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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 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” (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!) 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!

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Happy New Year! I hope you all survived the holidays with a minimum of pain and reactions, though I know just how tricky that can be. (And how.) This year I’m going to stick my hand out and solicit donations to help support my blog hosting fees ($120/year including some site security which you want me to have, trust me!) due 1/30/16. I welcome any amount you can throw me here, thank you so much: http://paypal.com/jandroid

Technical note 1/22/16: I’m trying to migrate this site, apologies in advance for any hiccups or downtime, thanks for bearing with me! (Should be pretty seamless except for a brief downtime at some point in the next week before 2/1.)

January is Thyroid Awareness Month, one of our most common comorbidities in the EDS community alas. I see all forms of thyroid imbalance commonly among us including the autoimmune forms called Hashimoto’s Thyroiditis and Graves Disease. I’m pretty sure these latter forms are driven by the chronic inflammation we all enjoy from likely leaky gut (in most if not all of us) from stretchy and weak inner tissues and epithelial layers, and chronic inflammation from comorbid Mast Cell Activation Diseases (any form, Masto or the newly recognized MCAS).

I’ve also just recently learned via the Autism and Autoimmunity Summit last week (January 12-18, 2016) that hypothyroidism may be driving some of the autism spectrum we see so commonly comorbid also. Especially if mom and baby both have it pre-term! The exciting news there is, that makes some autism preventable by merely adjusting mom’s thyroid levels pre-conception! And, most thyroid imbalance is also preventable and treatable naturally through a proper nutrient dense organic whole-foods diet among other things.

Uhm, gee folks – sounds like we could put more than a few doctors out of business if we just ate right! But especially with Ehlers-Danlos Syndrome, which causes us to get fewer nutrients from our food due to our weak gut linings and squashed villi. Maybe juicing and eating whole organic foods doesn’t sound so bad now after all…

Our Stories of Strength (TM): Living With Ehlers-Danlos Syndrome First Edition including my short story submission was released FRIDAY MAY 8th, 2015! You can order it either in Print or on Kindle here now!  Included in the anthology are stories of adversity, misdiagnosis, heartbreak, and devastation turned to strength, determination, and perseverance. Each story submitted is reflective of common issues faced by those living with the invisible illness and has been noted within the medical community as providing “doctors the strength to find solutions.” (Pradeep Chopra, MD) I’m so grateful to Mysti and Kendra for providing this platform to share so many of our stories including my own. Hope you enjoy! (Be sure to leave a review on Amazon later!)

Technical note March 2015: for unknown reasons, my site no longer prints from Firefox or IE browsers, but does from Chrome and Safari still. We are unsure why, and I am focused on content creation, so I’m not likely to resolve this any time soon, sorry. (Yes, I’ve taken it up on the WordPress Forums).

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Intro for new visitors: This site was born in 2014 from the need to put all the amazing things I’ve learned for the last two years since becoming disabled by Hypermobile Ehlers-Danlos Syndrome (and several major 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 noticably 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 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, tendonitis, 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!” – 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 subclinical (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 I now know, so apparently it’s genetic timing or hormone driven in my 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 (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, futher 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.