, quite painful, ouch! And I started passing out from mild POTS and MCAS. Now my doctor was listening! Me too, after being taught to ignore all my body’s signs and signals by everyone else all these years. And I was finally diagnosed with the likely cause: hypermobile Type Ehlers-Danlos Sydnrome or hEDS, one of a collection of rare genetic collagen and related connective tissue defects that leaves a body with weakened connective tissues of all kinds from head to toe.

I say likely, as there is currently no single tissue marker identified for the hypermobile type of EDS, but we ruled out the only other likely kinds I might have with a blood test, leaving this as the best fit for now. I.e, I was diagnosed clinically by my geneticist using the Brighton Diagnostic Criteria in use at that time. (This has just been obsoleted as of March 2017.) We now see this running clearly on my late father’s side of the family, but I now also suspect my late mother in 20/20 hindsight, which may explain my “severity”.

I later learned about and recognized my additional comorbidities mentioned above (MCAS and POTS among others) with the help of my online support groups and Patricia Murray-Wood (@Mastocytosis) who followed me (@jandroid) on Twitter of all things. You guys are my lifesavers, truly, thank you all! I feel like Alice down the rabbithole – only with extra rabbit-holes at the bottom of that! (Follow this blog on Twitter @H2OhTWIST and Facebook at http://www.facebook.com/H2OhTwist.)

image of DNA helix with added protein spirl on side

Lambda insertion in DNA helix

Weak and fragile skin, tendons, ligaments, bones, tooth enamel, blood vessels, GI tract, muscle tears and weak sphincters (all kinds!) – you name it, we experience all the defects you can imagine would arise from faulty tissues in so many systems built with collagen. This makes it chronic and systemic. And extremely painful, yes. Fibromyalgia is very common in the community. (Hold that thought!)

Painful hernias, aneurysms, prolapses, hemorrhoids, tears, strains, sprains, joint dislocations and subluxations (partial or “reducable” – or “replaceable” – dislocations or being so-called “double-jointed”), early onset arthritis, tendinitis, flat feet, bad cartilage and breaks. We’re the folks who fatigue and fall apart easily and early! Bi-lateral hip replacement at 50, anyone? Bad knees? Common in us!

The irony is,we are also very stubborn, hard-charging, driven folks up until we do. So we really struggle to give in to the condition, and many like my father and some doctors I know never admit how bad they are, lending to the difficulty in recognizing it earlier. Being surrounded by family members who also have various issues and chronic pain, we tend to normalize our condition, and not recognize it as outside the norm. “Everyone’s body does that!” you say – no, they don’t!

Sadly, doctors have also all been told this condition is really rare, and that they’ll probably not see many cases in their careers, and are given (or can remember) only the grossest signs of the rarest types! Most are looking for stretchy skin and gross dislocations which happen in less than half of cases. Naturally this leads them to miss a huge number of both less rare and sub-clinical (not so grossly visible) cases that come through their doors every day! Update march 2017: As well as the entire new category of what were formely seen as subclincal hEDS cases called Hypermobility Spectrum Disorders.

I was subclinical until my “storm” of 2012 – I didn’t “catch” it then (I’ve “had” it since I was a zygote, smile), it just suddenly advanced severely for some strange reason. Usually there’s a clear trigger to such a rapid onset “cascade” or “storm”, like a car accident, death in the family, bad viral illness, or other trauma. (Just like with fibro, no surprise.) My elderly aunt experienced a similar history in her 40’s without any obvious triggers I now know, so apparently it’s genetic timing or hormone driven in our case. (Progesterone makes you more lax, so women show more obvious signs of hypermobility in general, and yes, especially during PMS.)

We are the “frequent flyers” in the medical system, with all our myriad seemingly unrelated issues including mental health.  Depression and anxiety are also rampant among us even if many won’t admit this. As Dr. Heidi Collins just quoted someone in her talk at the 2014 EDNF Learning Conference this year:

If you can’t connect the issues, think connective tissues! – author unknown

And ironically, I’m finding a lot of my fellow “zebras” (folks with EDS) are proving to be some of the most stubborn, hard-headed black-and-white thinking and pushy folks I’ve ever met! Here I thought just my family was this way all along, but no… we are those often smart, hard-charging, ambitious, perfectionist and narcissistic people who drive each other nuts! And how! So many of our “elders” (my parents, e.g.) will not admit to having a problem, only getting diagnosed by proxy to their more stricken child (someone like me) later, if ever. Toss in the misunderstanding about the incidence of it in the medical world and thinking it’s so rare when it’s really not, and it’s no wonder so few of us get diagnosed!

My parents were also both alcoholic, further muddying my own diagnostic waters – I blamed all of their problems on their obvious smoking and drinking of course. My dad refused to see a doctor – he knew they’d just tell him to quit smoking and drinking, which he wasn’t going to do. I finally gave up trying to get him to either and left him in peace and got on with my life. But he was always happy to nit-pick my health and well-being, and tell me just exactly how I should be doing things.

I’m now willing to bet a lot of our homeless and drug-addicted youth are possible undiagnosed EDS patients, trying to cope with chronic pain, depression and difficult families. I’ve even met a few in the last couple of years who agreed this was likely so. It could sure explain a lot of so called “drug-seekers” in our system. They probably have very real chronic but invisible pain and sensory processing issues for lack of proper recognition. (See When to Suspect for help with that.)

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Picture of Jan

Jan circa 2010

Lastly I’ll add that I’m seeing a lot of comorbid autism spectrum and related disorders in EDS families (stubborn sensitive Aspies, anyone? OCD? ADD? ADHD? SPD?), and dare I posit that maybe some of our doctors and nurses may just share a touch of this trait…(you’re all such good academics and science nerds, after all!) which may add to the difficulty in convincing them to see us in the subclinical forms as I was for my first 44 years.

Well, denial is not a river in Egypt! And I think we’ll ALL do better to start looking for a condition that leading experts now think may run as high as 2% of the general population (if not more IMHO). That’s 1 in 50 people if not more, folks! Look around you – you know at least a couple already, even if they’re not diagnosed! (They’re probably recovering from hip, knee or dental surgery or seeing a chiropractor, though). I dearly hope my site helps more people recognize more subclinical EDS patients, and stop thinking it’s so rare! We really have you surrounded, smile.

Thank you for reading to that end. I hope you’ll join me in helping to raise awareness! Jan Groh 2014. Like what you see? Please consider supporting me via PayPal here thanks.