Re: Ehlers-Danlos Syndrome - EDS was: Workup for POTS and/or Orthostatic Intolerance

[Guest guest]

I'm so happy to hear that you have a diagnosis finally. I've followed

your progress for some years now, and it must be a great relief to know

the real reason, and to be able to adjust your life to it. Just knowing

you are helped by wearing braces at times is a huge improvement.

Thanks for writing this helpful descriptiion

Jill

On 7/3/2012 8:35 AM, marti_zavala wrote:

>

> Hello group,

> I have been researching my little brain to death! I am updating my

> " report " after seeing an electrophysiologist in Dallas in early April.

> I have been doing what he asked of me and have been feeling so much

> better – the midodrine is helping.

>

> But in addition to that – I have been pursuing the Ehlers-Danlos

> Syndrome diagnosis and I feel compelled to let you know about possible

> mis-diagnosis.

[Guest guest]

Marti,

That was interesting, thank you. I have had a list of a hundred or

more diseases that might be relevant. I added to it over the years.

I recently got to the point after 4 decades that most of them are

unlikely to explain the disease presentations that we are talking

about. CVID and PIDD and mast cell are perhaps the most

likely-seeming ones on the list.

I have been diagnosed with EDS type 3 (thumb goes out of joint, etc.)

but I was unaware that it could account for that many things.

That is the critical thing. There are thousands of explanations, but

only a few that explain all of the facts. Explaining all of the facts

is necessary. (Explained in #2 here, 's Law:

http://thekafkapandemic.blogspot.com/2012/01/three-things-people-dont-know.html

and the related posts

http://thekafkapandemic.blogspot.com/2012/03/characterization-and-unaware-mild.h\

tml

and http://thekafkapandemic.blogspot.com/2012/01/more-you-than-you.html

..)

Therefore, we can throw most explanations out the window.

My question for you is, could EDS and its related diseases plausibly

account for all of the signs and symptoms in the ICC? Not just the

Chinese menu criteria (you have this many of this, this many of that)

but in principle could a person with EDS have every single thing

mentioned in ICC?

That is something we should all pay attention to if true. And how

come scientists and physicians almost never, ever mention these

things?

If EDS can account for all of ICC, then how do you get somebody to

evaluate a person who is bedridden (possibly especially for vascular

type)?

Can we presume in any way that EDS is not responsible for Incline

Village and other outbreaks? Is it gradual or staged onset?

Thanks.

--

The Kafka Pandemic: http://thekafkapandemic.blogspot.com

[Guest guest]

Hi ,

Wow, that was a good read - thanks for the links.

I have been pondering and researching; trying on and taking off this new

diagnosis for the past three months.

I am not sure that I have the mental capacity to think through your questions

and come up with insightful answers. I am open to your opinion as someone who

has this possible diagnosis to consider.

Your questions:

My question for you is, could EDS and its related diseases plausibly

> account for all of the signs and symptoms in the ICC? Not just the

> Chinese menu criteria (you have this many of this, this many of that)

> but in principle could a person with EDS have every single thing

> mentioned in ICC?

***Yes, I believe so and many more. Since collagen is found in all parts of the

body, faulty collagen would alter the function of organs, would create pain all

across the body - essentially all body systems could potentially be affected.

This would also answer the questions regarding differing symptoms and severity

between patients - according to the EDS world - even related family members can

have different symptoms and/or severity. The same verbage that we use here is

used in that world: " We are all different. What works for me may not work for

you. Your mileage may vary. "

> That is something we should all pay attention to if true. And how

> come scientists and physicians almost never, ever mention these

> things?

>

> If EDS can account for all of ICC, then how do you get somebody to

> evaluate a person who is bedridden (possibly especially for vascular

> type)?

***My understanding is that EDS was previous known as Benign Joint Hypermobility

Syndrome which is somewhat still in use. Until 3-5 years ago, according to the

geneticist that I saw - BJHS was considered a novelty - you could do parlor

tricks. It has only been recently that they have discovered that the faulty

collagen was found in blood vessels, organs, etc and created symptoms ranging

from mild to severe.

But I don't think that EDS can account for the chronic infections. Most EDSers

do not understand what I am talking about when I say " sore throat, low grade

fever, swollen glands, flu-ish, achy feeling " and when I put that description

with exertion - they look at me like I am crazy - even the Adult Geneticist! So,

I haven't figured that part out yet.

Getting evaluated (bedridden/housebound or not) can be done by ANY doctor

familiar with connective tissue disorders (of which EDS is only one). My

Cardiologist/electrophysiologist diagnosed me and the Adult Geneticist confirmed

it. But you could potentially see an Adult Geneticist who is not familiar with

the physical manifestations of connective tissue disorders. Same goes for

rheumatologists. Best thing to do is find a support group or forum and find out

who the local EDS expert is and save time and money. The top EDS geneticist is

Dr. Francomano in Baltimore. I plan on seeing her next year even though

I have a diagnosis as she is well-versed in Craniocervical instability,

Chiari/EDS and Chiari like symptoms (Dr. Frasier ), and Mast Cell

issues. I am also hoping she can point me to a gastro EDS expert (like Dr.

e at s Hopkins).

My local Adult Geneticist is good but still learning.

All patients diagnosed with EDS of any kind should have a full cardiovascular

workup similar to the one I had with Dr. Suleman (see previous post) because the

types do overlap. Someone with mild joint hypermobility should be checked for

the common vascular problems. Patient history, family history and clinical

presentation play a part in proper diagnosis but the vascular genetic test is

the most accurate.

> Can we presume in any way that EDS is not responsible for Incline

> Village and other outbreaks? Is it gradual or staged onset?

>

***Yes, I would say that EDS would not be responsible for Incline Village or

other outbreaks. The funny thing about gradual vs. sudden onset is that in the

EDS world, they use the same terminology. I didn't understand it at first as

how can you have sudden onset of a genetic disorder! But the more I read, the

more I understood and it actually applied to me! Not everyone who is

hypermobile has EDS and some with EDS are very asymptomatic. I believe I was

one of those people - a little hypermobile but asymptomatic. Then an injury of

my neck -severe whiplash - changed the way my nervous system handled pain AND

blood flow and CSF flow between my head and body was changed which caused

dysautonomia, etc. Once those muscles/tendons/ligaments were stretched, the

faulty collagen prevented proper healing. It seems that the EDS world speaks of

triggers - the SAME triggers we talk about - a difficult pregnancy, trauma,

injury, surgery!

I think something else is causing the immune dysfunction and perhaps it is CVID

or PIDD. Still working on that and I doubt I will have answers anytime soon.

Some EDSers do complain about sickness after exertion but very, very few (based

on 3 months on various forums - not long enough to know for sure).

So, I feel that EDS is causing most of my issues except for the immune

dysfunction.

Symptoms that I have researched and that I relate to EDS: joint pain, muscle

pain, POTS, hypotension, balance issues, gut dysmotility, chronic constipation,

post exertional malaise (the old one - PEM), fatigue (should have been first on

the list!), scoliosis, weakness in hands and arms, leaky gut,hiatal

hernia/ulcers, easy bruising, mitral valve prolapse, osteopenia, peripheral

neuropathy/autonomic dysfunction. Then because of an injury that didn't heal

right because of the faulty collagen - craniocervical instability/chiari like

issues, neck pain, lordosis of the cervical and lumbar area. Some of these were

confirmed by the EP and/or the Adult Geneticist.

There are some symptoms that I do not have that many EDSers relate to: sleep

apnea (loose, lax muscles in mouth/throat), ringing in ears, difficulty with

swallowing, vision disturbances, dislocations, skin hyperextensibility, poor

wound healing, tissue fragility, scarring, anesthesia issues, especially to

lidocaine - wears off too quickly, not effective as well as other anesthesias

(sound familiar?), and worse of all: spontaneous arterial, intestinal, tendon,

muscle, or uterine rupture.

Symptoms that I feel MIGHT be caused by EDS but I have yet to do the proper

research or get confirmation: pelvic congestion which contributes to POTS, Mast

cell activation disorder or a similar disorder explaining chronic urticaria and

chronic inflammation. Possibly explaining low NK cell count (never had function

done)

The symptoms that DO NOT seem to be EDS related or I haven't researched it

enough to know for sure - immune dysfunction and the new PENE, chronic

pancreatitis/pancreatic insufficiency, methylation issues C677T +- and A1298C

+-. Perhaps these genetic issues separate me from EDSers who do not experience

chronic infections.

I am sure that I am missing a few symptoms.

Hope that helps clarify my thoughts. I am interested in your take on this.

By the way, some EDSers are able to run marathons with the proper support and

some have J and G tubes! Even if they have the same type! Very similar to your

mild/severe points on the links you sent.

I guess what I am hoping is that someone here will recognize themselves and get

evaluated and possibly get help for untreated symptoms. Also, to reduce the wear

and tear on joints (if hypermobile) as joint damage in youth translates to

increased pain in adulthood. Or if vascular, that they would get evaluated for

the aortic dissection issues and possible organ ruptures and manage that

properly. If it turns out that they don't have ME/CFIDS, then fine. Either way,

EDS issues can be managed and most of us are already doing some of these things

but some issues are completely ignored by the ME/CFIDS specialists (for example

gastroparesis or craniocervical instability. Just wearing braces has been

helpful and any increase in functionality is welcome.)

Marti

>

> Marti,

>

> That was interesting, thank you. I have had a list of a hundred or

> more diseases that might be relevant. I added to it over the years.

> I recently got to the point after 4 decades that most of them are

> unlikely to explain the disease presentations that we are talking

> about. CVID and PIDD and mast cell are perhaps the most

> likely-seeming ones on the list.

>

> I have been diagnosed with EDS type 3 (thumb goes out of joint, etc.)

> but I was unaware that it could account for that many things.

>

> That is the critical thing. There are thousands of explanations, but

> only a few that explain all of the facts. Explaining all of the facts

> is necessary. (Explained in #2 here, 's Law:

>

http://thekafkapandemic.blogspot.com/2012/01/three-things-people-dont-know.html

> and the related posts

>

http://thekafkapandemic.blogspot.com/2012/03/characterization-and-unaware-mild.h\

tml

> and http://thekafkapandemic.blogspot.com/2012/01/more-you-than-you.html

> .)

>

> Therefore, we can throw most explanations out the window.

>

> My question for you is, could EDS and its related diseases plausibly

> account for all of the signs and symptoms in the ICC? Not just the

> Chinese menu criteria (you have this many of this, this many of that)

> but in principle could a person with EDS have every single thing

> mentioned in ICC?

>

> That is something we should all pay attention to if true. And how

> come scientists and physicians almost never, ever mention these

> things?

>

> If EDS can account for all of ICC, then how do you get somebody to

> evaluate a person who is bedridden (possibly especially for vascular

> type)?

>

> Can we presume in any way that EDS is not responsible for Incline

> Village and other outbreaks? Is it gradual or staged onset?

>

> Thanks.

>

>

>

> --

> The Kafka Pandemic: http://thekafkapandemic.blogspot.com

>

[Guest guest]

I have questions re: Common Variable Immune Dysfunction and this is the best

response I got:

" You can read more about Common Variable Immune Deficiency in this document that

explains the condition, how it's diagnosed and how it is treated:

http://www.ncbi.nlm.nih.gov/books/NBK1299/

This site has a list of doctors who diagnose and/or treat CVID in the Houston

area:

http://www.lifescript.com/doctor-directory/condition/c-common-variable-immu

nodeficiency-tx-houston.aspx

The condition is genetic. Part of the diagnosis is by checking immunoglobulin

levels, though CVID is mostly a diagnosis of exclusion (like both Chronic

Fatigue Syndrome and Fibromyalgia). Individuals with this condition often have

demonstrated or tests have shown that vaccinations have not been effective.

Treatment is by treating infections appropriately and immunoglobulin therapy

(check your insurance as it needs to be done life long and is rarely covered

despite $10,000/monthly injection average). GI issues are commonly found in this

condition just as they are in EDS.

and

" No, CVID is not a part of EDS. They are both genetic conditions, but where each

genetic mutation is located on the DNA strand is two completely different areas.

However, having EDS does not protect anyone from having other illnesses,

injuries, or genetic conditions. "

____________________

So, this would mean that I have EDS and something else that is causing an immune

dysfunction. By pursuing CVID, PIDD, MCAD, perhaps I can get some help in that

area.

For now, I guess I could call it ME/CFDIS but officially, when I see a new doc -

I will not put that on my record because otherwise I will not get any help at

all. I have been thrown out of several infectious disease and immunologist

offices and I have no desire to go through that again.

I am going to attack it as if ME/CFIDS and FMS were mis-diagnosed and see how

far that gets me.

Any advice on the immune side - I just take my valtrex each day until I can get

help in this area.

Marti

>

> Hi ,

> Wow, that was a good read - thanks for the links.

>

> I have been pondering and researching; trying on and taking off this new

diagnosis for the past three months.

>

> I am not sure that I have the mental capacity to think through your questions

and come up with insightful answers. I am open to your opinion as someone who

has this possible diagnosis to consider.

>

[Guest guest]

Sorry - the sentence below should have read:

" I have questions re: Common Variable Immune Dysfunction " on an EDS forum " and

this is the best response I got:

Also, I was sent this link to a group that ties Autonomic Dysfunction

(such as POTS, NMH, NCS), Mast Cell Disorders (such as Mastocytosis, MCAS) and

Hereditary Connective Tissue Disorder (such as EDS, Marfan's) in order to

determine the connection and determine proper testing and (treatment, I

suppose).

I have not joined it yet - just passing it on.

http://uk./group/theelephantproject/?prop=eupdate

Marti

>

> I have questions re: Common Variable Immune Dysfunction and this is the best

response I got:

>

> " You can read more about Common Variable Immune Deficiency in this document

that explains the condition, how it's diagnosed and how it is treated:

http://www.ncbi.nlm.nih.gov/books/NBK1299/

>

> This site has a list of doctors who diagnose and/or treat CVID in the Houston

area:

http://www.lifescript.com/doctor-directory/condition/c-common-variable-immu

nodeficiency-tx-houston.aspx

[Guest guest]

Marty, have you found any references to fingerprint loss in the Ehlers-Danlos

literature or from other patients? I tried googling about this when you first

posted about your diagnosis and I only found references to fingerprint loss and

ED in articles about CFS not in any ED articles. I didnt check PubMed or any of

those kind of databases though.

Beverly

[Guest guest]

Hi there,

No, I have not seen mention of that except where it applies to swelling and

eczema type issues in winter. But not the fingerprint loss that ME/CFIDS has.

It may be more of an issue in the Classical and I don't spend time in that part

of the forum.

The other thing I haven't seen mention is Multiple Chemical Sensitivities. My

son reminded me of that today. I haven't seen people talk about that yet.

Marti

>

> Marty, have you found any references to fingerprint loss in the Ehlers-Danlos

literature or from other patients? I tried googling about this when you first

posted about your diagnosis and I only found references to fingerprint loss and

ED in articles about CFS not in any ED articles. I didnt check PubMed or any of

those kind of databases though.

> Beverly

>

>

>

[Guest guest]

I missed the original post. I have MANY if not all of the symptoms of

Ehlers-Danos - have had hypermobility always. I have a few questions that I

don't know if were covered in the original post so please excuse my questions:

1) What kind of doctor diagnoses this. Where do you find them? Is is any

cardiologist?

2) What is the treatment, if I suspect I have it now - just to take collagen? I

always like to try to treat symptoms first, see if it helps, before going to a

doctor.

Thanks!! 

 

Kaimowitz

Script Supervisor & Instructor 

917-622-4460

________________________________

From: Beverly <bevbh@...>

Sent: Tuesday, July 3, 2012 8:29 PM

Subject: Re: Ehlers-Danlos Syndrome - EDS was: Workup for

POTS and/or Orthostatic Intolerance

 

Marty, have you found any references to fingerprint loss in the Ehlers-Danlos

literature or from other patients? I tried googling about this when you first

posted about your diagnosis and I only found references to fingerprint loss and

ED in articles about CFS not in any ED articles. I didnt check PubMed or any of

those kind of databases though.

Beverly