Thread by @Weather_West

Although I almost always keep my Tweets focused on weather, climate change, and related Earth system events, this thread is going to be a little more personal. May is #EhlersDanlosAwarenessMonth...and I have Ehlers Danlos Syndrome (hypermobility type). #hEDS (1/41)

Before continuing, I want to emphasize that I'm #NotThatKindofDoctor--I'm a physical scientist & science communicator, not a biomedical scientist nor a medical doctor. All the information and reflections in this thread are therefore either personal reflections... (2/41)

...or come from the perspective of a "highly informed patient." I do, however, strive to get the facts right, and offer links to various true experts in the clinical and research fields below. (3/41)

Now that I've gotten that out of the way: The #EhlersDanlosSyndromes (there are 13 distinct varieties currently recognized, and there may well be more as yet undiscovered "flavors") are a cluster of heritable connective tissue disorders. (4/41)

"Connective tissue disorder" means a process that affects the "glue" that holds human (and non-human!) bodies together--the collagen and related tissue that literally connects our bones, muscles, organs, blood vessels, and etc. (5/41)

EDS generally runs in families, and is thought to have a strong genetic component. Specific genes have been identified for most of the 13 forms--except for, somewhat surprisingly, the hypermobile form--which is (by far) the most common! (6/41)

Although the primary symptoms were once thought to be musculoskeletal in nature (frequent dislocations/subluxations/joint pain & instability)... (7/41)

...It is now clear that EDS is a systemic condition affecting most body systems and with numerous gastrointestinal/neuroimmune comorbidities. (8/41)

Just how common is Hypermobile Ehlers-Danlos Syndrome (#hEDS)? Estimates vary quite widely. At one time, it was thought to be a fairly rare condition—affecting perhaps 1 in 5,000 people. (9/41)

More recently, though, it has become clear that it's probably far more common—likely affecting 1 in 200-500 people!! (10/41)

With that level of prevalence, the average high school graduating class probably has (statistically speaking) at least one or two people affected by hEDS. (11/41)

All of this begs the question: if hEDS is really that common, why have most of us never heard of it? (I certainly hadn't until a couple of years ago.) Well... (12/41)

I am certainly no expert in the history of modern medicine. But as many seasoned chronic illness and disability advocates will point out, complex conditions that don't have a well understood root cause have historically been relegated to the far corners of medicine. (13/41)

Certain conditions aren't seen as "real" until there are clear, readily measured biomarkers--an issue further amplified when such conditions preferentially affect already marginalized communities. (14/41)

Like many chronic illnesses, #hEDS seems to affect women more often than men (by an approximately 2:1 ratio, though even this number is pretty uncertain). (15/41)

Often, folks experiencing mysterious and vague symptoms--even if they are quite disruptive or even disabling--are incorrectly perceived as "malingering." (See: "medical gaslighting") (16/41)

Because the non-musculoskeletal systems are not widely known, even to most physicians, and because #hEDS is still commonly viewed as rare (rather than merely "unusual") condition, the vast majority of clinicians don't think to consider EDS in their patients. (17/41)

In retrospect, I've had #hEDS-like symptoms my whole life (for over 30 years)--yet none of the (many dozens) of physicians and specialists I've seen recognized it until just last year when some symptoms started to become a little more distinctive. (18/41)

This experience is not at all uncommon among people with various forms of EDS. Often, years or even decades go by before a diagnosis is made. And unfortunately, that's not the end of the story... (19/41)

...Because even with a diagnosis, it is extremely difficult to find doctors and providers who understand the complex constellation of syndromes and symptoms that come with EDS. (20/41)

In addition to often disruptive (and, frankly, sometimes bizarre) musculoskeletal symptoms (nearly continuous dislocations, subluxations, and/or joint pain for some people)... (21/41)

...Many/most #hEDS folks also have issues with Mast Cell Activation Syndrome (#MCAS) and/or Postural Orthostatic Tachycardia Syndrome (#POTS). These can manifest as sometimes severe gastrointestinal and/or circulatory system symptoms... (22/41)

...Which in some folks are actually even more problematic than the more "classic" musculoskeletal issues (myself included). These are the ones that really throw physicians for a loop--even though there do exist interventions that can be successful. (23/41)

So, why am I writing this thread now? Well, as I mentioned earlier, May is EDS Awareness Month. And this happens to be a condition that is widely under-recognized and under-diagnosed. #hEDS (24/41)

Statistically, several hundred of my followers are probably somewhere on the hypermobility spectrum, and perhaps 100-200 of you have some form of EDS. And a majority of them probably don't even know they have it! (25/41)

So if any part of my story sounds familiar, I’d strongly encourage you to ask your doctor about the possibility of a connective tissue disorder, and #hEDS in particular. (26/41)

(I realize that is, for a variety of reasons, often easier said than done—but we’ve all got to start somewhere. If that doesn't work, seek out specific physicians who are EDS aware.) (27/41)

Partly for my own edification, but also to help other folks, I have started to maintain an Ehlers Danlos-focused Twitter list composed of various MDs, researchers, practitioners, and patient advocates: twitter.com/i/lists/148134… (28/41)

I'd also like to highlight the @NorrisLab--one of the few biomedical research labs in the country (and even the world) focusing on #EDS and related conditions. thenorrislab.com (29/41)

One unusual fact: several Norris Lab researchers themselves have #hEDS and have become public advocates in addition to their scientific role. postandcourier.com/health/musc-st… @CortDoesScience (30/41)

Finally, I wanted to reflect briefly on the tension inherent in being a professional scientist-communicator and having to learn to navigate the extremely complicated and often conflicting information landscape as a #hEDS patient self advocate. (31/41)

The first awkward realization is that, despite the fact I have no medical training at all (again, #NotThatKindOfDoctor)... (32/41)

...I now generally know more about #hEDS and its comorbidities than my my physicians after reading numerous scientific papers and speaking with true domain experts (researchers and MDs with practices focused on complex/illness). (33/41)

That really complicates getting effective medical care. No one wants to be the "self-diagnosing" patient (and most doctors don't like those patients, either!)--and yet, without being a strong self-advocate in the doctor's office, there's never any real progress. (34/41)

This becomes especially fraught as a physical scientist who engages in extensive science communication on climate change and related issues and who is painfully aware of the importance of being honest about the limits of one's own expertise. (35/41)

And the information landscape itself is a real challenge, since authoritative & reliable sources are often hard to find. Patient support communities are invaluable; yet they are not vetted, and (necessarily) full of individual anecdotes. (36/41)

The relevant scientific literature is difficult to physically access, often highly technical, and is presented largely absent necessary context for the casual reader. (37/41)

If it's this difficult to parse even as a professional scientist and science communicator, I can only imagine how challenging this task is for most other folks struggling with complex/chronic illnesses. (38/41)

Ultimately, it is my hope that this thread may help at least a few folks who see it--and perhaps some of the embedded links and lists will help other members of the existing community to connect and commiserate. (39/41)

After this thread, I plan to go back to regularly scheduled weather, climate, and Earth science programming. But, in the meantime, thanks for listening! (40/40)