Understanding the Ehlers-Danlos Syndrome

from I was born with Ehlers-Danlos Syndrome on Monday, 28th of March, 2011 10:14.

Written by Berta, published over 5 years ago.

Understanding the Ehlers-Danlos Syndrome

I know that, out of the blue, this scrip would seem long, but I beg you and I appreciate beforehand that you read it carefully. Especially to the ones that do not suffer from EDS, as for me and the rest of the people affected by it, your support is essential. I believe it would be useful for everyone to get to know me a little better and at the same time try to understand together what is Ehlers-Danlos Syndrome about. Mi intention is not to explain scientifically and in detail what EDS is, because I am not prepared for that. My objective is to spread the existence of this disease so it is the physicians the ones who worry about recognizing it as a disabling illness, and treat those who suffer from it with the care and attention that we deserve. My objective is no other that fight for the true acknowledgement of EDS.

What is it? The Ehlers-Danlos Syndrome (EDS), is a genetic disease in the connective tissue, which consists of an alteration in the collagen that affects the whole organism of the ill person, specially on the skin, articulations, blood vessels and internal organs; causing in turn chronic capillary fragility, fatigue and pain. It is calculated that EDS affects from one in every 5 thousand people, to one in 10 thousand. Within this syndrome, 6 types had been classified, although only one person can show symptomatology of a few of them. There is also the case in which within each type there exist different grades, which makes the disease, its diagnose and treatment even more complicated. So there are many symptoms that come with it and they don't affect all the people the same way. From all these we can conclude that if the name of this disease is difficult to pronounce: "Ehlers-Danlos Syndrome", it is more difficult to understand it.

There is something important for me, and I imagine it is for the majority of patients of EDS, that deserves a special mention: Our Physical Appearance. And it is that far from looking ill, the majority of us have a physical appearance that is relatively healthy. For the naked eye, dressed up and walking down the street, there is practically nothing indicating that we suffer from a disease that conditions, and a lot, our lives. While we tend to be people with bags around their eyes and somewhat pale, personally and being a woman, I have a great ally: makeup, which really does miracles. People living in countries where the sun usually shines, can have certain tan which also hides our paleness. This fact, far from being an advantage, turns into something that doesn't help when trying to make the others understand the importance of our illness. When I was a child and during my adolescence, I used to hide my hands below my sleeves, because they have always been a clear sample of my Ehlers-Danlos Syndrome.

But now, sometimes I show them and I invite them to be touched, meanwhile I try to make whoever I have in front of me understand that "that" which makes then be like that, is making my whole body work as bad as my hands. Hands that were object of cruel jokes during my childhood, coming from games and class mates, as the orthopaedic boots I used to wear to correct the deviation of my foot. I remember with shame, how it was that until I turned 16, I used to hide with my hands (those hands I also wanted to hide), my teeth which was unveiled when I smiled. Thanks to the wonderful invention, teeth caps, there came a day in which I could smile without complex. These details that I am telling you could seem tiny, but for me they were not. Although if at that moment I had known all that EDS would provoke throughout my life (apart from what I had already suffered in my childhood, coming in and out of hospitals), I assure you that many "things" would have been different. I am explaining this so you understand that EDS, could be "almost" unnoticed by the naked eye, but sometimes it can be noticed just as far as to, instead of understanding you, make fun of you, consider you a weirdo, tell you you are made of "butter" as they used to tell me not that long ago. Because now, being 46 years old, I do not tolerate it.

How is it diagnosed? The complexity of EDS, makes its diagnosis to be difficult and costly. In the majority of South American countries, the situation is similar to the one we nowadays have in Spain. The diagnosis can be reached through many ways, given that the professional is willing to go along any of them. This is to say, that obtaining or not the diagnosis depends in a high percentage of the interest that the doctor shows when treating us, performing the tests themselves or referring us to who is in charge of doing so. It is essential that the professional performing the diagnosis knows and acknowledges what EDS really is, which is not easy. We can go to state or private medical consultation (depending on the country and the economical situation of the patient). In both, the procedure could be very costly, and that is another negative point that we face, because that's the reason why some tests are not carried out in every country. I don't want, with this to discourage anyone, but that is the cruel truth, to which disgracefully, many of us patients are confronted: to find a professional that knows the most possible about the Ehlers-Danlos Syndrome, and that also wants to help in its diagnosis.

Once we achieve that our doctor gets involved with this, there are many options. Although the researches on the matter are few and go very slowly. The most used are these three:
1. Exhaustive physical examination. (It is performed mostly by rheumatologists, orthopedists and dermatologists, although the collaboration of other specialists is not ruled out):
*Brighton Criteria that includes and widens the former Beighton Score, used for 30 years. According to this criterion some alterations must be kept in mind as the skin (soft, thin, laxa, veins can bee seen under skin, bruises, stretch marks, poor healing), hernias, uterine and/or rectal prolapse, varicose veins, mitral valve prolapse, myopia, etc. ) >> * Information copied from http://www.reumatologia-dr-bravo.cl/para%2... where you have more information on this respect.
2. Skin biopsy: With this test the collagen typing is carried out determining what kind of fiber is being affected. That way the suspicion of EDS can be confirmed, but it does not indicate the exact type being suffered, except on certain cases as EDS type IV, for example.
3. Genetic analysis: With this test you can find out what is the genetic mutation causing the illness. And confirm with more accuracy what kind of EDS is the one affecting us. Although according to what I've read in some sources, there is also the case in which the exact type can not be told because the researches have not gone that far yet.

Important note: I want to clarify in this point, once again, that I am simply a person with a disease, without knowledge that may facilitate my comprehension and my explanations. It is hard for me to understand clearly the way of diagnoses and its reliability. I try to explain it the best I can. My intention is simply to make people aware of the importance of this illness.

Does it have treatment? Because it is a genetic disease, the Ehlers-Danlos Syndrome, up to date, has no treatment. This disease causes the sufferer different pathologies, some of which I have been listing already and also you can see a summary of them in the photo album called "Possible Pathologies". The only thing we patients can do, and in fact we do it, is to pilgrim from specialist to specialist to try and relieve the different ailments as they appear. The problem is that this is a continuous fact in our life, for which we come and go very often from hospitals. It affects me a lot and concerns me a lot more the fact that many of these specialists, not only not know what EDS is, but even, the majority of them have never heard of it, and it has to be me who informs the Doctor about what the disease consists of. Anyways, I also have to say that the majority show a great interest, although when I come out of the office, most of them forget. Maybe in other countries of the World there are studies being carried out about EDS, but here in Spain, it is very little what they do.

The harder thing for me is to go to consultation with the specialist, and him not having the slightest idea of what I am talking about. Therefore, the Ehlers-Danlos Syndrome, although it is considered to be a minor disease, is not typed as a disease that means disability for the patient by itself. I mean with this that the fact of having the confirmed diagnose of having EDS, doesn't give the patient any right whatsoever, and he or she is not recognised any grade of disability or handicap. People that have attained any grade to be recognised, didn't get it because of the Syndrome, but because some of the concrete pathologies have been affecting them in a high percentage, enough to consider it handicap, but not because they suffer from EDS. Modestly, I believe the reason why this is like it is, is no other than the great ignorance of this disease, which in its turn causes a total lack of interest towards the people that suffers from it.

There is no specialist that treats Ehlers-Danlos Syndrome, as it is, as it happens with other rare diseases. If this wasn't the case, the way would be evidently easier, not only for a better quality of life, but also for a better comprehension from Society and the medical community. I feel condemned for life to pilgrim from specialist to specialist without the Ehlers-Danlos Syndrome being recognised as the cause of my ailments and that generates an even greater pain in me, a psychological pain provoked by the impotence of not being able to do anything at all for things to change.

I beg you not to forget that I have a disease, without any kind of Degree, and with all the good will that my health allows, I try to make the Society aware and esentially the medical professionals (Doctors, nurses, anesthesiologists, registered general nurses, physiotherapists, etc.) of the existence and real importance of this desease as of the disability that it may cause for those who suffer from it. I wish to state also, that I do not belong to any Association related to EDS, not because they don't exist, but because, for personal reasons, it can't be any other way, much to my regret. Anyways, you already know that in the photo album "Page Information" you can find data about some of these associations (in the picture: friend webs) , in case any of you are interested and there is some information in the different albums and pictures. (especially the "Possible Pathologies" album)

I have tried to explain myself, using a language as general as possible, for everyone of us so we can understand a little better what is Ehlers-Danlos Syndrome. I have based on my acquired knowledge in the past years, in my own experience and asking some information in Dr. Bravo's web. If any of the people that read this script notices any failure in relation to the explanation that I have given, I will appreciate he or she would communicate it to me so I can correct it.

I also take advantage of the occasion to make a call to any person that knows a Doctor specialized in EDS, both in Spain as any country in South America, apart from Dr Bravo in Chile, whom I admire very much. It's of vital importance to share the information of doctors that are implied in our problem and ready to help us. The advances done in other countries of Europe or USA are useless, unless they are applied in ours.

FOR A BETTER FUTURE
MANY THANKS
Berta Martínez Boronat, sick with the Ehlers Danlos Syndrome. Barcelona – Spain.

Written by Berta, published over 5 years ago.

2 comments for «Understanding the Ehlers-Danlos Syndrome»

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  • jaapsmit | published over 4 years ago | Originally written in English

    Dear Berta,
    I see that even after five months there is no reaction yet to your story. Of course people have been reading it, I am sure about that. Maybe it is a little difficult to react on the story. It is rather long. Besides, this is a community of people having the Ehlers-Danlos Syndrome, so they already know most of what you write. Your story is mostly meant, I think, for outsiders, and here is the place for insiders. Would you like to summarize your story, especially taking care of highlighting your personal experience with the disease?
    One thing I like you to answer on is your remark on advances done in Europe and the Usa, being "useless, unless they are applied in ours"? What do you mean by that?
    Please don't take my comment as criticism; I would like more exchange between our members, in order to be able to help each other to express ourselves and live better with EDS.
    Jaap

  • Graciela | published over 4 years ago | Originally written in Spanish

    Dear Berta:

    Just as jaapsmit says, this forum is precisely for sick people. As it's very important to show the symptoms and the way we are ignored by many, including the doctors. It's what most of us have lived.

    I'm also 46 years old and as you, was born with the syndrome. The most difficult for me was the mockery and bad jokes, the worst was that it took me more than 20 years to be conscious that I lived with pain.

    To top it all "the tailor's wife is the worst clad". As a child the life together with my mother's family was daily, we lived 50 meters away one from the other. My aunt, single, was a "doctor" of different specialties.

    When I told her of the EDS diagnosis and I even sent her a copy of the official recognition by the authorities, she didn't change her way of thinking at all. She said that those were foolish things, that it was all in my mind and to stop always bothering with the same foolish things.

    Up to this day I don't know and I will never be able to find out, she died denying the existence of EDS. This has been the reason that the rest of my family, where I notice some symptoms, continue to deny the existence of EDS.

    I'm here to suffer for all of them and alert for when they recover from some EDS episode. I even see me giving my elder sister a job, so she can take better care of her health, have an income and not to see herself so weighed down in trying to lead a "normal" life.

    What specialist diagnosed it? How old were you? What symptom was the one that made the alarm sound off? How did you react when you took knowledge of your diagnosis?

    Notice: This text content has been translated automatically by a third-party service.

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