Are some of us misdiagnosed? EDS, POTS, MCAS, Mito?

[martiz]

Dear Group:
I have not been here in years so many of you may not know me. I have been active at CFSFM_Experimental Yahoo group and am the current moderator there. I couldn't decide which forum to put this in as I see there is an EDS forum but I wanted this to been seen by those who haven't considered this possible diagnosis.

This is a request for help in a contest to win a mobility van (no purchase required or email solicitation needed) but it is also the seed of a thought that I have been pondering for the last few years. I would like to share my experiences and thoughts and do not intend offense. I hope to bring awareness to ME/CFIDS and EDS/POTS through this post and my contest participation.

This post is very long - sorry!

Since ME/CFIDS is currently a diagnosis of exclusion, the label no longer fits if you are accurately diagnosed. About three years ago, I was diagnosed with EDS-Hypermobility type and a Primary Immune Deficiency- PIDD - Natural Killer Cell Deficiency so I no longer use ME/CFIDS or FMS as my label. Like many of you, I am a poster child for ME/CFIDS, regardless of whose guidelines you use. I don't hide from this label and work it into every conversation I can to point out that some ME/CFIDS and FMS patients may actually fall into one or more of these "rare" disorders.

btw, as you read on, I am NOT saying ME/CFIDS does not exist.

As I spend more time in the EDS and PIDD communities (now going on 3 years), I'm am starting to believe that some of us are in the wrong camp. The list of similarities is so long. For example FMS/ME/CFIDS and EDS patients have lost fingertip definition, have cardiomyopathy, PFO's, PEM, high lactic acid in muscles, migrating joint pain, need joint replacements, have early onset osteoporosis, DDD, scoliosis and other issues like Chiari, stenosis, POTS/dysautonomia/syncope, major gastrointestinal issues including GERD, hiatal hernias, slow motility, gastroparesis, IBS, malabsorption issues, difficulty with barometric pressure changes, intercranial hypertension, migraines, METHYLATION issues, MAST CELL Activation Syndrome, (causing all the allergies, food sensitivities, chemical sensitivities -we call this Multiple Chemical Sensitivities) but it seems to be the same thing from my view point. Sleep apnea, TMJ, nighttime Excessive Heart Rate Variability (the cortisol/adrenaline rushes at night), hypothyroidism, adrenal insufficiency. And everyone talks about brain fog!

Since collagen is EVERYWHERE in your body, EDS is a multi-systemic disorder (just like ME/CFIDS)

I believe that many diagnosed with FMS have Myofascial Pain Syndrome instead or as part of their EDS.

The same goes for the Primary Immune Deficiencies - (by the way, not all EDSers have an immune dysfunction or they do but it's manageable). This subset has chronic viral and/or bacterial infections.

There are 6 main types of EDS but there are many crossover traits.

Then most recently, I have been learning about Mitochondrial disorders and metabolic genetic disorders as a possibility and met someone recently who was a very active ME/CFIDS patients under Dr. Salvato and tracked down her own genetic disorder OTCD. There are over 200 varying mitochrondrial disorders - the ones that get attention are those severe or fatal ones affecting children. But there are many others and varying levels - The phrase..."we are all different but the same" holds true for these groups as well.

My adult geneticist, Dr. Shweeta Dhar, Baylor College Houston has told me that 98-99% of her adult patients have had the ME/CFIDS/FMS label. When that occurs, everyone stops looking. Oh, and they all get told "you're stressed" or "you're a hypochondriac" and given an anti-depressant!

Same story, different day!

I regret that I spent YEARS in the ME/CFIDS camp when I "shoulda/coulda/woulda" kept looking. Actually, I never stopped looking but I never questioned the ME/CFIDS label after the first 5 years because it fit so well.

While there is no cure for EDS - there are so many practical things to help make life better.

While my POTS still gets worse every year, there are things I am doing to help manage it better plus I have been diagnosed with Pelvic Congestion and will have a procedure soon that may help.

While my PIDD goes untreated by a doctor (due to funds and focus), my NK cells have increased (ever so slightly) by taking LDN and BH4. I've got some things in the pipeline to move forward with this

So, I would like to give you hope and encourage you to research these areas and see if possibly your symptoms fit and maybe there is help for you. Finding doctors is difficult but not as difficult as ME/CFIDS docs. It may be harder to get an accurate EDS diagnosis and we all know how easy it is to get slapped with a fibro or chronic fatigue diagnosis, handed a anti-depressant script and sent on our way.

In closing, here are some links to get you started. If you have any questions, please ask them on this forum - my time and energy are limited with all that I have going on and this way everyone benefits from questions. I will try to check in now and then to monitor any questions, thoughts or concerns.

First link - an awareness group to help you find a local support group - online or face to face. They also have GREAT Doctor Speaker series with national top docs. They are supporting me in the mobility contest so scroll past the map and you will see my contest link, my photo and information. Voting continues for the next two weeks so any support would be appreciated. Humbled by the support and outpouring of good wishes. This site has so much great info and videos of Doctors speaking on EDS issues. It would be a good way to learn about the disorder.

http://www.chronicpainpartners.com/

The national EDS site - Latest news is that a new "mayo clinic" style facility is in the works where a patient can come in and get diagnosed all at once - there are many different specialties needed to address all of the issues. Notes from past conferences, brochures to give your doc, videos of doctors at conferences...so much info!

www.ednf.org

There are some great Facebook EDS groups that can help you determine if this is an issue for you. You may want to lurk a while and watch the familiar topics scroll by! If you see elegant_exotics - that's me!

https://www.facebook.com/groups/152615741473177/https://www.facebook.com/groups/2210965239/thas one has an open and a closed version - many guidelines so read pinned post first.and inspire.com's EDNF page is very helpful although difficult to search.

www.inspire.com (and search for EDS or EDNF)
I am martiz there and I have a journal with my thoughts on methylation.

PIDD - www.primaryimmune.org

Sorry again for the very long post...


Wishing you all the best and I hope these insights help someone, someday.

Marti Zavala

Moderator of CFSFM_Experimental

 

[Izola]

Martiz: Thank you. I have often wondered about misdiagnosis, but my abrupt onset of an encephalitis and the post everything crash gives me some comfort. Bleeck! I will study what you have said.

Meanwhile, the following just occurred, for all you with the CFS/ME type diagnostic label:

I just received a call from a woman who said she was with Peer Allies, #1-855-246=1873. She said it was an organization to assist people with their illnesses. She wanted personal information from me. I wouldn't give it to her but asked her a bunch of questions.

I wonder how she got my private telephone number.

She said it was a benefit of insurance a new thing, but she would not give me the insurance companies' names. She said something like "All of them." So I asked "through Obama Care?" She said "No." So I cross examined that poor lady who revealed it was "coaching for certain diseases. . ." She wouldn't tell me which." She said in reference to the insurance cos. "all of them . . ." and rambled about "many."

I then asked her "Well, if so, what is the name of the umbrella organization that coordinates them." That's when she acknowledged my insurance, "Cigna" was involved and the assistance was "COACHING!" "To help you deal with your illness." I told her I was well familiar w/ CBT, GET and threw in "nice" cause that was all I remembered. I explained to her, forcefully, the scam she was involved in and briefly explained it to her. So, beware, they just renamed the abuse. Iz

 

[Izola]

Thank you, Valentijn, helen and Sushi, for your likes. Its nice to get, and especially when your temporarily (hope) experiencing that special level of Hell that ME/CFS can put you in as if the other several levels of Hell weren't enough. But there are also special people who appear in your life like an angel of mercy with a smile and some well needed assistance. So call me with an angel for a few hours and nice likes. Oh, the lady I spoke to was nice and I did tell her I wasn't upset with her but the insurance company(ies). Iz

 

[WillowJ]

@Izola my insurance company had nurses calling to offer support to certain disease like asthma and diabetes, to have them check in with patients and see if they were getting proper medical support from doctors, taking their medicine, knew how to take their medicine, and were getting emotional and secondary depression support if needed.

It is not necessarily a CBT/GET scam, but it also will not be a lot of help for someone who has a problem of "doctors don't actually have a decent treatment plan for me, and they aren't likely to get one this year... self-management does only so much".

 

[justy]

I think that very very many people with M.E have been misdiagnosed. I may well be one of them. Unfortuantely for those in the UK and without significant private funds finding doctors, travelling and testing are impossible.

I have been visiting my GP for 6 years now - trying to get the NHS to investigate my illness.(This time around - I have been ill for nearly 20 years now to varying degrees) So far I have seen an endocrinologist who ran standard tests and then said 'no endocrinological cause can be found'

I saw a gastro specialist who refused to see me again unless I underwent an endoscopy - as I suffered very severe anxiety at the time and could barely leave the house I refused - I was taken off his list.

I have now waited 16 months to see a rheumy - I wondered if I had ANA negative Lupus for a while - my GP thinks I could have some sort of connective tissue disorder - but I don't expect much from my local rural hospital when I finally get an appt.

My eldest daughter has been ill with possible M.E/CFS - she is hypermobile. My eldest son looks classically Marfans and is very 'sensitive' my youngest daughter can easily lick her nose with her tongue - my youngest son can touch his thumb backwards to his wrist and appears to suffer from more exhaustion than is normal for a boy his age and fitness.

I have tried explaining this to GP's etc, but it gets me no where - I myself am not hypermobile - although I have always been able to put my hands on the floor without bending my legs - even after years of being ill and doing no yoga or stretching.

I have no idea in the UK how to go about investigating this - I hit a brick wall everywhere I go.
Anyone else in the UK got any ideas?

Also to complicate things I live in Wales and my GP won't send me to England for anything as our health systems are now different - also we cannot choose where we go for consultants like in England.

Sorry for the long post - thanks for highlighting this issue again.
Justy

 

[Izola]

I think that very very many people with M.E have been misdiagnosed. I may well be one of them. Unfortuantely for those in the UK and without significant private funds finding doctors, travelling and testing are impossible.

* * *

I have tried explaining this to GP's etc, but it gets me no where - I myself am not hypermobile - although I have always been able to put my hands on the floor without bending my legs - even after years of being ill and doing no yoga or stretching.

I have no idea in the UK how to go about investigating this - I hit a brick wall everywhere I go.
Anyone else in the UK got any ideas?

Also to complicate things I live in Wales and my GP won't send me to England for anything as our health systems are now different - also we cannot choose where we go for consultants like in England.

Sorry for the long post - thanks for highlighting this issue again.
Justy

Hi Justy: I do hear a lot about the difficulty of getting a diagnosis in the UK for these illnesses (which all seem connected in different ways.) Sounds like you have an overwhelming situation. I feel so bad about the medical situation in U,K. and yours -- so complex.

Cort, on Health Rising, sends out email reviews of his articles, interviews, etc. each week, or so, and if my memory is serving me at all right now, he has a new article on diagnoses. I wouldn't think that many doctors know about Marfans, but that's my hunch. I read some of Martiz's illness. It sounds really complex. And there are different levels I think she said. (I tried to vote for her and got disconnected I'm not real good w/ online things because I was too ill for the computer for a very long time and things have changed and my brain is much smaller.)

The Canadian ME Expert Doctor, (lost name in my brain for now) has a chapter on Marfans in his medical book on ME and CFS (abt 1994) and they wondered about its relationship to M.E. & CFS. From the information about you and family members it sounds like you can stretch more than usual. You should read Martiz' stuff. I didn't get far but its packed with facts, Well. dumb me. You have.

I wish I could email you a doctor. Mine isn't up on everything but she gives me the basics for which I am grateful. She even let me guide her through some treatments long ago. Now my POTS is so bad I have the IQ of a frog by the time I get into her office and even with my list I can't enunciate or even remember the particulars I wanted to discuss. I'm going to reread your post tomorrow. Maybe with sleep I can regenerate some brain cells. Take care. I'll be back tomorrow. Iz

 

[Izola]

Thank you, Kina You all made my day & night!! And Justy, thank you too, for your like.

 

[ahimsa]

I think it's good to look into various illnesses. To me, the main goal would be to try to find treatments that make the patient feel better. A secondary goal may be to get evidence for disability insurance benefits. After all, if a patient is too sick to work then they need financial assistance for food, rent, etc! But without the right tests it can be hard to prove the problem.

So, yes, accurate testing and diagnosis is a good thing. But I do have some questions.

Since ME/CFIDS is currently a diagnosis of exclusion, the label no longer fits if you are accurately diagnosed.

Is EDS considered an exclusionary diagnosis for ME/CFS? As opposed to a comorbid diagnosis? I've never seen that stated anywhere. In fact, some patients on the forums have mentioned that they have both ME/CFS and EDS diagnoses.

Is POTS (or any type of Orthostatic Intolerance, e.g., NMH/NCS) considered an exclusionary diagnosis for ME/CFS?

I have definitely seen autonomic dysfunction (don't remember the exact wording) listed in some of the diagnostic criteria for ME/CFS. I have never seen a statement that if a patient has POTS or NMH then they don't can't have ME/CFS. [Edited for clarity]

There are lots of other illnesses that overlap with an ME/CFS diagnosis. I have some of them (e.g., NMH, endometriosis). I thought most doctors saw it as sort of a Venn diagram.

I'm not sure I understand the advantage of framing these illnesses as either/or when a lot of them overlap. But maybe I'm missing something.

I do understand the idea of looking for common underlying causes (e.g., collegen defects, autoimmune problems, genetic markers, various kinds of infections) that may contribute to multiple illnesses. But does that mean that a diagnosis of EDS means the ME/CFS diagnosis is invalid?

I also understand the idea of not mentioning ME or CFS in certain contexts. There is a huge amount of ignorance and stigma associated with both of those diagnoses! If a doctor simply prescribes antidepressants and ignores the current scientific studies then that doctor is not doing his/her job. At a minimum I'd say to leave that doctor and never return. Even better, the doctor should be reported to the appropriate authorities for such behavior. But that's a whole 'nother ball of wax.

 

[SOC]

Is EDS considered an exclusionary diagnosis for ME/CFS? As opposed to a comorbid diagnosis? I've never seen that stated anywhere. In fact, some patients on the forums have mentioned that they have both ME/CFS and EDS diagnoses.

Is POTS (or any type of Orthostatic Intolerance, e.g., NMH/NCS) considered an exclusionary diagnosis for ME/CFS?

I have definitely seen autonomic dysfunction (don't remember the exact wording) listed in some of the diagnostic criteria for ME/CFS. I have never seen a statement that if a patient has POTS or NMH then they don't have ME/CFS.

There are lots of other illnesses that overlap with an ME/CFS diagnosis. I have some of them (e.g., NMH, endometriosis). I thought most doctors saw it as sort of a Venn diagram.

I believe most exclusionary conditions are only exclusionary IF the condition is treated and the symptoms related to ME/CFS disappear.

For example, if an ME/CFS patient is diagnosed with OI, is treated for OI and all ME/CFS symptoms disappear, then they did not have ME/CFS. They had primary OI or OI related to some other cause, not ME/CFS. On the other hand, if the PWME is treated for OI and the symptoms related to OI improve, but ME/CFS symptoms remain, then they have comorbid ME/CFS and OI.

The same is true for depression. PWME can have comorbid depression, but it's also possible (likely) that people with only untreated or poorly treated depression are misdiagnosed as having ME/CFS.

My feeling is that if a patient doesn't have true PEM (as opposed to exercise intolerance or the symptom chronic fatigue), it is likely they have a condition other than ME/CFS and have been misdiagnosed. As far as we know so far, no other condition has PEM as measured by a 2-day CPET, so if you have PEM the only current valid diagnosis is ME/CFS regardless of other comorbid conditions.

We can argue until the cows come home whether ME/CFS (as distinguished by PEM) is a single condition or a multitude of conditions, and whether there is a single cause or many. That is a different issue and is a discussion for another time and thread.

 

[ahimsa]

I believe most exclusionary conditions are only exclusionary IF the condition is treated and the symptoms related to ME/CFS disappear.

Thanks for the response, @SOC ! All that you said makes sense.

My question was more directed to original poster but I appreciate your comments.

For me, all these diagnostic labels are only useful if and only if the diagnostic label leads to an effective treatment. Or at least a way to avoid symptoms (e.g., changes based on an understanding of what is causing the problems, such as avoiding standing and heat when you have Orthostatic Intolerance).

Otherwise, it's all just words.

 

[PattyPlum]

I think autonomic dysfunction causes symptoms of ME. Something triggers it whether it's a virus, surgery or something else. I believed I had ME for years after Glandular Fever. I had all the symptoms listed. It took 8 years to get it diagnosed.

Move on 23 years and then I developed POTS and severe neuropathic pain. I started to look into triggers and links and this led to the POTS diagnosis and EDS. Things got worse with the IBS and I started to suspect Mast Cell Activation Disorder. All of these conditions are linked.