Jen Brea on whether some of us might be mis-diagnosed EDS patients.

[toyfoof]

@Gingergrrl thank you for this information! I used to see a cardiologist every couple years because of my mitral valve prolapse (during the time I probably had mild ME/CFS and didn't know it) and for some reason I haven't continued that. It's probably a good idea to hook up with one now and have them test for POTS as well.

 

[frozenborderline]

I also had extremely low NK functioning, non-existent vasopressin, etc, and by lab tests, I matched with my doctor's other ME/CFS patients at that time. Two of my major triggers were Mono/EBV and toxic black mold exposure. I also overlapped on many symptoms, like muscle weakness, POTS and all kinds of autonomic problems, etc, yet I was also very different. I think we are all Zebra-Corns (not even unicorns) until medical science figures this out.

I just read about the shoemaker protocol and they use desmopressin some, and Paul Cheney seems to think that CIRS is very similar in terms of blood flow and echocardiogram findings, to CFS. Interesting stuff. mmp-9 is also one of the elevated markers in CIRS, and is known to be implicated in breadown of collagen, although its relatively non-specific and can also be elevated by immune response to viruses, or bacteria

 

[frozenborderline]

Couldn't the connective tissue issues be a consequence of ME/CFS.

If we are use nonessential aminos such as glycine and proline for energy they are not available to be used for collagen in connective tissues. And if we are not doing much glycolysis we are making less serine and therefore less glycine.

I wonder if there is a sort of triage thing going on here with an algorithm that ends up favouring energy and some other functions over maintaining and rebuilding connective tissue.

it could also be a consequence of whatever is causing me/cfs--many viruses, bacteria, and even mycotoxins are known to increase the immune system's production of matrix metalloproteinases, @Hip has a post about this somewhere, which break down collagen. I think the rise in eds and cci prevalence may not be all due to better diagnostics and may have to do with some environmental factor--possibly "xenobiotic" as paul cheney says

 

[Murph]

Hey guys! Just a point of clarification:

"Jen Brea on whether some of us might be mis-diagnosed EDS patients"

This is not what I am saying in that piece.

Apologies for misrepresenting it!

 

[JenB]

Apologies for misrepresenting it!

No worries! A lot of people have gotten confused...having many upset messages?

Does this mean you don’t have ME anymore??
I always knew you had EDS!
Etc.

I probably have some kind of connective tissue disorder. I think it’s more acquired (e.g., via chronic inflammation) than congenital but I’m sure I must also have some kind of genetic vulnerability. When we tease all this out, we are going to understand *so* much more about the human body. It’s thrilling. Just wish the scientific community would hurry up and realize how awesome this field is.

 

[Gingergrrl]

When we tease all this out, we are going to understand *so* much more about the human body. It’s thrilling. Just wish the scientific community would hurry up and realize how awesome this field is.

Well said and I agree. I wish the scientific community realized how interesting it would be to tease all of these overlapping illnesses apart.

 

[lafarfelue]

When we tease all this out, we are going to understand *so* much more about the human body. It’s thrilling. Just wish the scientific community would hurry up and realize how awesome this field is.

Seconding agreement, along with Gingergrrl. I really appreciated how you phrased this in one of your recent posts on Medium; getting this message out and understood more widely by patient and carer populations is really important. (Hopefully I don't cop flack from others for saying that...)

Thanks so much for your continued efforts in communicating your experiences and broader approach to untangling some wildly intricate medical/health 'webs'!

 

[GypsyGirl]

Question for those of you with these diagnoses: what kind of doctor will diagnose MCAS and POTS? (I assume it’s two different specialties.)

I did a "poor man's tilt table test" on myself and recorded results to show my PCP, who replicated them and agreed to refer me to a cardiologist.The cardiologist ordered a tilt table test. He was EDS and POTS familiar and was able to diagnose, but didn't really treat it. I'm on a waiting list for another cardiologist who specializes in treating POTS.

For mast cell issues, I'm not sure what the default type of doc is, but most people in my local support groups go to Dr. Lawrence Afrin in NY, a hematologist/oncologist.

 

[GypsyGirl]

I think it really brings home the point (which may be controversial) that there are a number of similar but overlapping diseases that have yet to be fully understood. Are they all pieces of the same disease, or are they a disease that begins as one thing but then morphs into another, or are they several co-morbidities, or are they completely different unrelated illnesses? I don't think anyone knows at this point in time.

I don't know if it's spoken about much about this board, but hypermobility Ehlers Danlos is laden with some of the same political issues that ME/CFS is - emerging illness, changing definitions, unknown conclusion about specific cause, a wide variation in expression. In just 2017, the definitions changed and kicked out some previously hEDS-dx-ed to the less specific joint hypermobility disorder (JHS) or hypermobility spectrum disorder (HSD). But the kicker is - the differentiation between labels doesn't matter much as it stands. My docs have said treatment for connective tissue disorders in the spectrum are the same. Someone with hEDS might have more mild symptoms than someone with JHS. At this point, losing your diagnosis might lead to worse or no treatment for issues that can be watched/managed/given reasonable adaptions & guidance.

The word "hypermobile" in these diagnoses seems a bit misleading. There's a presentation by Heidi Collins for the Ehlers Danlos Society using the catchphrase "if you can't connect the issues, think connective tissues!" Always makes me laugh, but is a good reminder to consider how any connective tissue disorder, defect, or change could trigger systemic stuff. There are over 200 heritable connective tissue disorders, which is wild to me; I can't imagine any one person having a good understanding and differentiation of all that.

 

[GypsyGirl]

I will say that I am on fire about people being given a dx if hEDS is suspected. My rheumatologist actually told me she was not surprised at all about the dx. In fact, she had suspected it and sees it all the time, but there is no need to make a diagnosis bc nothing can be done outside of PT and it doesn't effect anything else. I was told bracing is futile and I just have to live with it.

Yes, I told her she is fired. But, that does not solve the problem. How many more people will suffer because of her careless attitude? I complained about sever disabling joint pain for over ten years, and she refused to do a thing. I have a dx because I took my money and paid out of pocket to see a geneticist. Not all of can do that. I paid out of pocket for my ME specialist. Not all of us can do that either. Not all of us have help to research & find these docs. We need medical professionals who are detectives and are not afraid to make a clinical diagnosis based on findings rather than based on lab tests. There aren't lab test for ME. There isn't a DNA test yet for hEDS. We need family members and friends to be outraged with us because we don't have the energy to fight our own battle & we shouldn't have to worry about being told it's all in our heads.

I feel the same way. My experience has been if I might meet criteria for something (EDS or otherwise), a diagnosis will probably help, however inadequate or inappropriate they may come to be... because they can INFORM treatment even if I don't fit all the way into the box. Get in the box and wiggle, break down a side, punch in air holes, build a bridge to a better box.

I was diagnosed with ME/CFS and hEDS around the same time. (And a bunch of other disorders, many in the co-morbidities folks with ME/CFS and EDS tend to get.) I'm not hypermobile in all my joints (mildly in a few). I didn't have major health issues before several things compounded and "triggered" hEDS. Since then, I've had hEDS-appearing issues in all kinds of ways.

Having these diagnoses (ME/CFS and hEDS, particularly) has helped me find a working medication and supplement regimen, physical therapy, lifestyle adaptations, reputable medical literature to help educate practitioners, etc because I could look up the pros/cons for each of the diagnoses and draw conclusions about what would likely work and what would likely cause complications. Big ol' time-consuming pain the butt! But having some puzzle pieces - however incomplete - helps.

 

[Gingergrrl]

I don't know if it's spoken about much about this board, but hypermobility Ehlers Danlos is laden with some of the same political issues that ME/CFS is - emerging illness, changing definitions, unknown conclusion about specific cause, a wide variation in expression.

I admit that I know almost nothing about hEDS (or the other types of EDS) but I agree with you that all of these illnesses that are poorly understood are laden with these same problems from proper diagnostic tests, changing definitions, unknown treatments, insurance denying off-label treatments, doctors not taking it seriously b/c they never learned about it in medical school, horrible stigma, etc.

Big ol' time-consuming pain the butt! But having some puzzle pieces - however incomplete - helps.

I totally agree. I have four diagnoses at this point and each plays a piece of the puzzle. It's been the most time consuming non-stop research project that I have ever dealt with (and is still not over) but like you said, no matter how incomplete, each little piece of the puzzle helps. We should each wear a bracelet with a different puzzle piece to represent our own little piece of the illness(es).

 

[GypsyGirl]

I admit that I know almost nothing about hEDS (or the other types of EDS) but I agree with you that all of these illnesses that are poorly understood are laden with these same problems from proper diagnostic tests, changing definitions, unknown treatments, insurance denying off-label treatments, doctors not taking it seriously b/c they never learned about it in medical school, horrible stigma, etc.

If you're interested in reading about it, this is a great summation of the 2017 diagnosis category changes. https://alanspanosmd.com/wp-content/uploads/2019/03/3-Why-the-New-EDS-Classification-Matters.pdf

The author, Dr. Alan Spanos, is an internal medicine doctor who's treating exclusively Ehlers Danlos at his clinic. He's been creating a collection of introductory and educational articles on his website for EDS patients AND doctors, very useful.
https://alanspanosmd.com/articles/

Also, he's a doc who has an unusually wide perspective of the medical system and the struggle of patients with "weird", "out of the box" presentations of illness. So you'll probably feel personally validated hearing it whether you have EDS or not - a nice bonus.

I totally agree. I have four diagnoses at this point and each plays a piece of the puzzle. It's been the most time consuming non-stop research project that I have ever dealt with (and is still not over) but like you said, no matter how incomplete, each little piece of the puzzle helps. We should each wear a bracelet with a different puzzle piece to represent our own little piece of the illness(es).

I love your puzzle piece idea.

 

[Gingergrrl]

I love your puzzle piece idea.

Thanks and it was just a random thought but am now wondering if something useful could be done with the idea?! Unless it has already been done before? Often I think of something only to find out it’s already been done a million times before

 

[GypsyGirl]

Thanks and it was just a random thought but am now wondering if something useful could be done with the idea?! Unless it has already been done before? Often I think of something only to find out it’s already been done a million times before

I haven't heard of anything specific regarding puzzles + chronic illness. Bookmark that thought.

 

[Gingergrrl]

I haven't heard of anything specific regarding puzzles + chronic illness. Bookmark that thought.

I actually did bookmark that post b/c otherwise I will never remember! I am now really curious about this idea and it could be an interesting fundraiser for charities (and each illness could have a different puzzle piece, shape & color). I remember multiple doctors telling me that even though I had severe POTS, it was "only one piece of the puzzle" and did not explain my muscle weakness, allergic reactions (and other stuff going on at the time).

 

[Dichotohmy]

I'm diagnosed JHSD - but to split hairs actual believe EDS-classic is more appropriate due to oddly specific signs like subcutaneous sphereoids along my shin and forearm bones, atropic scarring and stretch marks, and quite elastic skin. For me, EDS-C, along with the heavily-related comorbidities like hyper-adrenergic dysautonomia, really does explain everything much better than a CFS/ME diagnosis.

What remains murky, and I have seen this mentioned by EDSers, is how the debilitating symptoms came on fast and hard around my very late 20s to very-early 30s. Essentially, my body fell apart around age 30 with no definitive trigger. There were lots of minor stressors around my age 30, but nothing I had not endured, relatively unscathed, prior to this point.

To me it seems there is valid truth to the idea of collagen-degrading infections, proteinases, and possibly even some genetic "time bomb" that gets activated, perhaps even by an epigenetic mechanism, due to the mysterious effects of non-acute infections, or immune-system activation. So, these things happening around age 30 could just be a coincidence. It just doesn't otherwise make any sense, without a definitive trigger, how I could go from fit as a fiddle to a creaky 85-year old man so quickly.

 

[muddybird]

A small point: You don't have to have pain to have EDS.

 

[sue1234]

I had written this on another thread, but will put it here also:

Regarding the having EDS vs. not having EDS issue, maybe we should classify it as having just a collagen issue. I do NOT have EDS, as I am quite the opposite. I have almost rigid joints compared to EDS. I could never do a back bend as a child, nor could I do a regular cart wheel because my hands did not bend back enough for leverage. I was born with hip dysplasia and by 12, had slight scoliosis. I was finally diagnosed with Multiple Epiphyseal Dysplasia(MED). I only was able to really understand what it was with access to Google decades later. It says it is a problem with the COL9 gene, which obviously is in the same family as the EDS COL3(?). My point being, we have different ways of getting to problems with our collagen, whether genetic variances, illness affecting gene expression, etc. I will be getting myself evaluated for CCI to either rule it in or out as a contributor to my 13-year POTS/CFS illness.

 

[jesse's mom]

Posts about Pradeep Chopra's EDS webinair have been moved to:
https://forums.phoenixrising.me/thr...s-in-managing-pain-w-dr-pradeep-chopra.76761/
​

 

[GlassHouse]

It’s interesting because I have pretty severe hypermobility but am not sure I have CCI or AAI while people with rigid joints have been diagnosed with very unstable neck joints.

I think hEDS is under diagnosed. Dysautonomia is listed as a rare disease, but is it?

I had hEDS and POTS since I was a child but no one ever said there was anything that could be done for either. I did not respond to any POTS medications or compression stockings.

I’ve always just accepted that my normal is for my hips, knees, and ankles to dislocated every time I walk. I’ve just gotten used to popping them back in and then constantly adjusting my weight to try to avoid the weaker side that day.

I’ve got all kinds of braces and have tons of physical therapy exercises, which definitely help but as the dysfunction progresses the PT becomes less effective.

My ribs, pelvis, jaw, and vertebrae also slide out of place as soon as I stand. However I’ve been told that some of my vertebrae are locked up while others are partially dislocated.

I have had constant extreme body wide pain that lasts day and night most of my life. My muscles have become more and more dysfunctional over the years since they must try to hold my body together. In the past 3 years my pelvic muscles have gone into severe spasm from worsening of the hip instability and I can’t go to the bathroom without lots of drugs. My diaphragm also locked into spasm and my organs have become crushed between the dysfunctional diaphragm and pelvic floor, causing 11” of abdominal distention like I’m pregnant. I’m starting a new type of biofeedback to try to fix this. I’m really hoping I can succeed in treating this part!

My skin tears easily and I have bruises on me daily but no idea where they came from and I randomly grow hypertrophic scar tissue when I wasn’t even injured.

MCAS means I break into hives (and really bad intestinal MCAS ) from heat, sunlight, various products, smoke in the air, various foods, etc, and go into anaphylaxis from certain medications. Dr K has managed this for me and without him I’d be dead! He’s a wonderful and caring doctor.

I also have significant intestinal paralysis but only in the small intestine so there are no meds for it (they only treat gastroparesis or colonic paresis).

So many doctors have said many of my issues are due to the EDS but then there’s nothing that can be done for that, which is frustrating.

I have read that researchers found a tryptase mutation in hEDS people that may be the link for hEDS, POTS, and MCAS (which often occur together). Maybe they can develop a drug to counteract the effects of the mutation.

I should also add that my dysautonomia was pretty mild until I had encephalitis. That kicked off a terrible progressive worsening of the dysautonomia and the development of MCAS a few years later.

I think my joints would have still become more painful regardless because many people with hEDS get a lot worse starting in their late 20s.