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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 a form of 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

December 3rd is International Persons with Disabilities Day and sadly way too many people with a form of the Ehlers-Danlos Syndromes or the newly recognized Hypermobility Spectrum Disorders and MCAD are partially or fully disabled. I still am, despite trying to work again part-time – it’s a full time job managing my illness outside of work so that I can. (And we won’t talk about my pain levels. If pain glowed you’d never let me out of bed, seriously.)

Anyway, if you are disabled to any degree, recognized or not, please know that YOU MATTER and I hear and see your pain. No matter what those around you or the media says. And we all matter and contribute to a better world even if we need help. (Feeling you don’t deserve help is internalized ableism.) Even if your family and doctors don’t believe or recognize you or your pain. You may be giving some one else a reason to live, even if you don’t know it. Seriously. So keep shining your light as best you can.  And think marathon not sprint if you’re trying to get diagnosed with either an HSD or EDS.

On a different note, I look forward to providing a way for those of you who are willing and able to support me financially to do so via a Patreon or Drip page early in the new year. All of my current content will still be available for free, and all of my blog posts will ultimately be free, but they may be available first to my paying supporters, then later to non-paying viewers after a suitable interval. (I care too much about getting the word out/supporting this community to put anything behind a paywall.)

I may also offer some 1/2 hour Skype consultations to patients and doctors at various support levels as well. Regardless, I have put in hundreds of hours on this site, and on Facebook and Twitter, working to bring you all the latest, greatest and most reliable information in the field at all times. This has been all out of my own very meager pocket on disability. Although I am working again part-time now, I still can’t afford to do this alone anymore. You can also send support to me now via PayPal here thank you. Any amount will help as my annual web hosting fees are due ($120), plus site security is now $50/month. And that’s to say nothing of my time and energy. Thank you!

May was (is) Ehlers-Danlos Syndromes Awareness month and boy did we have some updating to do in 2017! 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. Many thanks to The Ehlers-Danlos Society and The American Journal of Medical Genetics (and all of the authors) for generously making these available 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.   Intro to my blog and me for new visitors…

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