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Thread: Ehler-Danlos

  1. #1
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    Ehler-Danlos

    I thought I'd ask whether anyone else here has Ehler-Danlos Syndrome. I haven’t much hope as there’s nothing in the search engine (except for me) . This will be bit long (and boring?) while I explain what it is, how I found out, and why I'm asking on this board. Skip it, if it's not on your radar - no offense.

    It's a hereditary disorder and thinking is that mine comes from a spontaneous mutation. Comes in types - mine would be the hyper-mobility type or maybe a mixed type, with all the features of the H-M type. Among other problems (they seem unrelated but I guess they're all on the same gene) , it pretty much ALWAYS causes kypho-scoliosis! Major joint laxity, too. (My hips kind of pop in and out as I sleep, and all my joints started "rusting out" prematurely). But then, although my hands have always looked kind of skeletal - "geroderma" there is typical - my facial skin is extra unlined and "velvety". One silver lining.

    But now that I'm older, the negatives are dominating my life. My joint laxity is leading to joint failure - especially, my spine, of course. But besides my thumbs (below) I've also had other joints repaired and need more. Most importantly, that back! Three surgeons now have described it as "collapsing" and all seem to come up with colorful metaphors which do not amuse me. ("pretzel"?).

    It's diagnosed clinically, but a very hotshot international spinal surgeon in Israel (where I used to live) told me upon examination - especially range of motion studies - that he thought I had it . First time I heard the term. He watched me proudly go through my regular stretching routine (just short of a contortionist) - I could do it almost without warm up, even now - and said: "You're hyper-mobile"

    "Thank-you!" I smiled.

    "No, no!" he exclaimed, emphatically. "It's not a compliment, It's a problem! I think you have Ehler- Danlos!"

    I'll say it's a problem! I didn't have that much pain at the time, so I kind of forgot about this weird syndrome idea until ten years ago, when things started to obviously "go". Volunteered to do Hebrew calligraphy for my son's Bar Mitzvah class' certificates, and found after a few (you have to grip the special pens tightly), my right thumb was REALLY hurting. Was shocked to learn, upon Xray, that the cartilage was pretty much worn away in both ("Basal joint" of thumb).

    This was and is a catastrophe for a graphic artist - you know, thumbs are so important, sometimes people who lose them, get their big toe grafted on to replace them (no, thanks!). I had the right joint reconstructed in a complex operation using harvested tendon from my forearm (recently repeated on the left side) - and just a word to the wise, however tangential. Hands are complicated. That's why there are board certified hand surgeons. Specialists exist for a reason. Use them if you have a special problem! Any artist (or musician - or surgeon!) should NOT go to a generalist for a hand issue. I wish I had thought this through better!

    As usual , though (same as a great many locals), my geographical isolation tempted me into using second best for a complex medical problem (Heck, he said he could do them, had done many! Kicking myself since ).

    My (talented) local knee specialist did mine! I've lost some fine motor coordination and it may or may not be because he wasn't -- "as good". For me, that spells professional death - or almost, to my ability to do some of my work. It requires perfect mastery of my hands. I think with them. Bad enough that my cervical stenosis also affected them! But then, who cares (in a way) now that my scoliosis disability, has prevented me from lifting, sitting, standing straight - even thinking straight? That's because of either pain or pain meds (Choose your poison). So, Art - goodbye (only for now, I hope).

    Now that I'm seeing scoliosis-deformity specialty surgeons, I make a point of mentioning this problem . After all, for all I know, it could influence how they work on me, or even my eligibility for surgery. Personally, I’m VERY concerned about the fusion preventing the extreme stretching which is my primary pain reliever, especially for my badly damaged lumbar area. Will there be compensatory relief from the stabilization? If not, maybe I should stick to my exercises and expand them, under supervision. (Having more pain afterwords may well be my worst fear, since like most of you, I’m going into it for pain relief). For better or worse, this surgery is a ONE WAY TICKET!

    Most don’t seem to pay attention. So I started (without permission) to actually show them some of my stretches! After startle response, they are impressed ("Wow!"). They seem to see it as a good thing, which makes me think they don’t “get it” - what I’m saying about the pain relieving angle. (Remembering - "it's not a compliment"!). Worrying! I REALLY wish I could get an attentive, informed answer about this. I also REALLY wish I could find a surgeon for whom the syndrome is more than an esoteric term they once learned in Med School! I feel sure it should be considered in planning my surgery.

    Maybe I’ll see if there are consultants on the Ehler-Danlos Support sites online. It always causes scoliosis so it’s too bad if it’s not been studied more, especially for surgical implications. Guess that’s one of the drawbacks of having a "rare disease…" Too little research.

    I think it's good that there will now be one searchable reference on this site too. Any later “scoli” with E-D will find a comrade.

    Maybe I'd be taken more seriously if the diagnosis were formally confirmed by a geneticist (another out of town trip *sigh*). Most irritatingly, two surgeons have - without warning - grabbed a (repaired) thumb and twisted it backwards towards the forearm! Makes sense, as this is the key test of the syndrome – can the patient ‘s thumb touch their forearm? There are other physical tests too, but this is the easiest and best known. (I used to be able to flip it there easily - my famous trick in Jr. High. Loved to get that "Eeeew!....Do it again.") .

    But it's VERY BAD for them to twist those delicate repairs. (Surgeons: THINK! ASK!!) You’d think that having had to have both thumbs reconstructed would already clinch the diagnosis!

    Maybe this is mostly a personal indulgence to vent about my problem - how what once seemed to be only a harmless quirk (like - can you curl your tongue ?), turned out to be life-damaging. Got it off my chest! Also, I don't know how to incorporate this into my surgical consults. I've already gotten the message that they don't seem to know much about it. (or care). How to handle that? Thoughts?

    Then too, I figured it would educate those who had never heard of it (most of you, probably). And - who knows? It might be helpful to someone on board, who sees themselves in the symptoms described (there are more!) and wants to explore. It’s one rare cause of “idiopathic scoliosis”.

    Even more important (since prevention is key), parents of “scoli” children may want to read more if their child has symptoms like mine (and there are other, worse kinds too!). Early recognition can be a life-saver. If children are treated early, it can avoid many of the worst outcomes. I’d probably be fine now if my parents had known, and I’d followed recommended guidelines (including bracing and special PT )! I even tried to edit the thread title to add - ("personal story and also parent alert") - but was unable.

    Could also be later, someone will hear something and even think to get back to this post . Better still (for me!), maybe someone here has - or has heard of someone - with this syndrome. They might be able to provide more spot on guidance. Since it's one cause of severe scoliosis , I thought I might find I wasn’t alone. (Note, it’s somewhat related to Marfan’s syndrome, and a distant cousin to Charcot-Marie-Tooth) .

    Apologies to anyone who got to here and feels their time was wasted because it was too OT. I figured (hoped) most would skip it if they weren’t interested.

    Amanda
    Last edited by Back-out; 04-28-2010 at 03:19 PM.

  2. #2
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    Excellent post. We have one member who was recently diagnosed. I hope she posts to this thread.

    Thanks.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  3. #3
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    Hiya, I have EDS - I was diagnosed in January with hypermobility type and some vascular symptoms. I'm 34 and up until this point, my scoliosis had been classed as infantile idiopathic scoliosis (I've had it since I was 6 months old).

    I joined an EDS support site based in the UK where I live, but there's no real treatment for it apart from physio so I don't bother with it much. I'll be getting orthotics for my feet (the arches have collapsed) and will be having my heart checked every six months because of the vascular problems (my great grandfather and grandmother both died of them). I've also developed POTS - Postural Orthostatic Tachycardia Syndrome - which is probably caused by the EDS, and I take fludrocortisone every day to help combat that.

    My main worry is also my hands, as I'm now a children's book illustrator and I play several musical instruments and have noticed that I now get pain in the base of my thumb. The hospital are going to be making me special splints to use when playing the instruments, so hopefully they'll help
    Last edited by tonibunny; 04-28-2010 at 03:10 PM.

  4. #4
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    wow...what an awful disease to deal with....and for it to happen to artists...anyone at all, but to those who use their hands to make a living...and to create art...how extra awful!

    Amanda...is there a doctor in New York who specializes in it...EDS...?

    i wish you guys the best...this disease needs publicity...so it will be researched more....and you need a "publicity celebrity spokeperson"! when i used to work with Lyme support groups, we kept (sorry...this is bad) hoping for a celebrity to get sick with it! we got a few, but they werent super famous, plus they found out they had it early so got better more easily than those of us who had it for months or years without diagnosis...it is a shame that it takes a celebrity spokesperson to help get attention to illnesses that go un-noticed!

    jess

  5. #5
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    Wow! I'm so glad I posted this, Tonibunny! SO sorry you have this problem, but maybe we can help each other.

    In fact, you already have. I have "Postural Orthostatic Tachycardia Syndrome" and had no idea it was related to ED! I was once even hospitalized for it for ten days.

    It was then augmented by a medication which also causes it (I lay in and out of consciousness at home, for three days after titrating it up - under supervision) I was only able to get to the ER when I could finally send an SOS to a son, by computer. By then I'd fallen down I don't know how many flights of stairs and was severely dehydrated. Risked paralysis from cervical stenosis too....Crum. It was awful in too many ways to count.

    My local hospital is so incompetent, they couldn't figure it out even though the first thing to check in a new ER admission is whether they have begun any new meds and whether that med could cause their presenting symptom! Mine was extreme POTS. (just learned the term). My (former) family doc was called in as my attending physician, too - had recently given me a physical, where I presented him with my med list like a good girl. The offending medication was conspicuously absent. But it was on the hospital list and I had brought the (new) bottle.

    But even when I discontinued the medication I kept having the symptom though much milder. You've just cleared up a major mystery. I now know I MUST see that geneticist!

    And maybe I can help you - or perhaps I already have. About the basal joints of your thumbs. There is a reconstruction procedure available, as described. In the hands of an excellent Board Certified hand surgeon, you should be fine. You really only need to do your dominant hand. I have found (too late) that professional musicians know the best surgeons. Sounds like you have already found one and s/he prefers to put off surgery using splints instead. If it works (and doesn't hamper your ability to handle your tools) more power to them and you, waiting.

    One of my goals after surgery - if I DO have it - is to write and illustrate children's books, BTW! It's a long held dream. I think I'll aim at the picture book age, up to 7-9. My mother already has three published books (Dad illustrated them) for the young adult market, and is now writing another which she will illustrate herself despite macular degeneration. She's racing the clock to finish before it gets too bad.

    So, howdy and thank you for introducing yourself. It seems we have much in common, good and bad.

    Amanda

  6. #6
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    Thanks for the sympathy, Jess! I find that when other people sympathize, I feel less sorry for myself.

    Great idea about seeking out an ED specialist on my next trip to New York! Maybe then I could have a collaborator with whatever surgeon I work with, to be sure all angles were covered!

    The thinking is, in the rather casual consults I have that I don't have the vascular type as after so many surgeries and giving birth to two children, I would have found out. (and would not be here). It causes weakness of the valves and uncontrollable bleeding, as far as I know. Who knows? Maybe some of the unexplainable extreme bleeding some patients have suffered from (as described on this board recently) was caused by undiagnosed E-D! Didn't one of the posters - the one who almost died on the table - say a valve had given way? I'll check.

    In any case, it's an excellent reason for surgery candidates to be aware of this syndrome in case it's behind their scoliosis. I'm not sure the vascular type always comes with hyper-mobility.

  7. #7
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    Hi Amanda,

    I'd be terrified to have surgery on my hands - thankfully I don't think it will ever get that bad, if I'm careful now. I'm just glad that they've identified the EDS now. I actually suggested that I could possibly have it to my cardiologist, and he's the one who referred me to the rheumatologist who made the diagnosis - I knew I was really bendy, and had already been on a POTS forum where people were mentioning EDS, and that made me wonder about the scoliosis too. Everything fitted, but at the time I couldn't see the point in getting an EDS diagnosis just for the sake of putting a name to it. Since doing so though, I've realised how valuable it is - it's meant that I'm getting these splints and orthotics, and I have better access to physio.

    I've had plenty of surgery for my scoliosis, and had serious problems following my first posterior fusion aged 10 (ended up in intensive care) and following my first costoplasty, when I lost a lot more blood than they thought I would. Now I wonder if that's because of the EDS. I had more surgery last year with no problems, though it was just a one-level fusion extension and the anterior was minimally invasive.

    People with Hypermobility type EDS don't generally get the Vascular problems, but sometimes the symptoms can cross over between types and people can't be defined by just one type. I guess that's what's happened with me. I don't really care, I just want to be better! My back is brilliant now (fused T1-L4, can do everything I want) but I'm currently trying to get on top of the POTS and am also dealing with a thyroid/pituitary problem, both of which make me exhausted.

    It sounds like you have a much more severe case than I do, and I'm sorry to hear of all the probs you've had. Fingers crossed (heh) things go well for you x

  8. #8
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    Wow, you may have helped me again. I have had hypothyroidism since my mid twenties (take supplementation which has to be carefully regulated since too much can reduce bone density - think that's already happened)

    But I too am exhausted all the time now. I think I should have my pituitary checked. These sub-types seem to really overlap in symptomatology.

    I must RUN to a good rheumatologist, and I think that geneticist could help too As you said, diagnoses can help.

    Although, thinking again, I'm afraid in the States under our new medical plan, genetic conditions and problems, may reduce access to care instead of the other way around - for people under Medicare (I'm coming close to it). I've been reading some frightening things lately . I don't mean "Tea Party" hysteria, but reasoned analyses of the new plan and even the current implementation. This is a bad country to age in now!

    One must be very careful about getting diagnoses put on ones permanent electronic medical record - especially ones which are not temporary (not much is more permanent than a genetic disorder!) It's looking like under MEDICARE, chronic conditions are almost death sentences - except for people who have supplementary insurance and even then...And that goes in spades for approving scoliosis surgery (for the few good surgeons who even accept MEDICARE! )

    BTW with the POTS, I also had extreme orthostatic hypotension. I had no BP at all when standing (no wonder I kept blacking out) - that lasted until they gave me what I THINK was the very same medicine you take (I discontinued it finally, as it was causing fluid retention, though) .

    You are obviously getting far superior care to me. My area is dangerously "Medically under-served" One of my main goals is to move - somehow...

    tonibunny, there is NO reason to have the thumb reconstruction unless your cartilage has worn away like mine and your arthritis requires it. But there really IS an excellent treatment for it. If I were you I'd go to an excellent Board Certified hand specialist to follow you, the same as your other specialists.

    I've just been reading about ED online and I've about had my fill. They publish such extreme examples of disabilities and genetic abnormalities that they have found to be related (especially about hands!) Some of the photos make me ill and - of course - I recognize myself in all of them.

    I think the key re hands is:
    1) avoid pinching motions with your thumb
    2) find a terrific hand specialist who works with professional musicians. A concert pianist friend gave me a short list, but it's kind of closing the door after the horse is out for me...Such a specialist will NEVER steer you wrong.
    3) find highly specific exercise devices to strengthen deficient muscles in your fingers. Mind are hyper-extensible and so are my son's. He is a classical pianist.

    I found for him little spring-loaded devices which have different strengths for each finger. That and specific exercises on the piano, took care of it. I also got him some rather pricey gyroscopic type exercise balls which strengthened his wrists.

    He became known for his amazing dexterity among the pre-concert pianist set in my university town (quite a competitive, elite group) - until he dropped it (and right after I'd gotten him a great used Steinway Grand! )

    Now he's working as a ....gulp....DJ! He says he couldn't have done it without all his classical training, though. And, I guess, his finger strengthening exercises. Great!...Sort of.
    Last edited by Back-out; 05-20-2010 at 10:24 PM.

  9. #9
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    Thanks tons Amanda. Did I mention that I live in the UK? All of my treatment for this is on the NHS.

    The fludrocortisone for POTS is supposed to increase the volume of fluid in your blood, which takes the pressure off your heart as it's less effort to pump it around your body - but obviously if you take too much you'll end up with fluid retention. It sounds like you could have done with a smaller dose?

    As far as I know, thyroid probs and EDS aren't linked. I just got lucky there My mother has Hashimoto's, so I assumed that's what I have too, but I have had some odd symptoms which suggest it could be a pituitary problem rather than just a thyroid one. I'm just waiting for the blood test results.

    Thanks so much for your advice regarding my hands! That's incredibly useful information. As your son found with his piano playing, sometimes the hypermobility is a boon when flying around on the viola (Paganini himself was supposed to have had a connective tissue disorder!) and other times it's a pain, such as my thumb bending backwards on itself as I hold the bow.

    Toni xx

  10. #10
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    Quote Originally Posted by Back-out View Post
    (Note, itís somewhat related to Marfanís syndrome, and a distant cousin to Charcot-Marie-Tooth) .

    Amanda


    Doctors believe the underlying cause of my daughter's Kyphoscoliosis is Charcot-Marie-Tooth (CMT). Several generations of my husband's family are affected by CMT, but Jamie is the only one with Kyphosis or Scoliosis.

    We've had a brief discussion or two about CMT on this forum.

    Mary Lou
    Mom to Jamie age 21-diagnosed at age 12-spinal fusion 12/7/2004-fused from T3-L2; and Tracy age 19, mild Scoliosis-diagnosed at age 18.

  11. #11
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    Ehlers-Danlos Syndrome and Scolosis

    I too, have been diagnosed with EDS and have the hypermobility type, but also have mitral valve prolapse, which is a cross-over symptom of vascular type. I wonder how many scoli patients also have EDS. I am 46 now but had my surgery at age 12. My ligaments are super loose and I was 'double-jointed' as a kid and could do all these weird things with my shoulders, hands and thumbs. Only 6 months after the surgery, my Harrington rod snapped in 2. I didnt do anything out side of doctor's orders and I never knew it snapped. My theory is that my ligaments were so loose and I had little muscle that my spine was going to do what it wanted to do. I have had similar results trying to 'straighen' other things like getting my painful bunion fixed. 5 years post surgery and the loose ligaments pulled that toe right back over. Other EDS symtpoms besides the double-jointedness include velvety soft skin as was mentioned and very 'stretchy' skin. A high-arched palate is another characteristic as is 'cigarette paper' scarring. If your child has scoliosis and is also double-jointed, I would bring up EDS with your physician. Many people don't even know they have it.

  12. #12
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    Another EDS/Scoli patient

    Hi Bendy Folks!

    I'm so glad to have found this thread! I was hypotonic at birth, to the point where my parents were told I would not survive and were not allowed to see me for a week. I'm still here 66 years later. Despite being very hypermobile, having kyphoscoliosis from age 11 (blamed on polio), dislocating easily, having a vascular tumor the size of a coconut in my liver, MVP, velvety fragile skin, cigarette paper scars - the works - and seeing dozens of specialists I was only diagnosed with EDS two years ago. Oh, the thumbs, the joint at the base of my right thumb is going too. I have braces I have to wear from time to time to totally rest my fingers, wrists and hands. My friend's son has silver finger ring supports which are beautiful - see: http://www.hypermobilot.com.au/1/pos...-are-here.html . There are days when I think about ordering these.

    I realize now that both my parents had EDS, different forms - Mother had severe kyphoscoliosis from age 5, dislocated at the drop of a hat, lived to 78 and never developed wrinkles though she had very loose skin, like a too large sleeper on a small baby. Dad was tall and thin, dislocated at the drop of a hat, had vascular problems and an aortic aneurism (is it still an aneurism if it doesn't rupture? He lived to 82 and outlasted it.) But he almost bled to death several times from a nosebleed, as have I (and my youngest son).

    My main problem is pain from my scoliosis. It extends from upper back into my lower back, groin, right hip and down to the sole of my foot. I have to wear orthotics in my shoes to walk, or my feet collapse inward. Has flexible supportive bracing like a SpineCor or one of the Lycra Dynamic Movement suits helped any of you with your pain? I just feel like if I had some support for my spine, not immobilization but something I could move in, it would reduce my pain. I've had bracing of one kind or another off and on all my life, and have found it generally helpful.

    Thanks!
    Deb - 66 - scoliosis since 11, post-polio, Ehlers-Danlos and hypokalemic periodic paralysis

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