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

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Are a subset of us members of a lost tribe?

Everyone keeps telling me I have Ehlers-Danlos Syndrome (EDS) even though I don’t meet the criteria. What might this mean for me and for (some) ME patients?
[IMG]https://cdn-images-1.medium.com/fit/c/100/100/1*1yuLH0qLy0TZb9bBcZBGRQ.jpeg[/IMG]

Jennifer Brea
Mar 6

A little over a year and half ago, I received an email from a neurosurgeon who had watched my TED Talk. He has a subspecialty treating patients with Ehlers-Danlos Syndrome (EDS) and shared with me an observation both tantalizing and maddening: “Many of my EDS patients, after a severe infection, develop exactly your symptoms, Jen.” Tantalizing because through my advocacy for Myalgic Encephalomyelitis (ME) and the making of my film, Unrest, I met countless people with EDS, a disease that prior to getting sick I’d never even heard of. Maddening because the last thing I wanted to do at the time was open up a whole other door of potentially overwhelming possibilities.

A lot has happened to me since then. That door threw itself wide open, whether I wanted it to or not. I had my thyroid removed for cancer. That surgery led to a severe worsening of my undiagnosed craniocervical instability (CCI); I suddenly developed central apnea (I’d stop breathing for 15–45 seconds at a time, over and over and over again) and all my neurological symptoms got worse. I got diagnosed with CCI, had a craniocervical fusion to stabilize my neck, and was then diagnosed with a hematoma and tethered cord in my lumbar spine, leading to two more surgeries.

All told, July to January I had five surgeries and was under anesthesia eight times. It’s been hell but it’s also taken me to places I never imagined. In the process, I’ve learned a tremendous amount about the specific, concrete mechanisms and abnormalities underlying my illness. (That’s the thinest silver lining I’ve ever put on a tough experience, but I’ll take what I can get!)
A few weeks ago, I wrote to update the neurosurgeon on my progress (he was not the surgeon who performed my recent craniocervical fusion and tethered cord release surgeries). When I described my initial response to surgery and current symptoms, as well as my new diagnoses, he told me “almost every EDS patient that I have spoken to that has gone through what you have says very similar things.”

“You almost certainly have EDS,” he said.
For the last seven years I’ve been living and fighting with a diagnosis of Myalgic Encephalomyelitis (commonly called, although hopefully that sun is setting, “Chronic Fatigue Syndrome”). That diagnosis was absolutely correct. However, in the last year, I’ve also been told so many times by EDS or EDS-adjacent doctors that I have EDS, it is now being written down regularly on my medical charts or dropped in casual conversation, even though I have never been formally diagnosed.


At first I was annoyed and tried to correct this assumption at every turn. After all, I haven’t had the genetic testing for EDS. I don’t seem to have the symptom profile of any of the 12 types for which there is a genetic test and Hypermobile EDS (hEDS) doesn’t have a gene marker. (Like ME, it is diagnosed clinically, but via criteria comprised primarily of objective signs.) Squint and I look like a lot like people with hEDS, namely because I share so many of the common comorbidities and complications associated with it: craniocervical instability, tethered cord, postural orthostatic tachychardia syndrome and mast cell activation syndrome. The only catch is that other than at my craniocervical junction, that region where skull meets spine, I’m not really hypermobile. I wasn’t hypermobile as a child. Nor am I a “stiff zebra” — a person with hEDS whose joints have stiffened up to try to cope with the instability — inasmuch as prior to surgery, I never had any kind of pain. I don’t meet any of the current, past or proposed diagnostic criteria. And by that I don’t mean that I don’t pass the bar , I don’t even check off any of the boxes. In fact, I am pretty sure I have none of the signs included in any criteria.
I share all this because there are many people in the Myalgic Encephalomyelitis and Chronic Fatigue Syndrome community who are probably in the same boat as me. We meet every diagnostic criteria for ME including the oldest criteria (like Ramsay) and the most comprehensive (like the International Consensus Criteria (ICC)). The majority of us are here in part because we got sick after an infection and post-exertional malaise/neuroimmune exhaustion is one of our most distressing symptoms. However a significant proportion of us probably also have POTS and/or MCAS, co-morbidities so frequently found in the EDS community, they are collectively called the “trifecta.” We may have weird neurological symptoms that do not squarely fit onto any list, and a growing number of us (not without some controversy!) are being diagnosed with craniocervical instability, spinal stenosis or other structural issues — co-morbidites also frequently associated with EDS.
I for one have all reasonable bonafides of an ME diagnosis when it comes to symptoms and lab testing, and was diagnosed by ME specialists. Yet after reading countless journal articles about ME, writing umpteen MEpedia medical and science pages, talking to dozens of doctors and researchers, meeting thousands of patients, and reading more stories of illness and recovery than I can count, I was surprised to find how much of my own case I had managed to miss.
And so I am left with a series of questions with no clear answers that I humbly offer up to ME and EDS researchers and clinicians to help us figure out:

continues at link:

https://medium.com/@jenbrea/are-a-subset-of-us-members-of-a-lost-tribe-ee8942f35577
 
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I think EDS predisposes to POTs and POTs to ME, when you hear people's family history, POTs families have more prevelance of ME.
EDS -> POTs -> ME My theory anyways based on observation,
 

Gingergrrl

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Very interesting article and thank you for sharing it @Murph! And best wishes @JenB if you are reading this.

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.

However a significant proportion of us probably also have POTS and/or MCAS, co-morbidities so frequently found in the EDS community, they are collectively called the “trifecta.”
The more I researched my own case, the more I learned about the very common trifecta of POTS, MCAS, and EDS. Except in my case, I did not have EDS vs. there was some third part of a different trifecta (along with having POTS and MCAS) that was causing me to have muscle weakness and breathing weakness. We now know (in my case) that this third part was an atypical form of LEMS plus a bunch of other rogue autoantibodies.

I for one have all reasonable bonafides of an ME diagnosis when it comes to symptoms and lab testing,
I did not have all of the symptoms of ME/CFS but I definitely met all of the lab testing criteria in 2014 by an ME/CFS specialist. I had off the charts EBV titers on five different EBV tests (including IgM+, and Early Antigen or EA+) even though I'd had mono two years earlier in 2012. The EBV kept re-activating and no one knew why.

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.
 

rel8ted

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This article has also given the trifecta more attention: http://mentalfloss.com/article/87506/one-gene-mutation-links-three-mysterious-debilitating-diseases

Since the beginning of this year, I have been diagnosed with hEDS, then dysautonomia (my neuro wants a full workup before deciding which flavor) and I have had a workup for MCAS. I was told I have all the symptoms of MCAS while I was in the office, labs are done & awaiting results so I can start treatment. Like @Gingergrrl, I also have a neuromuscular issue causing weakness & I have recently had more extensive testing for MG and also for LEMS. I was shocked when the neuro said LEMS, but it made me hopeful that maybe I will be able to recover like Gingergrrl!

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.
 

Gingergrrl

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Since the beginning of this year, I have been diagnosed with hEDS, then dysautonomia (my neuro wants a full workup before deciding which flavor) and I have had a workup for MCAS. I was told I have all the symptoms of MCAS while I was in the office, labs are done & awaiting results so I can start treatment.
It sounds like you have the trifecta ;) ... I know nothing about EDS (or hEDS?) but know way more than my share about the other two :xeyes:

Like @Gingergrrl, I also have a neuromuscular issue causing weakness & I have recently had more extensive testing for MG and also for LEMS. I was shocked when the neuro said LEMS, but it made me hopeful that maybe I will be able to recover like Gingergrrl!
I wish I could say that I was "recovered" but my main doctor still feels I am in "remission" and we truly will not know what happens to me until I stop Rituximab and my next maintenance infusion is on 5/3. I would LOVE to believe that my entire immune system has reset itself and this remission is not being sustained by the Ritux keeping my B cells at zero (stopping the majority of autoantibody production) but that seems like fantasy on my part (as much as I want it to be true)! But time will tell.

How did your doctor diagnose LEMS? (which is not part of the trifecta). I know I have asked you this many times (and cannot remember your answer :xeyes:) but do you test positive for either LEMS autoantibody on one of the Mayo panels (the P/Q or the N-type Calcium Channel Ab) or were you positive for LEMS on an EMG (ideally a single fiber EMG which I did not have) or was it by clinical symptoms? I remember that you had ocular symptoms (which I have never had) and are more common with MG than LEMS.

What is your treatment plan? Would your ME/CFS doctor be guiding it or a Neuro (or someone else)? Feel free to PM me so we don't take this thread off topic from hEDS.

I have a dx because I took my money and paid out of pocket to see a geneticist.
What did seeing the geneticist add to your clinical picture or treatment plan? I have never seen a geneticist and no one else in my family has ever been sick (except my mom, RIP, died of colon cancer so I now have a genetic risk for that) but no one else has ever had any of the medical problems that I have and my dad, sister & niece are in perfect health.

I will be talking to my main doctor tomorrow (phone consult) re: other issues and may ask him what he thinks about seeing a geneticist but I suspect that he would say it would not add anything in my case. Was the geneticist specifically for the hEDS diagnosis? Sorry if stupid question :D
 

rel8ted

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I wish I could say that I was "recovered" but my main doctor still feels I am in "remission"
Remission is the word I should have used. Maybe too optimistic.

How did your doctor diagnose LEMS? (which is not part of the trifecta). I know I have asked you this many times (and cannot remember your answer :xeyes:
I finally found a neuro that took it seriously enough to actually test for it. Waiting on results, but was shocked when she mentioned it. I have some interesting walking issues as of late & was unable to lift something from the table that I thought was odd. I used the other arm to carry it to the food scale & it weighed a whopping 4 lb 11 oz!

What did seeing the geneticist add to your clinical picture or treatment plan?
This was absolutely crucial for me. In one visit, I went from being told everything was all in my head, I need to lose weight, I have conversion disorder/ psychosomatic to being treated like a real human being with an actual problem. I was able to get in pretty quick at www.Atwalclinic.com

There is no genetic test for hEDS yet, and the diagnosis is clinical, but for me worth it. I now have a neuro that believes me, an immunologist that believes me and a referral for an full autonomic workup. My primary care doc is thrilled. He admitted he as not smart enough to know which connective tissue problem I had, but year after year he said he suspected it. We couldn't get the specialists to test for anything:depressed:. Once I had my own money to spend for the geneticist, everything changed.

It's been a whirlwind couple months, but I finally feel like I am on the right track.

What is your treatment plan? Would your ME/CFS doctor be guiding it or a Neuro (or someone else)? Feel free to PM me so we don't take this thread off topic from hEDS.
I will likely use several to keep everything in order. I will PM you when I get back from Dr. Black. It's almost 4 hours & we are getting ready to leave for my appointment tomorrow. I meant to do it already....
 

toyfoof

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Zebra-Corns (not even unicorns)
I love this! We need an emoji.

@rel8ted
Your hEDS story sounds similar to mine. I meet the diagnostic criteria so I have self-diagnosed, but no doctors are interested in talking about it with me. They feel like their hands are full with the CFS. But I’d like the diagnosis noted, if nothing else at least for disability support. And I suspect there are further health implications that are being ignored. But I just don’t know where to go from here. I’m going to look at the link you provided. I’m so happy you are finding real help now!
 

rel8ted

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I love this! We need an emoji.

@rel8ted
Your hEDS story sounds similar to mine. I meet the diagnostic criteria so I have self-diagnosed, but no doctors are interested in talking about it with me. They feel like their hands are full with the CFS. But I’d like the diagnosis noted, if nothing else at least for disability support. And I suspect there are further health implications that are being ignored. But I just don’t know where to go from here. I’m going to look at the link you provided. I’m so happy you are finding real help now!
@toyfoof i PM’d you
 

JenB

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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. Rather, that there are many people in our community who do not meet any EDS criteria, have phenotypes that are distinct from many EDS patients, yet share a lot in common with EDS patients in terms of co-morbidities and complications. It's a call to get clinicians and researchers thinking about the questions I outlined in the piece, which I believe if explored could help us understand more about all of these conditions.

All that said, there are probably many people in this community who would qualify for an hEDS diagnosis. ME/CFS and EDS are not mutually exclusive diagnoses, so if you qualify for both, you qualify for both.

I asked my surgeon when we last spoke (and after writing this piece) point blank, do I have EDS? He essentially said "probably not" but that "I do have some kind of connective tissue disorder. I mean, MCAS is as a connective tissue disorder."

I love that trifecta study. However, I think PEM belongs in what should be a quadrangle and was unfortunately (as ever) forgotten.
 

Gingergrrl

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I mean, MCAS is as a connective tissue disorder."
What did your surgeon mean that "MCAS is a connective tissue disorder"? I had not heard that before and was curious what he meant (if he explained his idea further). Thanks!
 

JenB

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He did not explain. What I interpreted this to mean is that since mast cells are resident in connective tissues, MCAS is a connective tissue disorder. There are some hEDS people (this is a minority view) who believe the MCAS precedes/causes the connective tissue breakdown seen in hEDS.
 

Gingergrrl

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Remission is the word I should have used. Maybe too optimistic.
No worries and I am not really sure what word to use myself! Sometimes I feel that even "remission" is too strong of a word but I cannot come up with a better one.

& was unable to lift something from the table that I thought was odd. I used the other arm to carry it to the food scale & it weighed a whopping 4 lb 11 oz!
This is SO similar to me, you have no idea. My upper body (arms, neck, lungs, diaphragm, etc) all became extremely weak and it was progressive to the point it was terrifying (in 2015). I could no longer turn on the faucets in shower or squeeze shampoo out of the bottle. I had a caregiver 2x/week who would turn on the shower and pre-pour the shampoo & conditioner into dixie cups. I could not cut my food or cut paper w/a scissors.

I honestly think the failed grip strength test and failed spirometry tests were what led to my SSDI being approved on the first attempt without a clear diagnosis (which was good but extremely upsetting for me at the time b/c I wondered if I might just stop breathing and die). Never in my wildest dreams would I have been able to lift something 4 lbs (at that time) and now I can lift my dog who is 14 lbs!

The IVIG & Rituximab completely reversed and eliminated this issue (plus the POTS & MCAS) so I was able to start PT (at the end of 2018) to try to strengthen my muscles from 3.5 yrs of using a wheelchair. But prior to my treatments, I could never have done PT b/c I was not even capable of carrying my water bottle b/c my muscles were so weak. It's almost like another person when I think back on it yet I remember it clearly at the same time.

I forgot, do you also have breathing problems b/c your lungs or diaphragm are weak?

This was absolutely crucial for me. In one visit, I went from being told everything was all in my head, I need to lose weight, I have conversion disorder/ psychosomatic to being treated like a real human being with an actual problem. I was able to get in pretty quick at www.Atwalclinic.com
I know how badly you were dismissed by doctors and I am so beyond thrilled for you that you are now being treated like a human being with a real medical problem. This made my day!

I just bookmarked your link but am confused... did you go to this Atwal Clinic in person or was it a phone or Skype consult?

I now have a neuro that believes me, an immunologist that believes me and a referral for an full autonomic workup.
I am so impressed that you found a Neuro who believes you and I was never able to do this. I saw three neuromuscular specialists in 2016 but none believed me. I had a massive pile of abnormal test results, abnormal autoantibodies, and was already on SSDI but none took my issues seriously. But luckily my main doctor and MCAS doctor both took me 100% seriously and we proceeded w/my treatments without a Neuro.

I will PM you when I get back from Dr. Black. It's almost 4 hours & we are getting ready to leave for my appointment tomorrow. I meant to do it already....
No rush and have a safe trip to see Dr. Black. I look forward to chatting further whenever you have time!

I love this! We need an emoji.
My niece actually came up with "Zebra-Corn" (to describe me) and I now have a stuffed animal zebra-corn (b/c we realized it was a real thing and she did not make it up after all). My stuffed zebra-corn has pink & white stripes and a yellow unicorn horn and she named her "cotton candy" LOL .
 
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Richard7

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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.
 

Gingergrrl

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He did not explain. What I interpreted this to mean is that since mast cells are resident in connective tissues, MCAS is a connective tissue disorder. There are some hEDS people (this is a minority view) who believe the MCAS precedes/causes the connective tissue breakdown seen in hEDS.
Thanks, Jen, and that is interesting and I had not heard that before. I am still trying to fully understand the connection between POTS and MCAS (in someone like me who does not have EDS).
 

toyfoof

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I love that trifecta study. However, I think PEM belongs in what should be a quadrangle and was unfortunately (as ever) forgotten.
I see all this overlap too, and find it intriguing (and frustrating that we patients seem to be doing the work to figure this out).

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 believe I have POTS, but have no formal diagnosis. My ME/CFS doc talks about things that seem POTS-related (eat salt, stay hydrated, check BP frequently, etc) but hasn’t used the word. And MCAS has never entered the conversation, but from what I’ve read I have some symptoms. I’d like to get these ruled in or out if I can but don’t know how to go about asking for that.

I definitely have PEM and this is acknowledged by my doctor!

My niece actually came up with "Zebra-Corn" (to describe me) and I now have a stuffed animal zebra-corn (b/c we realized it was a real thing and she did not make it up after all). My stuffed zebra-corn has pink & white stripes and a yellow unicorn horn and she named her "cotton candy" LOL .
I love it!
 

Diwi9

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I am not DX'd with EDS, only Generalized Hypermobility Spectrum Disorder (HSD) and CCI. However, I've never been properly screened for EDS and like @JenB, doctors keep saying "EDS" to me...but no one has followed up. I can hyper-extend at multiple joints and can pop either of my hips at will...other joints "pop" a lot too...but I don't feel pain when this happens. I have some family history with EDS-related issues that indicate a familial component. Researchers at Stanford are looking at the overlap between hypermobility and ME/CFS and have my DNA. I hope to hear back one day from the resercher with some sort of conclusion. Better yet, we all hear back with a quality publication on the topic.
 

Gingergrrl

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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 believe I have POTS, but have no formal diagnosis. My ME/CFS doc talks about things that seem POTS-related (eat salt, stay hydrated, check BP frequently, etc) but hasn’t used the word. And MCAS has never entered the conversation, but from what I’ve read I have some symptoms. I’d like to get these ruled in or out if I can but don’t know how to go about asking for that.
I was diagnosed w/POTS by a Cardio who was an autonomic specialist. He put me in hospital in 2014 b/c he was trying to determine if I had a traditional cardiac problem in addition to the severe autonomic problems (but I did not). My prior Cardio had diagnosed me w/POTS but felt my case was too complex for her so she referred me to him. He did a Tilt Table Test while I was in the hospital (which was poorly done) but was enough to confirm POTS.

In 2015, I did a one-off consult w/another Cardio who confirmed POTS and then the grand finale, in 2016, I went up to Stanford for a battery of autonomic testing (w/a Neuro) and the TTT confirmed severe POTS and my HR went up 48 bpm as soon as they raised the tilt table and then it continued to rise. I had meds that eliminated the extreme tachy in the 160's and 170's but nothing put it into remission until the IVIG & Rituximab (b/c the POTS was autoimmune in my case).

Re: MCAS, I was incredibly lucky to find an MCAS specialist who is local. He is an allergist/ immunologist who (for reasons that I still don't know!) decided to specialize in MCAS. He will be retiring later this year and not taking new patients but will still see his existing patients part-time. My ME/CFS doctor first diagnosed me with MCAS and put me in the hospital b/c of anaphylaxis in 2015. He did a phone consult w/Dr. Afrin who strongly agreed that it was MCAS and they had the hospital start me on IV Benadryl (which was a temporary plan and did not solve anything long-term). Two months later I found my MCAS specialist who put me onto the right meds but it was the IVIG that put the MCAS into remission at the end of 2016 and it has never returned. The MCAS went into remission almost 2 years before the POTS did in 2018.