Ehlers-Danlos Awareness Month – Fact #14-17!

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#14: Though genetic testing is available even if the results are negative it cannot rule out the possibilty of EDS. This is because not all of the disorder causing mutations and variants have been identified, meaning that just because you don’t have a mutation known to be associated with EDS doesn’t mean you don’t have one that is as of yet undiscovered. This is why physical examination and clinical presentation is so important.

#15: There is no cure for EDS. Treatment is merely supportive and includes continual, close monitoring of the neccesary body systems and treating individual symptoms as they present whenever possible. Physiotherapy, occupational therapy, and orthopedic instruments can also prove helpful.

#16: Surgery is often needed in order to stabilize extremely loose joints and help prevent them from subluxating and dislocating. Because of the known fragility of the tissue in EDS as well as the poor, slow and sometimes incomplete wound healing the pros and cons of such procedures must be thoroughly measured. It’s also very important to have a surgeon who is knowledgeable of EDS and the different steps that should and can be taken to help ensure the best possible outcome and prevent further tissue damage.

#17: Currently EDS is estimated to occur in 1 out of every 5000 births worldwide, equally effecting men and women of every race and ethnicity.

10 thoughts on “Ehlers-Danlos Awareness Month – Fact #14-17!

  1. Hey Katie,

    Did you catch the video of Dr. Francomano at one of the EDS conferences (on vimeo)? She was saying how they believe the reason women are more affected than men in an autosomal-dominant disease may be due to men’s large amount of testosterone and muscle mass, etc, which sort of balances everything out. This throws off the numbers of those with EDS, as well (it would nearly double it!).

    Their theory really makes sense to me as I only find women with EDS online (aside from my late grandfather, I don’t know any men w/it) and the fact that when I was doing heavy weightlifting last year (pre Dx) and ruining my body (lol), I actually felt better. It’s really not fair b/c if I could do that regime again, I know I could be a bit more functional. Argh! I don’t think this occurs with MFS, but not sure–you’re the expert there. Well, I just think it’s always better to be a man, so rather irritated with this finding! Haha.

    Thanks for posting… Take care!
    A ;-)

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    • That is a very interesting theory! I definitely talk to many more women online with EDS than I do men, but that could just be that women are more likely to join the groups and look for support online. I guess time will tell!

      For me when I was going to the gym and doing weight lifting it was destroying my body. All of my joints began popping out and my pain skyrocketed, overall I felt really sick (not what they tell you to expect when working out lol!). It sucked because it was making me feel better mentally, like I was accomplishing something. I was told with my tissue disorder that because my tissue wont hold things in place during weight lifting that I would have to slowly build my way up in weight while my tendons and everything got stronger. She said it would take me about 3 months to improve as much as average people do in 3 weeks (I imagine I’m not alone in that boat!). But it’s so important to keep our muscles and everything strong to help them compensate for the faulty tissue.

      For me, I think I will always just suspect that I have a disorder that is neither EDS or MFS, but somewhere in between. I believe that there are so many variations of these disorders that we as-of-yet know nothing about. I fit in the MFS category but I fit in the EDS one as well. I will probably keep referring to myself largely as someone with Marfan Syndrome, to those who don’t know much about tissue disorders. It’s much easier for them to understand that way. But personally I know that it’s not as simple as that, I don’t simply fit one way or the other.

      I guess only time, research and knowledge will reveal what is really going on with my body. I understand that one of the genes responsible for creating my connective tissue is faulty (mutated as they like to put it haha), and for now, that’s good enough for me! :)

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      • I’m sure you’re right about the combo (or in between disorder)–science has to catch up. What should I call you? I need labels… Ha! Sorry, that was terrible. I know a Dx is everything.

        I could do all the weightlifting as I’m rather rare–not very hypermobile and had never even subluxed any joint. I believe dislocations are rarer in the classical types, but you would know that one! I don’t *get* words like “bendy” or feeling “loose”–my body is very stiff and I want to be stretched out on a taffy machine (and hang from my head due to my horrid neck/shoulder pain). However, the heavy weights were pulling my shoulders out of the sockets (I had no idea–like a chronic sublux) and then I got tendonosis in 1 rotator cuff after I stopped going to that place, which I know was from doing swings (swinging weights in each hand up to your head and back down). Can you imagine?! I was using 10 lbs/hand but very high reps. I sure looked great! I build muscle easily and looked like a body builder due to having no fat on my bones. Haha. I do weight machines in PT now, but it’s around 20 lbs (yawn) and I look like a stupid skeleton again. Yes, it takes longer to build muscle based on my former life of hitting the gym almost daily and bulking up quickly. Sigh… Hopefully you can find a way to strengthen w/o popping out your joints. :)

        Oh, I was thinking the same thing that it’s all women as they talk about health more until I saw that video. It was just a blurb in Dr. F’s presentation, but really makes sense to me. I have a brother who always pulled his skin out (more than I can by far) before I got sick and then I remembered it and he said he can still do it. He’s much younger than I am and did it in high school or so. Aside from chronic, lower back pain and GI issues that show up in the non-EDS side, he’s totally fine, but I suspect asymptotic EDS due to being male.

        All interesting stuff…

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    • I absolutely agree. The estimation seems to get larger and larger the more they study. Not too long ago they thought the number was more like 1 in 20,000. I watched a clip last night where neurosurgeon and EDS specialist Dr. Fraser Henderson said “1 in 10 people (30 million) in this country (U.S.) have hyper-mobility connective tissue disorders”. He said they don’t know what percentage of those people have EDS but many of them have the same or similar chronic pain and hyper-mobility issues. Whether that estimation is entirely accurate or not, I still thought it was fascinating!

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      • Actually, if many of these disorders are of dominant nature I’m thinking of brown eyes. So baby he’s not off – it could actually make sense. I have friends who are hyper mobile and have fatigued hyper mobile children with pale skin and all sorts of weird symptoms and I don’t have that many friends because my life is so complicated. Furthermore, yesterday, I met someone who was telling of his daughter whom I believe has very similar symptoms to those of Gen and this town is tiny. I do however believe no one is affected the same way and that is where the difference is.

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