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Ehlers-Danlos Syndrome, Mast Cell Activation 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, 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 Chronic Fatigue Syndrome/ME, if anything at all. This site is my attempt to help remedy that for everyone – both patients AND doctors!

Ehlers-Danlos Syndrome isn’t rare, it’s rarely diagnosed!

News and Events

Update February 17, 2017: The Ehlers-Danlos Society just posted an FAQ’s document ahead of the pending new EDS criteria due to come out in the American Journal of Medical Genetics on March 15th, 2017. (If it’s not March 15th, they are not out, okay?) They will be posting the criteria on their website as soon as possible after the journal is published. Please read this FAQ document slowly and thoroughly meanwhile – and refer all questions to them. And try not to leap to erroneous conclusions. (I’m finding this common in the community, causing needless added stress and anxiety.) They still have your back, I promise. Even if it doesn’t fully seem like it. (I’m hatching another post to that end shortly.)

NO, the full criteria are not out just yet! But almost. Patience Grasshopper! (We are so not known for being patient.) Meanwhile, see the preliminary articles that have been shared behind a paywall already ahead of publication here:

Update February 7, 2017: Via The Ehlers-Danlos Society (aka “The EDS”) on Facebook the full new EDS nosology will be published on March 15, 2017. Meanwhile, some preliminary documents have been shared ahead of time, including one that talks about the new “framework” for recognizing and diagnosing the most common, hypermobile form of EDS.

So, lots will be changing, and thanks for your patience as I slowly get around to updating everything based on the information as it comes out. And follow me on Twitter and Facebook for the latest always. (See links to the right.) Thanks!

February is rare disease awareness month and the last day of the month (whether a Leap Year or not) is always Rare Disease Awareness Day in particular. So this year it will be February 28th of course (it’s not a Leap Year).

Although I’m often quoted as saying at least hypermobile type Ehlers-Danlos Syndrome is not rare, it’s rarely diagnosed, the infrequency with which it is still diagnosed still leaves it mostly in the rare category, even though awareness is ever so slowly increasing thanks to the internet and mainstream media.

One by one, stories are coming out in newspapers, on television series like House and Grey’s Anatomy (ABC). And patients are getting featured on their local news or in special series like DIY SOS in England February 2nd as I type this in fact. Along with social media like Twitter and Facebook, we’re slowly but surely growing the chorus of voices and getting it into the vocabulary and on the radar of doctors and fellow patients everywhere.

Some forms are still rare, some extremely so, in only a couple of families in the world. But as a whole, the collection of patients who fall under the EDS umbrella is steadily growing, even if we don’t yet know the main cause of the largest subset (hEDS) yet. We will in time. We will. But that’s why I like to call myself a horse.

Meanwhile I personally carry business cards with this website on them to hand people I meet in stores or while out who wonder about my body snatchers (why I still need a crutch). I always joke that they should see the other guy! But I never squander the chance to get a little education in while keeping things light. You could do the same, and list either this site, or The Ehlers-Danlos Society, or another site or local group too. In any case, it’s awfully handy when someone questions why you need that disabled parking spot!

It is my deepest wish that one day, this disease is a common term, and as well known as multiple sclerosis, and much more quickly recognized. I will continue to post and tweet to that end, while I finish writing my book. Join me.

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.

Sea change coming to EDS nosology in 2017

Congrats to all who made it to the  2016 EDS Global Learning Conference in Baltimore this past summer, I envy you! I’m also still in the dark about what all was shared there*, as I’ve since learned they’re asking people to hold off sharing much until the international working groups that met in May 2016 have had time to more fully compile the results of all their findings and discussions on the state of Ehlers-Danlos today. I just wrote a post about this here, urging Patience, grasshopper. (All good things come in time, I’m pretty sure it will be worth the wait.) You can also follow The EDS on Facebook and Twitter for yourself to keep up on the latest news and info with me. You might also follow co-director Lara Bloom’s page too.

Of course I expect and hope to be updating both my when to suspect and how to diagnose sections of this website accordingly after the meeting results are shared. Among other bits, including About EDS. I’m eager to share only the latest and best info to date, but will leave them as they are for now. Last I heard, rumor has it they’ll be sharing more after an article is published in early 2017, so thanks for your patience, and keep that open mind!

Meanwhile, please continue to help others connect the issues (dots) with us and recognize this condition sooner. I’m deeply convinced the most common form, Hypermobile EDS (formerly called EDS III, and often misdiagnosed as Fibromyalgia and JHS, HMS or BJHS)  is not rare at all, just rarely diagnosed. Cheers – Jandroid 3.

*Update 10/26/16: That’s no longer fully true since attending the 2nd Oregon EDS Conference Saturday October 22, 2016 and being privy to this slide set by Heather Purdin, she shared with permission from Drs. Francomano, Byers and Levy in her talk on the lastest diagnostic info on EDS. That said, while it’s clear we’ve found a handful more SNPs for some rare types, Hypermobile type still is being defined and discussed at length and we all still eagerly await the results of the working groups consensus in early 2017 some time as described here.

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

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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 EDS, a collection of genetic collagen 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 using the Brighton Diagnostic Criteria. 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.

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 hard-charging, driven folks up until we do. So we really struggle to give in to the condition, and many 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 only the grossest signs of the rarest types to look for! 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!

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 for some strange reason. Usually there’s a clear trigger to such a rapid onset “cascade” or “storm”, like a death in the family, bad viral illness, or other trauma. (Car accidents are a common trigger.)  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.

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, perfectionistic 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.)

EDS Resources | Books | Helpful Gadgets

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.