hi everyone

[Guest guest]

Sally, the best explanation is one from Maggie Buckley in terms of symptoms;

EHLERS-DANLOS SYNDROME - Diagnosis Explained in Lay

By

Maggie Buckley

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Currently, there are not any DNA tests or blood tests available for EDS

diagnostics. These types of tests are in the early research phases and have

not been found to be reliably accurate compared to the clinical presentation

of symptoms. Researchers believe (and I hope) that these test will be

available for Classical EDS within the next five years. The tests for

Hypermobility type EDS are a couple of years beyond that.

The skin biopsy will confirm or rule out the Vascular type, but it is not

the sole (or gold standard) method of diagnosing this type.

The symptoms of Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis types of

EDS are so profound that these types of EDS are usually diagnosed in early

childhood if not infancy. A urine test is available to confirm or rule out

the Kyphoscoliosis type. Skin biopsies are used to confirm or rule out the

Arthrochalasia and Dermatosparaxis types of EDS.

Diagnosing EDS and differentiating between types is not a precise science.

The doctor doing the evaluation has to look at all of your symptoms and

compare them to the major and minor diagnostic criteria of the different EDS

types as well as other diseases and disorders. Bear with me here and I will

try to explain it in simple terms. (For those of you familiar with it, here

comes the " poker chip analogy. " )

First of all, keep in mind that EDS is a " Syndrome " or a group of disorders

that share a core group of symptoms. The core group of symptoms of EDS

include joint hypermobility, skin hyperextensibility, vessel fragility, and

organ fragility. Each of us with a diagnosis of EDS displays these symptoms

to some degree of another with a range of severity. Keep an open mind here.

I can hear some of you saying " I don't have loose joints, " or

" hyperextensible skin " or " fragile vessels or organs. " Trust me, most of us

are unaware of the subtle differences between " normal " range of motion in

joints and " hypermobility " in joints. It is part of the learning process we

go through as we accept the diagnosis and build up our armory of coping

mechanisms.

Imagine if you will that the doctor has 7 different colors of poker chips in

two different sizes. The different colors represent the 6 different types of

EDS and one " non-EDS " category. The doctor will pore through your medical

history, family history, and clinical records and compare that information

with the major diagnostic criteria (large poker chips) and minor diagnostic

criteria (small poker chips) as presented in the 1997 Ville Franche

Nosology. (The most recent Nosology, or description of EDS.)

The point where most people get confused is that there is not a clearly

drawn heavy black line of the types. In fact some symptoms appear in more

than one type of EDS. So, while the doctor will give you a large green chip

for hypermobility of the fingers to represent it as a major of the

hypermobility Type of EDS, you will also be given a small blue chip for this

symptom as a minor diagnostic criteria of the vascular type, and a large red

chip as a major diagnostic criteria of the classical type. Similarly, for

easy bruising, you will get a small red, a small green, and a large blue.

Since we have a shared set of core symptoms (think " Syndrome " ) we will all

have symptoms of more than one type of EDS. Thus, we will each receive poker

chips of more than one color.

The doctor must laboriously go through all of the criteria and the details

of your medical records doling out these poker chips. At the end of the

process the poker chips are tallied by quantity and/or weight per color. The

pile that is largest is the diagnostic " label " that you are given as far as

which type of EDS you have. NOBODY with a diagnosis of EDS fits neatly into

a single Type's description. Yet, everybody with a particular type of EDS

has a distinct type of EDS distinguished from the other types. There is no

such thing as having more than one type or " overlapping " types or one type

with an " overlay " of another type. When a doctor uses the words " overlap " or

" overlay " in describing an EDS diagnosis they are simply trying to

communicate the " Syndrome " characteristic of EDS.

It is possible to have Classical EDS and not have widened atrophic scars,

for example. It is also possible to have Hypermobility EDS and to have

widened atrophic scars, pseudotumors, organ ruptures, recessive gums, and/or

muscle hypotonia.

With the way that EDS research has gone for the last 100 years and how it is

headed, I believe that we will see more accurate diagnostic criteria which

leads to some types being " spun off " as distinct disorders of their own and

other types being combined into a single type. Keep in mind that we also

share many symptoms that are considered to be major or minor diagnostic

criteria for Marfan Syndrome, Lupus, Scleroderma, Diabetes, Osteogenesis

Imperfecta, and lots of other even more rare things.

So, after all that there are two questions that are most often raised:

1. How can the doctors treat me if they don't know what type I have?

Each EDS affected individual needs to have an individualized treatment

program developed which addresses the severity of their particular symptoms.

For example, a responsible physician will consider a diagnosis of any type

of EDS as enough of a risk to require extra precautions in surgery for any

eventuality of rupture or tissue fragility. Yet that approach will be

tempered by a conservative treatment approach that seeks to do no further

damage or harm.

2. Is it absolutely necessary to pursue a diagnosis by type?

As humans we all seek to classify and categorize everything in our lives in

order to understand it. Typing of EDS is a personal choice, it is not

mandatory. Typing of EDS can affect your insurability status both favorably

or negatively. All of the ramifications of the decision should be

considered. Will typing save your life? Maybe. Will typing define a

treatment plan more clearly for you? Maybe. Will it change what is in your

heart or what you are passionate about? Most likely not. Will it change who

you are? Only if you choose to change as a result of getting a type or not

getting a type.

From the author:

My name is Maggie Buckley and I have Hypermobility Type EDS. I live in

California, am married, no children, formerly worked as a Business Manager &

Controller for a Photo Lab. My training is in Social Work, Business and

Accounting - no formal medical training. I was diagnosed with EDS when I was

13 years old by a doctor who had it - merely coincidence that he was the

Orthopedist on call when I went to the ER with some dislocations. Thus, for

25 years I have been studying EDS and have done what I can to stay current

with what is going on as far as EDS research.

[Guest guest]

Many thanks for the info, it makes understanding the diagnostic procedure

much easier.

Take care

Sally

[Guest guest]

Hi ,

Thanks very much for your message, sorry to hear that your daughter also has

these problems.

Elliott has been tested for Coeliac disease but this has come back negative

as have all the food allergy testings. The docs have said, however, that

blood tests are not always very accurate for food allergies because if the

allergen is not in the system at the time of testing then a negative result

could occur.

Anyway we are going back to Great Ormond Street Hospital in London next week

to see the gastro docs (we have been waiting since September!!) When I see

them I will explain about the EDS which should by then be in his notes and

see if they make a connection.

Does your daughter suffer with constipation and have you had the tummy pains

investigated? Elliott suffers terribly and constipation and takes senna and

lactulose daily which we have been advised to wean him off. This coupled

with the eosionphills they found in his stomach point ot eosionphillic

colitis which was confirmed by a colonoscopy op. Anyway we should get some

answers next week - hopefully!

Take care, hope your daughter keeps as well as possible. Look forward to

hearing from you again.

Sally

[Guest guest]

Hi Sally My name is , I have a daughter that was just dignosed with

EDS they just don't what type yet.

My daughter is nine she has stomach pain all the time she always saying that

her tummy hurts.

She also gets alot of head aches. I hope that you are okay and your son and

family too. write any time.

Hi everyone

> After countless tests my 5 year old son Elliott has been diagnosed with

EDS

> hypermobility type.

>

> At first they said it was hypermobility syndrome, but then changed it to

EDS

> and still some docs still only refer to it as hypermobility syndrome. I

am

> very confused because he has all the skin problems of EDS, i.e. delayed

> healing, excessive elasticity, multiple scarring and bruising and gets

> absolutely no relief from anaesethic creams. He also has extremely

> hypermobile joints which is causing him to suffer from terrible back and

neck

> pain, plus pain in his legs some days which is so bad that he is unable to

> walk. On top of this he has a heart murmur and a marfan skeletal shape,

that

> is long fingers and long toes with flat feet.

>

> There are so many types of EDS and the symptoms seem very similar. They

have

> definitely confirmed it is the 'hypermobile type', but to me he seems to

have

> overtones of some of the others. Additionally he suffers from bad stomach

> pains which the docs have told me is esionphillic colitis but I understand

> some people also suffer with stomach and bowel problems (he has terrible

> constipation) as a result of EDS.

>

> I read on one website that you only have one type of EDS, and yet from

> reading some of your messages you also seem to experience symptoms of many

> types of EDS.

>

> So as you can see I am very confused, any help would be greatly

appreciated.

> We live in the UK and find it difficult to find a discussion group

locally.

>

> Thanks for taking the time to read this. Take care !

>

> Sally

>

>

>

[Guest guest]

Can someone send me the info about the EDS conferance this year. I'm

thinking about going.

What happens at one? Is it seminars and are they in layperson terms. Did I

read something about being seen by doctors who have worked with lots of

folks with EDS?

I wasn't thinking about it but I think my parents will help us get there?

thank you,

Jean

[Guest guest]

Hi Sally its , My daughter does suffer with tummy pains all the time

she calls it a sore stomach, she does have constipation but not all the

time. We think it might be from her pore posture.

She has a very sway back, and her shoulders and and hips are out of line.

Petra spends alot of her days not feeling

well. she looks pale and has dark circles under eyes by the end of the day

she looks wiped out.

I do hope that you get answers for your son because that seems to be the

most painful. Its not knowing that hurts.

I just don't know how to help her some days. Its like she just has to live

this way which seems unfair.

Any way wwe go back to Sick Kids in Toronto, Canada. In April.

Call again.

Re: Hi everyone

> Hi ,

>

> Thanks very much for your message, sorry to hear that your daughter also

has

> these problems.

>

> Elliott has been tested for Coeliac disease but this has come back

negative

> as have all the food allergy testings. The docs have said, however, that

> blood tests are not always very accurate for food allergies because if the

> allergen is not in the system at the time of testing then a negative

result

> could occur.

>

> Anyway we are going back to Great Ormond Street Hospital in London next

week

> to see the gastro docs (we have been waiting since September!!) When I

see

> them I will explain about the EDS which should by then be in his notes and

> see if they make a connection.

>

> Does your daughter suffer with constipation and have you had the tummy

pains

> investigated? Elliott suffers terribly and constipation and takes senna

and

> lactulose daily which we have been advised to wean him off. This coupled

> with the eosionphills they found in his stomach point ot eosionphillic

> colitis which was confirmed by a colonoscopy op. Anyway we should get

some

> answers next week - hopefully!

>

> Take care, hope your daughter keeps as well as possible. Look forward to

> hearing from you again.

>

> Sally

>

>

>

>

[Guest guest]

Hi everyone, I hope all is well.Just a quick update to let you all know that

things are well and Im still doing fine.Still dont have the computer back yet,

lol, they do say they are working on it.Life is going just fine and Im content

with the changes that are presenting themselves.I still wish there was more

that could be done for our los but I just help and love my mom all that I can.Im

moving on from the past relationship and looking forward to the future.I am

splitting time with my sister taking care of mom and working as a home care

cna.Money will be better than it has been in quite some time for me.I hope you

are all hanging in and I will be in better contact once I get the computer back.

Ron

[Guest guest]

Ron,

It's great to hear how wonderful you sound.

Ron

<dawgg4456yahoo (DOT)

com> To

Sent by: lbdcaregivers

LBDcaregivers@yah cc

oogroups.com

Subject

hi everyone

05/15/2008 10:28

AM

Please respond to

LBDcaregivers@yah

oogroups.com

Hi everyone, I hope all is well.Just a quick update to let you all know

that things are well and Im still doing fine.Still dont have the computer

back yet, lol, they do say they are working on it.Life is going just fine

and Im content with the changes that are presenting themselves.I still

wish there was more that could be done for our los but I just help and love

my mom all that I can.Im moving on from the past relationship and looking

forward to the future.I am splitting time with my sister taking care of mom

and working as a home care cna.Money will be better than it has been in

quite some time for me.I hope you are all hanging in and I will be in

better contact once I get the computer back. Ron

[Guest guest]

Ron, it was good to hear from you. Everything sounds good and very positive.

I am happy for you that you are not tied 24/7 in one place. That can drive

the sanest

person to run with the Screaming-Meemies. The Job is a good morale booster.

It also gives you a chance to be around other people and activities. And, now

you can also drop in to visit your sister.

I am happy for you.

Love a lot, and sing in your heart,

Imogene

In a message dated 5/15/2008 9:27:51 AM Central Daylight Time,

dawgg4456@... writes:

Hi everyone, I hope all is well.Just a quick update to let you all know that

things are well and Im still doing fine.Still dont have the computer back

yet, lol, they do say they are working on it.Life is going just fine and Im

content with the changes that are presenting themselves.I still wish there was

more that could be done for our los but I just help and love my mom all that

I can.Im moving on from the past relationship and looking forward to the

future.I am splitting time with my sister taking care of mom and working as a

home care cna.Money will be better than it has been in quite some time for me.I

hope you are all hanging in and I will be in better contact once I get the

computer back. Ron

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