Ehlers Danlos Syndrome Thread

chiefmickeymouse

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Sep 23, 2010
We are waiting to be assigned to a geneticist in Oklahoma City since the one here in Tulsa closed his practice. He was the one who incorrectly diagnosed DS as having Marfan syndrome anyway. I was able to get an appointment in January to get him evaluated for POTS, so at least that's one thing done.

The Marfan specialist at Johns Hopkins told us of several specialists we need to see, but I had no idea it would be such a long process just getting an initial appointment. We are now nearly two years in search of a diagnosis, having spent more than a year thinking he had Marfan syndrome. Sooooooo frustrating!
 

Mommee

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Feb 8, 2010
Hi, Leah! What dates? We are also going in February :cool1::cool1: I have a 7-yr. old (almost 8) that also has astigmatism and amblyopia. She either has EDS or another syndrome with hypermobility as a symptom. She has things that aren't seen in EDS, so we're kind of in a holding pattern and just watching her and protecting her joints the best we can.

Unfortunately, chief, I think that's common. Two of my children are in the process of being sent to genetics for an official diagnosis, and the current wait time for new patients here is 1 year.
 

Lilliputian

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Jul 1, 2012
My family is on track for being evaluated for EDS or Marfans or some connective tissue disease. Several months ago, my 2 year old was diagnosed with dislocated lenses. Since then, he's had a lensectomy in each eye to remove his lenses.

The eye doctor is convinced that he must have a connective tissue disease or his lenses wouldn't have subluxated. His geneticist appointment isn't until late January, though, so we're just waiting until then. He did have an echocardiogram before the surgery, and it was fine, but apparently that doesn't clear him of a Marfans diagnosis because he's so young.

My 2 year old is my 5th son. All of them are tall, and my husband is 6'2", but I don't think any of them look like they have Marfans. Their proportions are mostly average (although several of them have longish torsos compared to their legs), and when we have them do the movements you do to screen for Marfans, they all pass.

On the other hand, we do have some vascular stuff going on. I've recently come to realize that some worrisome health symptoms I'd been having for the past year or so are due to low blood pressure and orthostatic intolerance. I've also developed varicose veins, which was a little unexpected since I didn't have them when pregnant and I'm slim. (I am pregnant with #6 now, and my varicose veins obviously haven't gone away.) One of my older children has episodes where his heart beats really fast, and other periods of dizziness. But still, we really don't have any symptoms that stand out as major EDS symptoms. We don't have joint pain or problems with hypermobility. We're slightly stretchy compared to some people, but it's never caused a problem, you know?

Anyway, it's interesting to find a thread like this with so many people with connective tissue issues in one place. I'm trying not to worry too much before we see the geneticist since it's not like we really have symptoms that are plaguing us right now. I see a lot of my family's issues reflected in these posts, but with the absence of clear-cut symptoms that are the hallmark symptoms of a particular disease, I don't know yet if our symptoms are maybe being caused by something else. Every issue we have is also something that can have an explanation that isn't any connective tissue issue (with the exception of the subluxated lenses).
 
  • Mommee

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    Feb 8, 2010
    Hi! I'm curious why the lenses were removed? How does that affect his vision? The ophthalmologist thinks my daughters lenses are subluxing, but she only has issues with her vision fluctuating and certainly removing them was never an option..?
     

    Lilliputian

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    Jul 1, 2012
    Hi! I'm curious why the lenses were removed? How does that affect his vision? The ophthalmologist thinks my daughters lenses are subluxing, but she only has issues with her vision fluctuating and certainly removing them was never an option..?
    Lenses are curved to be placed a certain way. When they move, you're looking out of the wrong part of the curve, and it distorts things. If you wear corrective glasses, try looking out the side of them. You can see that it doesn't work well. Also, one of his lenses had slipped so badly that the edge was in front of his field of vision. You could see him trying to look around it, but he couldn't since it was stuck there.

    I didn't know anything about it until he was diagnosed with the issue, so I'm by no means an expert. We did get two second opinions, though, and all 3 pediatric opthamologists agreed that his lenses needed to come out.

    It didn't exactly help his vision. He's legally blind and then some without his glasses, but at least glasses help now and he can see well. He couldn't see well at all before (and was getting worse), and glasses wouldn't have improved his vision nearly as well as they do now. It's not something to take lightly, but I'm very glad we did it. He loves his glasses, and he's constantly pointing stuff out to me that has been around us before, but he never noticed it before.
     

    Mommee

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    Feb 8, 2010
    Thank you for responding. That is so bizarre! I'm glad it worked out for him. Clearly my daughter's aren't moving to that degree! She was blind in one eye (and could see blurs out of the other) before having her lids fixed (they covered her pupils and her brain had quit responding to the signals from that eye) and I know I cried the first time she saw a butterfly. This is my daughter that we don't know what's going on yet. We just had whole exome sequencing done but it will be spring before results are in.
    I know there are a ton of disorders involving the connective tissue. I hope you find answers fairly quickly.
     

    chiefmickeymouse

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    Sep 23, 2010
    Anyone else have awful problems with their feet? DS17 is diagnosed and his arches have totally collapsed. He has major orthotics and his feet hurt when he walks. DD14 hasn't been diagnosed but has similar problems with her feet. She doesn't have other EDS signs. Now I'm wondering if she needs to see a geneticist too.
     
  • goofieslonglostsis

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    Nov 23, 2007
    Chief, since it is a genetic syndrome, checking the entire family is smart, especially since not all will have (organisatie notice) symptoms from day one and it comes in all kinds of ranges from extremely mild to very heavy. Even when very mild, knowledge is power. Knowing what to do and not, what risks there are can keep issues at bay for those on the milder part of the spectrum.

    DS; is the pain corresponding to using the orthotics? That can cause pains when starting out, when forced to use feet in a normal but for that body "new" way. That tends to wear of over time, ik need be with using a built up schedule for using the orthotics. Most will have issues, but after a while find they have more pain without! Which can influence more than just feet, since aniet issue there can negatively impact other leg joints, pelvis, back and even neck by for instance having and altered posture due to (trying to prevent) feet pain.

    Sometimes it can be a compromise between multiple issues. Where not aiming for the "perfect" foot position reduces pain the best for here and now but also corrects enough not to cause major issues longterm. Also very important is how imprints are made. Weight bearing gives good info about the issues but poor starting point to make insoles from, for instance. Non weight bearing is best to used to make custom insoles, orthotics etc but lack the info of weight bearing (where dislocations and subluxes can occur) and can be manipulated if one uses any "force" to manipulate during drying (unconciously causing sublux, lux or movement of bones, also risk when having plaster put on etc). So it does take a combination of techniques and skills to work with these issues that can be conflicting.

    Many find walking on the beach a relieve, the sand constantly adapts itself. This can be used for therapy also ;-) .

    Also the aid of insoles have been questioned sometimes for those that walk little or none. A larger than "normal" number have found benefit though, even when feet are only resting on the ground or feetrest. That "force" is enough to manipulate for those and thus benefit from insoles. Lower degree bute also found for those combining it with orthotics.
     

    chiefmickeymouse

    Sarcastic, silly and socially awkward
    Joined
    Sep 23, 2010
    Chief, since it is a genetic syndrome, checking the entire family is smart, especially since not all will have (organisatie notice) symptoms from day one and it comes in all kinds of ranges from extremely mild to very heavy. Even when very mild, knowledge is power. Knowing what to do and not, what risks there are can keep issues at bay for those on the milder part of the spectrum.

    DS; is the pain corresponding to using the orthotics? That can cause pains when starting out, when forced to use feet in a normal but for that body "new" way. That tends to wear of over time, ik need be with using a built up schedule for using the orthotics. Most will have issues, but after a while find they have more pain without! Which can influence more than just feet, since aniet issue there can negatively impact other leg joints, pelvis, back and even neck by for instance having and altered posture due to (trying to prevent) feet pain.

    Sometimes it can be a compromise between multiple issues. Where not aiming for the "perfect" foot position reduces pain the best for here and now but also corrects enough not to cause major issues longterm. Also very important is how imprints are made. Weight bearing gives good info about the issues but poor starting point to make insoles from, for instance. Non weight bearing is best to used to make custom insoles, orthotics etc but lack the info of weight bearing (where dislocations and subluxes can occur) and can be manipulated if one uses any "force" to manipulate during drying (unconciously causing sublux, lux or movement of bones, also risk when having plaster put on etc). So it does take a combination of techniques and skills to work with these issues that can be conflicting.

    Many find walking on the beach a relieve, the sand constantly adapts itself. This can be used for therapy also ;-) .

    Also the aid of insoles have been questioned sometimes for those that walk little or none. A larger than "normal" number have found benefit though, even when feet are only resting on the ground or feetrest. That "force" is enough to manipulate for those and thus benefit from insoles. Lower degree bute also found for those combining it with orthotics.
    DS has pain without the orthotics and walks with his right foot turned almost completely out. It was causing problems with his knees. The orthotics were cast non-weightbearing. I think he needs to take more short walks with the orthotics. I feel so bad for him, it shouldn't have to hurt to walk! DD seems to be adapting to her orthotics better than her brother, but I think we caught her problem earlier, at 14 instead of 17.
     

    chiefmickeymouse

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    Sep 23, 2010
    DS was diagnosed with POTS at the cardiologist yesterday. Started beta-blockers today. He says his stomach is upset. I know a few on here have POTS, does the medication make you sick to your stomach? I looked up the side-effects and it wasn't listed as a major one. It's atenolol. Thanks.
     

    Cierese

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    Feb 1, 2011
    DS was diagnosed with POTS at the cardiologist yesterday. Started beta-blockers today. He says his stomach is upset. I know a few on here have POTS, does the medication make you sick to your stomach? I looked up the side-effects and it wasn't listed as a major one. It's atenolol. Thanks.
    My DD12 and I both have POTS, but neither are currently on meds. We just try to stay over hydrated, keep electrolites in check, and increased salt intake. Cardio told my daughter to drink and insane amount of water/gatorade. I will say, she doesn't have as much issues if she does that. I was on meds twice before, but didn't last long because of pregnancies. Waiting to see what cardio wants me to do now....
     
  • goofieslonglostsis

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    Nov 23, 2007
    DS was diagnosed with POTS at the cardiologist yesterday. Started beta-blockers today. He says his stomach is upset. I know a few on here have POTS, does the medication make you sick to your stomach? I looked up the side-effects and it wasn't listed as a major one. It's atenolol. Thanks.
    Side effects aretoo personal, never ever something to generally compair, instead always something to have looked at and judged with the individuals medical history and factual finding op lack there off of side-effects.

    And again, something that has to be judged on the individuals level always, but if beta-blockers are on the table it can be smart to look into one called celiprolol. Research has shown it decreased cardiovascular incidents in those with vascular eds. NOT researched in other types and beta-blokkers like most meds come down to personal reactions, but within positive factors (as in not having worse side effects than with other bb's etc ) it is becoming a carefull preferential choice by some cardiologists to use in all types if bb's are indiated anyway, whereas with vascular it is the golden standard to prescribe preventative unless found contra-indications. Research can easily be found through pubmed etc. While out for some years, many cardiologists arent aware yet as it is impossible for anyone in the medical profession to read up on all research and publications in their field. Most are very willing once pointed out to read up and take it into the equator.

    Be aware of the risks of bb's though! It can decrease both heart rate and blood pressure easily, which can worsen those related pots symptoms. Can be a very carefull balance for instance with the combination of veds, cardiovascular history and pots. Very common reason for many on all types to end up on minimalized dose or not at all.



    Stomach upset is vague, too vague. If remembering correctly your DS is no youngster anymore, which is most difficult since so many things for them equals stomach blegh. Unfortunately that also to a lesser extent goes for teens and adults. Ranging from feeling as if needing to puke, to pain (where maken huge differences), to it being how someone words and/or feels when just feeling (very) unwell and many other issues. For some that unwell feeling is how their body behaves with a low heart rate or blood pressure. So important For him to learn how his system works and if not sure might be wise to just have a quick check of bp and hr to make sure that isnt the feeling, which would be reason to not wait it out but talk it over with cardiologist if alteration or coming in early might be smart. I'm one of those that just feels a bit under the weather, noticing that as mostly stomach blegh. Found out during a regular check up at the cardiologist. Since than learned I also get a heavy sensation in my neck/back of head but that was a learning curve. Somehow I notice zipp till dropping to very bad numbers, but others I've spoken that notice a drop by stomach blegh will get that feeling at a significant but yet still limited and safe drop.

    If ANY questions or uneasiness about side-effects, always communicate them with the prescribing doc and dont wait till next appointment, but call, mail or alike. Luckily most times its things they can ease worries and solve questions, perhaps even offer tips to reduce or knowledge when it should subside. If it does require an alteration or quicker visit, they will also pick up on it. Very low level "input" but great easy result that actually helps.


    If any issues with significant reduced stomach and/or bowel motility, that can also has effect on how the body deals with beta-blockers as with all medication that need the gi-tract for its intake. Something none gi specialists dont always are one the look out for and have somewhat of a higher incidence in eds, so reckoned I mentioned it in case the info ever comes in handy. Once pointed out, most specialists incl cardiologists become aware of alteration issues that causes with medications.
     

    leahlefler

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    Aug 6, 2014
    Hi, Leah! What dates? We are also going in February :cool1::cool1: I have a 7-yr. old (almost 8) that also has astigmatism and amblyopia. She either has EDS or another syndrome with hypermobility as a symptom. She has things that aren't seen in EDS, so we're kind of in a holding pattern and just watching her and protecting her joints the best we can.

    Unfortunately, chief, I think that's common. Two of my children are in the process of being sent to genetics for an official diagnosis, and the current wait time for new patients here is 1 year.
    We are going to be there from Feb. 22 - Feb. 28 (departure day). I can't believe it is starting to get close!!
     

    Mommee

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    Feb 8, 2010
    We will be there that whole time. If you find out you have a zebra (EDS) and would like to meet some others, pm me and we'll figure something out :). Good luck at the geneticist!
     

    balcerfamily

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    Jan 2, 2014
    Family of Zebras here.....My two oldest sons (18 and 17 years old) and my daughter (5 years old) as well as myself are officially diagnosed. We are awaiting diagnosis for my 3 year old son.

    We all have EDS-HT with vascular crossover and multiple co-morbids (dysautonomia, GI issues, MCAS for two of us, etc)

    We did two Disney trip last year, and have two planned for this year, and Disneyland Paris next year. I would be happy to help and share what helped us if anyone has any specific needs. We LOVE Disney!!!
     

    chiefmickeymouse

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    Sep 23, 2010
    Thanks for the info. DS isn't a youngster, he just turned 18. His heart rate goes up to about 130 when he stands up, so a lower rate isn't a big problem. The stomach upset seems to have settled some, but he's sleepy a lot.
     

    chiefmickeymouse

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    Sep 23, 2010
    We went to geneticist number three last week who concurred with the diagnosis of EDS type 3. They also tested him for homocystinuria and suggested he might be on the Autism spectrum. Ouch, that was hard to hear, especially after all of the doctors we've seen over the years and no one else has mentioned it. He's been accepted into his first choice college, and I'm hoping he'll be able to handle it with all of the physical and mental issues. I'm considering asking him about doing the first year part time. It is near home, so he can keep all his doctors and maybe even live at home.

    We haven't heard back about the blood test yet and we are continuing on with the boatload of specialists he sees. I want him to have all the support we can get him. Anyone else with a EDS kid transitioning into adulthood? It's a scary time.
     

    lizard1

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    Apr 24, 2012
    I have been wondering recently if I have EDS (2 of my siblings do, so it is a possibility). Neither of them were diagnosed until they were in their 30's, so I suppose that it is possible that I also have it and never knew it. I know my one sibling has a lot of problems with their back and has had surgeries to try to help with the pain (that haven't helped). I think that I have similar issues to them, since I was also diagnosed in my early 20's with degenerative disc disease and spondylolysis. I also have really bad issues with my feet and the arches. I have been considering whether or not I should get tested for EDS. What I'm wondering is if there is any benefit to having the EDS diagnosis or if the diagnosis is just putting a name to the cause of the issues one has. Currently, I just deal with my daily pain....I have had chronic back pain for 15 years. Is that something they would treat differently if I had an actual diagnosis (part of the reason I just deal with it is because I have tried a couple dozen different medications, PT, pain management, etc. and NOTHING has helped at all)?

    For those of you who have EDS, is it worth having an official diagnosis and does it help doctors with finding ways to manage symptoms?
     

    Glittercat

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    Dec 5, 2010
    @lizard1 wishing you lots of luck!
    As for me I was experimented (surgeries) a lot as kid, and if they had even suspected EDS I think it might have saved me from some of those operations, and just maybe I wouldn't be in a wheelchair now. Who really knows though. Shriner's took me in, studied me for a couple of weeks, video taped the way my joints move, and wrote about my case in a medical journal. =/ All of us kids had to do some of the teaching seminars in a small amphitheater and for me I would sit on a table whilst Doctors would bend my hands back, another my foot behind my head, etc. all at the same time. Hopefully from that medical students learned a little about hyper mobility- at the time though I just felt like an Alien, and still do actually.

    If you are having loads of troubles with your body and pain, and already have a family history, it is reasonable to suspect EDS. Diagnosis is important for 3 reasons (in my opinion I mean)...
    #1 the medical community can learn more about this syndrome
    #2 Doctors may be able to help you mange your pain better if they know what it stems from
    #3 you put a face to something that not everyone knows exists (Zebra's instead of horse's)

    May is Ehler's Danlos Syndrome Awareness Month so be zebra strong and show your stripes! I have a fair few pins on EDS scattered through this board... https://www.pinterest.com/ms_rebecca/adaptability/
     

    Mommee

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    Feb 8, 2010
    There's also surgical complications that can occur, aneurysms, heart issues, etc., that the doctors won't know to look for if they don't think you have EDS. When I went to the ER with sever pain in the mid to lower abdominal area, they looked for internal bleeding and then a dislocated hip. THEN they looked into other causes. (It was appendicitis). I would hate to have a dissection and they don't look for it right away because they don't realize I'm at a higher risk of it happening.
    I am now a part-time wheelchair user because of surgery. Even knowing I had EDS, the surgeon put my leg in traction for almost three hours. It stretched the ligaments making my hip even more unstable than it was before. It damaged the tendons in my ankle (where the traction boot pulls) and I now have to wear rigid foot braces that keep my ankle from turning. I went through 4 shoulder reconstructions before it became clear that I had EDS and we were wasting our time. EDS isn't just about excess movement in joints--the tissues stretch beyond their capability and become damaged.
    My c-section incision came wide open 4 days after my daughter's birth because they didn't know to use extra stitches and leave them in longer. My wisdom teeth stitches pulled right through the gums because they stitched them normally. My carpal tunnel stitches also ripped through. All of those could've been avoided if I had been diagnosed and proper protocols followed.

    Physical therapy is also different for EDS. For example, traction for the back or neck would be avoided, as would joint manipulation. Exercises that stress vulnerable joints would need to be avoided to prevent creating new injuries, etc.

    So, yeah. Things need to be done a bit differently if you have EDS. life needs to be lived differently, too, if you want to avoid making things worse.
     


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