Ehlers Danlos Syndrome Thread

Discussion in 'disABILITIES Community Board' started by KPeveler, Sep 25, 2013.

  1. KPeveler

    KPeveler Moderator Moderator

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    Calling all Zebras!

    There seems to be a lot of us with EDS here on the DISboards, and just as there are threads for people with fibromyalgia or thyroid problems, I figured we could do with our own general thread. It is nice to meet others with the same condition, ask questions, and just get to talk even vent to others who understand what we are going through.

    I am Katy, I live in Anaheim, CA (for now) and I have EDS: Hypermobility Type (HEDS, or under the old system, EDS Type 3/EDS3)


    I also have a host of secondary conditions, including POTS/**, GI problems, and neuro damage and problems due to laxity in my spine. I probably have a tethered cord. I also have a neck fusion from C2-Occipital (skull). So I literally have my head screwed on straight. Before that, it was so loose my doctor was shocked I was not dead or a quadriplegic. There is some residual damage there too. I use a wheelchair full time when I leave the house.

    I live down the street from Disneyland, so I go often. I am learning ASL. I have one small, very dumb but very sweet, kitty.

    So that is me!

    So if any other people with EDS, any type, around want to chime in, introduce yourself, just say hi, ask a question, anything, please join in! Welcome to the EDS thread!
     
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  3. utterrandomness

    utterrandomness Mouseketeer

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    I was hesitant to post to this thread, because I'm not diagnosed with EDS yet, but I definitely have either EDS or something very similar. I saw a geneticist about a month ago who wants to rule out a bunch of other stuff first (she's very thorough, and I foresee myself showing up in a journal someday :P).

    So, yeah, that's me. Hi.
     
  4. clanmcculloch

    clanmcculloch DIS Veteran

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    I suppose I should add my info.

    I posted a thread some time ago asking about EDS in regards to my 13 year old DD. I had a couple doctors tell me she does not have EDS. Her Physical Therapist was great about encouraging me to continue finding answers as she continued to help DD13 with her pain and recurring injuries. Her PT was thinking recently that she has JRA. Her primary doctor researched rheumatologists who have good histories of really investigating her kinds of problems, especially when the symptoms aren't a perfect fit for any one particular diagnosis. We just saw the new rheumatologist this past Friday and she is very confident that DD13 DOES have EDS type III with POTS. She said that DD13 doesn't fit a nice little checklist for EDS but most definitely has it. I have to call later today to book an appointment with a cardiac geneticist just to make sure she doesn't have anything serious going on but the rheumatologist considers this something we're doing just to rule it out as opposed to thinking it's a likelihood (and I'm letting myself believe her).

    My 15yo daughter was given a tentative EDS type III diagnosis last year but in her case she doesn't have any kind of negative symptoms from it as far as we can tell. She's just unbelievably flexible. I suspect she may have POTS issues going on but it seems as though she hasn't had any of her little dizziness episodes in quite some time so I'm hoping that now that she hasn't grown in over 2 years that it may be settling down or even going away (I've read that happens).

    Anyway, DD13's issues involve a lot of pain in her feet, ankles and knees. She has custom orthotics for her feet since she basically walks on the inside of her feet without them (her ankles collapse inward and her feet are completely flat) and this helps a lot with the ankle and knee pain since it at least keeps her properly aligned. It's pretty rare for her to get any pain in her arms but she is prone to pain in the upper half of her back, her neck, and the base of her head. This back, neck, and head pain had eased up quite a bit when she went gluten free but it's back again. It also seems to only be bad when her GI symptoms are bad so I think it's more GI than EDS related but then again I've also been reading of ties between POTS and GI issues so I really don't know which direction to look. I think I need to focus on one thing at a time.

    Anyway, that's us.
     
  5. KPeveler

    KPeveler Moderator Moderator

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    No problem - I actually first heard of and figured out I had EDS right here on the DIS! I just know there are a lot of us, and I figured at least now we have one thread if we have general questions or whatever. That and it is nice to know there really are a lot of zebras out there!
     
  6. goofieslonglostsis

    goofieslonglostsis DIS Veteran

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    Ah, diagnoses have been given since. Congrats, I guess?

    DD13, if not done recently already, have her feet and most importantly alligment during usage looked at. She wouldn't be the first (or last) where the ankle issue might already have a contributor in improper alligment within the feet. Easy enough to adress, but you do need to be aware about it first.

    As far as the cardiac side; no need to tell yourself anything. I know the scary stories stick much more than the others, but they are not the norm. Cardiac issues to such an extend it becomes anything other but innocent are rare. Some issues aren't that uncommon and while the symptoms can be an issue, the most important thing is that they are innocent. And let's face it, the not innocent is what worries when just hearing a word cardiac, let alone when reading some of the stuff about vascular eds.


    DD15; let's also not forget her being a teenage girl. It's not uncommon for girls in their teens to have a period of easy fainting etc. Maybe time will reveal her to be one of those girls.
     
  7. clanmcculloch

    clanmcculloch DIS Veteran

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    I guess congrats? LOL It is a big help to at least have a direction to focus on. You really have been a LOT of help. I can't express enough how much all the info you've given me since I began this journey has helped, including with perspective (maybe especially with perspective?).

    I realize that the serious cardiac issues are rare and she has no signs pointing to the likelihood of her having them so really I'm not stressing that at all. I haven't spent any time researching it which tells me I really am pretty relaxed about the possibility of it being something we need to worry about (in case you haven't noticed, my coping strategy for these things is research).

    She definitely has problems involving alignment from her flat feet which causes some of her pain. Over the weekend she doesn't wear her orthotics which are what keep her properly aligned and by the end of the weekend her ankles and knees are in pain. No, that doesn't convince her to wear them. She likes being bare foot too much. She's a teenager. Sigh......

    So far no fainting. Her PT has her keeping a journal of what she's doing when she suddenly feels dizzy so that she can be more aware of what movements cause it. So far there are some very clear patterns to which movements cause it which is good so she can be more cautious when doing those movements.

    Thanks again!
     
  8. goofieslonglostsis

    goofieslonglostsis DIS Veteran

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    You are SO welcome. I've never forgotten the warm bath I slid into when visiting the Dutch marfan board. Back than gp suspected me of marfan, so off I went to read up. It felt kinda fitting but not that eureka-fitting. They were the once that instinctively knew it would be connective tissue disorder and question would just be which. Through them I found eds, through them I learned where to get my info, through them diagnosis would follow. Paying it forward is easy enough to do, but can be so all important which these types of conditions that are too unknown within the medical profession.

    I'm not always that great with the touchie-feelie so to say ;) but do have real talents when it comes to knowledge gathering, processing, advocating, relating issues to gouvernment etc. and through my own life with eds have found that this is my statement in life to use that in order to try and pave the road for others just a little bit, whether it being eds-specific or more general in legislation. So when reading a topic like yours, it's a must to respond.


    Grin, we all need our strategies.

    A teen and a girl, most interesting combination. ;) If she can see the link, discuss the possible long term issues, like not so easily pain relieve when wearing later on etc. Obviously she's still a child and will need guidance and can't (shouldn't) take 100% responsibility, but making her part responsible imho is a good thing. Just like you are raising her for daily adult life, you are also raising her to eventually manage her health, which includes making decisions like this, overseeing consequences and going the right path for her short and long term.

    If it's pure esthetics; more and more can be done these days, but can take quite some shopping around. Whether it being insoles that are made in such a way they will fit most shoes right upto full orthopedic shoes that, where possible will now be made to mimic that shoe the child (or adult) loves the look of. Unfortunately $$ can be an issue, esp. making orthopedic shoes have nicer looks can add up and most plans do not cover the esthetic part of the bill (if already covering the medical costs). But if technically and financially possible, it might be a subject worth putting on the table with her.

    Same goes for more aids, money and the right dealer can make the world go round when it comes to it not just being functional but also esthetically looking more attractive.

    Sounds good! If amongst those moments are the going from sit to standing, from flat to sit etc. there could be a mild issue of pots in there. Good thing though, that as you said can be very managable with awareness and alternating behaviour like moving a bit slower or for instance having a bite to eat before getting up out of bed in the morning.

    PT journaling; smart cookie! It's consuming, but also journaling her food, activities and pain levels can add to the info. All those can add to (feeling like) fainting or reducing it.
     
  9. pitterpint23

    pitterpint23 Mouseketeer

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    Glad to find this thread, I don't have it myself but I have a ton of friends I made on Instagram with it. Support for you all from me!
     
  10. Cierese

    Cierese Mouseketeer

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    Hi, there!

    Single Mom with 3 kids. My oldest (DS13) was diagnosed with EDS (hypermobility) earlier this year and the geneticist 'unofficially' diagnosed me as well while we were there (no insurance, but have been having issues since I was a kid that no one picked up on). My other two children, DS5 and DD11 are going to see him in a few weeks. I'm so glad we can finally put one.. and one... and one... and one together as far as all the health issues are concerned.

    Don't have time to type much today, but wanted to say hello!

    Happy Thanksgiving!!!
     
  11. Mommee

    Mommee DIS Veteran

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    I don't think I noticed this board before! I'm another EDSer, with hypermobility type. I have what the geneticist called "some classical crossover", as my skin and small joints are involved. The only joint I have that is "normal" is my right elbow.

    I don't post often and when I do they tend to be short (hands are one of my worst areas) but I'm on the DIS reading quite often. I would love it if this thread would stay going popcorn::

    ETA....come to think of it, the right elbow IS hypermobile, so I guess it's not normal. But it doesn't cause me pain or dysfunction yet!
     
  12. WheeledTraveler

    WheeledTraveler DIS Veteran

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    I realized I hadn't posted here so I might as well, although I'm generally fairly open about having EDS. I have hypermobility type, but some features from the other types. While I have all sorts of instability/other EDS issues, my real limiting factors are having severe fatigue and pain. Everything else I can work around.

    Of relatively typical co-morbid conditions I have: dysautonomia (not typed), GI problems, Chiari Malformation (had decompression surgery), occult tethered cord syndrome (had detethering surgery), probably a mast cell disorder, intercranial hypertension, cervical instability (fused C2->skull, but have lower instability that we'll have to correct at some point), and other things I'm not remembering.

    Not directly related, I have learning disabilities mainly centering on executive functioning deficits (mine is almost like non-verbal learningly disability, but not quite). I only mention that because I know quite a few EDSers who have conditions relating to executive functioning difficulties (autism, ADHD, NVLD, etc.). It's been a high enough percentage that I really wonder if there's something linking them.

    I use a walker indoors and wheelchair outdoors. I started out with a manual wheelchair, but now I mostly use a powerchair because I ruined my, already bad, shoulders with the manual chair (bought 5 1/2 years before I got my EDS diagnosis).
     
  13. Cierese

    Cierese Mouseketeer

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    I'm one of those that have started to think that as well. Both my boys are on the spectrum, SPD, ADHD as well)
     
  14. KPeveler

    KPeveler Moderator Moderator

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    I am another with ADHD, sensory issues, and social issues relating to body language and other non-verbal queues. I also have anxiety that manifests in a variety of ways.

    I believe that there is a type of spectrum disorder which is not something like a combination of ADHD/ADD, sensory processing disorder, non-verbal learning disorder, anxiety, and autism/Asperger's qualities. I do not fit into any "box" nicely and I believe that when you have this many diagnoses with overlapping symptoms, there is often an unknown, undefined, or as yet undiagnosed disorder.

    A friend of mine doing research into the genetics of anxiety and its overlap with other genetic disorders said there is evidence one gene connected to some types of anxiety is on the same gene as the one where hypermobility is found. I will try to find the studies she sent me abd post them here.

    I too use a wheelchair for any distance more than around the house. I use a manual chair. I have a powerchair but I hate it. It is not well fitted to me and I find the shock absorbers are not as good as the vibration reduction I get from my manual chair!

    I am looking at getting an addition for my manual chair like Wijit wheels. They are lever driven wheels which allow better pushing with less shoulder stress (it is more like a push up motion rather than traditional wheeling, plus a host of other benefits). I much prefer manual chairs to other options.

    Anyone else (other than WheeledTraveler) who has had neck problems?

    Also, has anyone ever heard of or experienced hearing loss as part of EDS?
     
  15. WheeledTraveler

    WheeledTraveler DIS Veteran

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    I do know a couple people with hearing loss and EDS. One isn't actually EDS diagnosed yet, but since they couldn't find any cause for the loss when it started, I wouldn't be surprised if it was EDS related (tbh, when I first suggested she look into EDS as an explanation for her overall medical problems, the hearing loss was one of my clues). The other I'm not sure about, but I've had it in my head for years that hers was also EDS related.

    I have a friend with osteogenesis imperfecta (better known as "brittle bone disease"), another genetic collagen disorder, who also has hearing issues. I think hers relate to the **. I don't know, though, whether hers would be bone problems or hypermobility (yes, people with ** are often hypermobile in joints that aren't effected by a nearby bone breaking).
     
  16. Mommee

    Mommee DIS Veteran

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    So far my only neck problems are from vertebrae subluxing from muscle spasms pulling them out of place. My PT Is pretty good at gently getting them back into place. If only they would stay that way! I do have stenosis but it's not causing any issues.

    I have a lightweight transport chair my husband pushes me in for long distances or when my hip is out. I don't have the ability to push a wheelchair, so around the house I use a rollator and scooch around with my feet when needed.
     
  17. Cierese

    Cierese Mouseketeer

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    So, I haven't posted in a while, but its been a BUSY past few months!! Anyhow, it's now official... Myself and ALL 3 of my sweet kids are EDSers. I will chat more later when I get a moment. Today is PT/OT day for my youngest... Hope you all are enjoying your spring.
     
  18. sleepingbean

    sleepingbean DIS Veteran

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    "It's a Small World" popped into my head when I saw this title. Another EDS family, here. Lots of dislocations for one child, and ongoing struggles. We have a great medical team in the Chicago area (Blessing).
    We also deal with food allergies, Celiac, and a handful of other fun EDS related issues, but we're learning.
    Found a FANTASTIC Physical Therapist and I wish we could see him for so much less than it costs through the hospital, but we have 27 sessions per calendar year, so that is good. He's been such a blessing. We have braces and splints that we use when needed.

    Now, back to Disney, as kiddo grows and her connective tissue disorder has increased in severity, it DEFINITELY changes our touring style in the parks. Last trip we had a wheel chair for her because she just can't walk that far. It was a different pace and a different experience, but it was still Disney, so it was still fantastic.

    My brother, sisters, and I all have Hypermobility type (plus POTS), but we didn't know what it was. We were just told we were "hypermobile" and that is why we had joint pain? I don't have the severity that my daughter has. She seems to have an extreme version, but our hope is that with early awareness and ongoing support and exercises, she can do whatever she puts her mind to in life.

    Phew, long intro! LOL
    Anyway, happy to find this thread. Hy Trudy! :wave2:
     
  19. clanmcculloch

    clanmcculloch DIS Veteran

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    DD13 was doing so well for quite a while now. I'm not sure what happened but for the past week she's been having progressively worse pain in the same ankle that was hurting before. This morning it was up to 7/10 on the pain scale which is where she was at when she first started PT and down the road to the EDS diagnosis. We've been icing it in the evening and using her Valoren gel and giving her extra strength Tylenol to make it bearable (she says that brings it to 3/10) but I'm wondering if there's anything else I could be doing. There's no sign of swelling which is unusual for her when she's in this kind of pain. The pain is spreading to her knee which worries me because in the past when she had ankle pain the way should walk due to the pain ended up causing the tibia to shift and push the patella out of place as well. Because she's compensating her other knee is also starting to hurt a bit. I'd love suggestions if anybody has any.
     
  20. WheeledTraveler

    WheeledTraveler DIS Veteran

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    Has she tried a brace, even just a neoprene sleeve one? It's not something she should wear all the time, but I find that compression can help. I rarely swell, but that doesn't mean that there isn't something going on. Is she seeing the PT at all anymore? Since it sounds like it started somewhat suddenly, it might be worth putting a call into her doctor, too. Since it only just started getting worse, any intervention they can suggest to start now would be very useful.

    EDS symptoms can vary with hormone changes, too. That's one reason some women don't present with symptoms until puberty. Weather changes can also mess with pain levels. It's that time of year and if your weather has bounced around this week the way it has in southern NE, then that could be the culprit. Of course if it's weather or hormones, you can't do much more than you already are, but at least it should get better as things stabilize. I would say dropping from a 7/10 to a 3/10 with what you're doing is pretty good consider that it's really not a huge amount of intervention.
     
  21. clanmcculloch

    clanmcculloch DIS Veteran

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    She graduated from PT late January. I think I'd need a new referral to go back but I can definitely get one. I don't need referrals for specialists but the PT said something about authorization based on doctor referral but that might have to do with the fact that she hadn't been diagnosed yet when she first started (PT was originally for an injury that just wasn't healing right).

    She has ankle braces that she used to wear before she got her SMOs. She uses the SMOs whenever she's outside the house and doesn't use anything when inside. I can definitely have her start wearing the braces when indoors. This is the kind she has, one for each foot. There's no point to wearing them at the same time as her orthotics, is there?
    [​IMG]

    Hormones could definitely be a factor. I hadn't considered that or weather. I remember reading that hormones can be a factor but I forgot. Since her problems did seem to really escalate to the point of noticable enough to seek medical care during puberty, it makes a lot of sense that it could be part of the problem. She is PMSing right now. Hopefully if hormones and weather are the cause of the sudden increase in pain this will go away soon. We were in the upper 80s on Sunday and I had to scrape ice off my car windows this morning then I went out for lunch today without a jacket. Yeah, the weather is bouncing around. I knew that could be an issue if you have problems like chiari but I didn't realize it could affect EDS.

    I sure hope this eases up soon. She's going on a class trip out of state in 1.5 weeks. I'm definitely getting her a wheelchair since they'll be walking almost morning to night with only breaking for meals and bus rides so there's no way she could handle that kind of walking but I'd rather she start off pain free.

    I'll see how she's doing when I get home from work. She's spent the day wandering the school with the gel and Tylenol having worn off probably well before lunch so if the pain is back up to a 7 then I'll book an appointment for her to be checked, just to see what the doctor can suggest. Unfortunately she doesn't have a doctor in the area who actually knows EDS. Our primary doctor said she's never had a patient with EDS but she's been reading up and is really good about actively referring to specialists and PT. While that does mean some support, it doesn't mean much knowledge to help out at a moment's notice. In general I think she's kind of approaching the management of the pain like she would osteoarthritis and treating injuries and referring out if something is beyond her knowledge.

    For us, this really is the maximum we do for medication so it feels like a lot of intervention. I think her EDS is still on the relatively mild side compared to so many people I've read about so when she's at her worst I tend to forget that it's really not that bad. She just rarely asks for pain medication or pain gel so when she does, I really take notice. She usually prefers to tough it out without anything even when it's a 5 or 6 but once it gets to a 7 she asks for it. According to her PT she has a high pain tolerance. I had always thought she had a low pain tolerance until the PT explained her pain levels to me but it turned out she just had pain so often that she learned to deal with it.

    Thanks for your thoughts and suggestions!
     

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