Ehlers Danlos Syndrome Thread

[homeschoolmomof4]

Hi! Another EDS family here. We got our diagnoses in a backward manner. My daughter and I were both seeing an incredible PT and she was the one who put the pieces together and thought that we had EDS. She recommended a rheumy for my DD(because she was worse off at the time) who farmed DD out to many specialists in an attempt to make sure we got an accurate diagnosis. With all our reports in hand, DD was diagnosed with EDS3 at Children's in DC and, because of our family history, the geneticist suggested that my mother, myself and now deceased grandmother all had it as well. All my doctors(and it seems there are a ton of them) and all my mother's doctors(a boatload for her as well) all operate under the assumption that we have EDS3, based on our symptoms and my daughter's diagnosis. For insurance purposes, my mother and I have not and probably will not get a formal diagnosis unless it becomes absolutely necessary. None of my boys appear to have EDS. In our family, it has only been the females that have been symptomatic with our symptoms becoming much more evident at puberty. The miscarriage rate in the family has been quite high. My grandmother had at least 10 miscarriages and two preemies. After many miscarriages, my mother was only able to have me. I was able to have 4 children, but they were all early as a result of PROM. The amniotic sac is apparently made of collagen fibers so ours is pretty common story. DD is probably the most symptomatic of the 4 generations and has decided that she will adopt children someday as she doesn't want to pass on this condition and she's not even sure she would be able to carry to term. Now, enough of the bummer diagnosis information! Moving on to some fun stuff!

My mother, daughter and I will be going to Disney World this coming January so it should be an EDS Princess Adventure! We're all three huge Disney fans so it should be a fantastic girls only trip! Because all three of us have EDS, it will be a different type of trip than others we've had with the boys. We are looking forward to lots of Princess meet and greets, Princess character meals and wearing princess tiaras! We're also planning on doing the Wishes Dessert Party to avoid the masses and Sparkling Illuminations Party as well to avoid getting run over as well. The tallest of us is just over 5 feet tall and I'm not even 5 feet tall so we always run the risk of getting run over so we've decided these dessert type parties might be a good thing for us! LOL!

 

[WheeledTraveler]

For insurance purposes, my mother and I have not and probably will not get a formal diagnosis unless it becomes absolutely necessary.

If your concern is because of insurance premiums, health insurance companies can no longer deny or raise premiums for pre-existing conditions. It's still not necessarily worth getting diagnosed if you don't need to, but I wanted to make sure you knew it certainly won't make a difference for health insurance.

As far as numbers of men compared women with EDS, I think men are under-diagnosed (I think EDS in general is under-diagnosed, but especially in men). There are hormones found only in women that cause things like joint laxity for ease with natural childbirth. There are also plenty of societal pressures that discourage men to seek help when they are having problems. Finally, men (or anyone) who have family members with EDS and do have EDS symptoms are probably only going to get diagnosed if those symptoms start causing problems. My brother is that way. He clearly has EDS (for straight hypermobility he has more than I do, but without the pain or dislocations), but until it actually impacts his life he's not going to bother to get diagnosed.

 

[Mommee]

Hi to everyone

Our geneticist said that some men tend to not be as symptomatic because they have more muscle to keep the joints in place. My oldest is quite bendy but has very few problems except in his hands.

homeschool-it was my PT, too, that figured out something was up. Unfortunately he's no longer there and I'm lost. I thought I found a new one that understood, but then day 2 of PT came yesterday and she had me doing so much despite my objections (all the while telling me how easy she was working me) that I came home and collapsed and cried. Today I went back to bed after the kids went to school and slept three hours straight. So I don't know what I'll do.

clan-my youngest gets pain any time she goes more than a couple days without her orthotics. Any chance your daughter has been on spring break recently and not wearing her smo's as often? Also, I have ankle pain and the bracing wasn't helping. I was sent to a wonderful guy that knew nothing of EDS. So, he called some contacts that did, and he ended up casting me for what are called UCB shells. Apparently my feet are so hypermobile and turned inwards that ankle braces don't support me properly. Bracing the foot into its proper position takes a lot of stress off the ankle ligaments. The foot braces are built up on the outside edge because when he straightened my feet they weren't flat to the ground anymore. They go up to just below the ankle bones and cup the entire back of the foot, stopping just before the toes. They are extremely rigid so it took a few weeks of building up to it, but now I can wear them most of the day. Anyway, just a few thoughts

 

[clanmcculloch]

My DD hasn't started spring break yet. I'm actually pretty worried about spring break because she's going on a school trip where they'll be go-go-go from the time they get up until they crash at night. I'm sending a wheelchair for her and I've talked with the nurses who are going along but I can't help but be nervous for her. Of course I've also got the anxiety of her dining without me for 6 days with her long list of food allergies & intolerance. I'm going to be a basket case by the time she gets home. She'll be wearing her running shoes the whole time therefore her SMOs. At home, she really doesn't wear them much on the weekend even though I remind her. Heck, I can't even get her to wear her elastics on her dental braces.

I googled UCB orthotics and DD13's SMOs are similar except they extend up higher to the ankle. They are visible over the edge of her shoes. The UCB looks to be a foot orthotic while the SMO is foot and ankle. I wouldn't have been able to get my insurance company to pay for UCBs but they did pay for SMOs because it's for the ankle. They were custom molded to her feet and ankles. I'm not actually sure she needs the ankle support part of it but without it insurance would not have paid as foot orthotics are excluded by most policies unless it's for diabetes (yeah, that makes sense, NOT). Like you, she needs the foot support to align her legs properly.

Her pain did seem to disappear just as suddenly as it appeared. I really don't understand how that's possible but it's what happened. Probably hormones like WheeledTraveler suggested. I wish there was some kind of black and white instruction manual to go along with all this.

And now back to figuring out my other DD's issues. It seems she's been having a lot of leg pain as well, especially on stairs (even just a single flight). She is out of shape so I've been kind of ignoring her despite having a high enough Beighton score to get an EDS diagnosis. With her autism, minor pains tend to be earth shattering and major ones tend to not register until they're extreme. I've been treating her complaints of leg pains as the former but now I'm wondering if they've gone into the latter category. She's never had any kind of injury so I never followed up. Well, it seems that the pain is worse than I've been acknowledging. UGH!! I have to wait until she's done with a round of antibiotics because she currently has strep and for her one of the symptoms of strep is leg and joint pain so I need to see where she's at after it's cleared up. She never presents in any way the way textbooks say she should so I never know what to make of her symptoms. UGH again!!

 

[Mommee]

Ugh bad day lol. I totally misread your post and thought the photo was what your daughter had now. So she doesn't have the EDS diagnosis? My insurance also doesn't cover foot orthoses except for diabetes, but they billed it with the EDS code and it was approved.

 

[Mommee]

Ugh bad day lol. I totally misread your post and thought the photo was what your daughter had now. So she doesn't have the EDS diagnosis? My insurance also doesn't cover foot orthoses except for diabetes, but they billed it with the EDS code and it was approved.

Ok I just googled smo. It does look similar except mine stops right below the ankle bone (so still sticks out of the shoe and I think mine is much more rigid because there's no way I can pull it open. I have to turn my foot sideways to get it in. The photos of the UCB I'm seeing aren't quite as substantial as the ones I have. But in the future I'll ask about making me an AFo then cut it down if my insurance changes.

 

[clanmcculloch]

My 13yo has an EDS diagnosis but she actually got the SMOs before we had the diagnosis. Her PT recommended them and I got our GP to write the order for them so that insurance would cover them.

My 16yo was given an EDS diagnosis by her primary but it was just a tentative diagnosis since she was really only borderline on the Beighton scale (based on the GP's tests; I disagreed with her on a couple measurements). She hadn't had any EDS related problems that we noticed at that point though so I never actually followed up. I think now I need to. I just need to wait until I'm sure the strep is gone before approaching figuring out the pain issues because the same kind of pain also goes along with strep for her. Once she's finished her antibiotics I'll probably make an appointment to get her retested for strep to make sure it's actually gone and at the same time discuss the pain with the doctor.

 

[sleepingbean]

We are struggling with shoulder dislocations here this week.
Not good. Not fun. brace --> immobilizer --> physical therapy
and repeat.
Still, this is better than surgery, so I should be counting blessings.

 

[clanmcculloch]

Her shoulder dislocated again? Does the PT have any recommendations for her to help cut down on how often this happens? I remember you were very optimistic about the approach of this particular PT.

 

[sleepingbean]

Yes, the PT is great. He really is and if we had unlimited funds, we could keep her in regular 3x a week appointments with him year round. Unfortunately, his bill is usually around $465 per session (he's in a hospital and everything is expensive) so we have to be particular about how we use our 27 sessions (insured) a year. We have home routine the rest of the time and she DOES do her exercises, but not to the work out degree that she does in PT with her therapists. She really gives her best when working with him. Her shoulders dislocate pretty often, it seems, but mostly she pops them back in and she stays put. About 2 times a year, it seems, she has instability and ends up in a brace as well as through the runner with xrays, mri's, doctor visits and tests.
This time, she is doing really good at home and I am thinking it's looking positive (I think it's going to stay in for good).
She dislocated a lot at school, and part of that is just getting bumped in hallways. They have safety protocols that they implement for her and she will be very careful when she goes back.

 

[sleepingbean]

Did anyone else read the Ehlers Danlos review of fastpass in the passporter newsletter? My eyes bugged out when I saw that. Yay for raising awareness.
I am sharing some products we have used on a blog, just in case they can help anyone else. Something new that I'll add to. I know we have struggled through trial and error and other people's suggestions have helped us out a ton!
Hoping to give it back a little
http://ehlersdanlossyndromehere.blogspot.com/

 

[sleepingbean]

http://www.passporter.com/articles/disney-disability-access-card-review.html
That is the article

 

[Mommee]

Aha sleepingbean--So now I know maybe why the sling wouldn't work-they're posterior dislocations! Mine are inferior or anterior. Occasionally anterior/superior on the left thanks to a 180- labral tear, but never posterior! I'm curious-does that vest thingie do anything to help keep the shoulders in socket, or does it only help with scapular control? I have a half-vest thing that was supposed to help the scapula, but it pulled my shoulders back to the point that the humerus would pull out forward.

I actually went looking for this thread the other day and didn't see it?

 

[sleepingbean]

The vest thing (the s3 ) may help, but I can't report as it was too big to work properly for my kid. By supporting her scapula, that can help prevent posterior dislocation, but it didn't fit across that area properly, so that wasn't working for her.
We are working toward getting something custom made for her (fingers crossed)

 

[Cierese]

Did anyone else read the Ehlers Danlos review of fastpass in the passporter newsletter? My eyes bugged out when I saw that. Yay for raising awareness.
I am sharing some products we have used on a blog, just in case they can help anyone else. Something new that I'll add to. I know we have struggled through trial and error and other people's suggestions have helped us out a ton!
Hoping to give it back a little
http://ehlersdanlossyndromehere.blogspot.com/

No.. I hadn't seen the post until you shared it. That's cool. We've used the DAS in Oct and June for my son since he is the worst of us all. The best part I found out a few weeks ago was that I held onto the card we got in Oct, just so I could show them THIS is what we need for him.. they didn't ask a single question this time.. just scanned the code and printed a new one! Needless to say, I'm hanging on to the one we got for our next trip in hopes that it will be that easy again. But YES! IT works so great! Plus it helps to get the red tag for his stroller as well. Not sure what we'll do about that next time though, he'll be about grown out of it by then.

I do want to add though that the info is a tad outdated on the site. I realize it was written this year and only a few months ago, but the cast members have a stamp they use instead of their initials now.

 

[chiefmickeymouse]

Hi everyone, I'm so glad to see this thread. DS17 was just diagnosed a couple of weeks ago during the Marfan family conference. The geneticist here diagnosed him clinically with Marfans last summer. We weren't satisfied with his opinion so we took him ti dr. Dietz at Johns Hopkins and he says it's EDS, hypermobility. This was good news because I feel we can relax a little bit about his heart. He has been seeing a cardiologist, and will continue to do so.

He has the problems with his feet that I see some of you share. He is getting custom orthotics next week. He has also torn cartilage in his knee and had eye surgery to correct the muscles in his eyes. He has joint pain, mostly in his knees and back, and feels faint when he stands up.

Dr. Dietz recommended he go on beta blockers, have a PT develop a work out plan for joint protection and that he should regularly over-hydrate.

DS also suffers from anxiety and depression, which I read is common in folks with this type of EDS. I don't know if anyone else in the family has it. DD and I are both bendy, but she hasn't got the extreme stretch marks or joint pain her brother has.

Again, great to find you all here!

 

[goofieslonglostsis]

CMM; its not specifically eds but rather having a chrinicall illness or disability that has an increased risk of depression and other mental health issues. Simply put; fearing what a futyre might bring, realisibg one needs to revisit their ideas about life, future, hopes and dreams. That in itself doesnt have to be a negative thing, but does trigger the "half empty glas" for most before it becoming "glas half full".

Been there, done that. Deep depression, looking back triggered by my own way of thinking, dealing with etc. Held myself hostage with "cant work anymore". Having wrongly labelled work with core values I found a must have for life quality, it was no wonder I ended up where I did. Had to shift my focus from what isnt or cant to what is and can. Even the most healthy person has a big enough cant and isnt list and will be in a dark place if making life about that.

I had to re-examine my believes and labelling. Realiae I labelled work as a vehicle to stuff like "self development" etc. but there are many other vehicles to fullfill those needs that do fit my physical abilities. Needed to get over myself on this subject and do what I did with all those other aspects in life and health: focus on what us and can and work with those.

Back than I basically had loads of physical abilities, looking back. A decade later I have much less physical abilities, happen to be one of those on the very bad part of the eds variety scale. But much more important: have learned what huge influence I have on how I view my life, how I live it and as a result: influence the quality of my life. Result; a much happier person and would rate my overall quality of life higher now than I did back than. Which ultimately is the most important imho, how one feels and values, not just facts or health stats.

Its a common comorbidity in general and sons age isnt the easiest. One that already comes with big luve questiins, higher risk of depression etc. Good thing about this all; it being so common has lead to good insight into how to treat and work on preventing relapse. Depending on severity of his depression and physical issues there can be options within the medical psycology (more knowledge and experience with issues related to health/disability than general psych) or physical rehab. The latter combines physical and mental, since both are connected and do influence. They are heavy programs though and ask a lot on both parts. A reason why theyll want to ***** if someone has the abilities for it. Sometimes it is best to first work on mental before doing rehab. Not because they think someone is faking but because it is so demanding. Very worth it though, on both parts.

 

[goofieslonglostsis]

With regards to the marfan to heds: what made first doc think mfs? Most of the times that gets triggered by cardio and/or vascular issues in ones medical history. If so; are you aware of vascular eds? Has some likings to mfs. Since all have some overlap of symptoms, diagnosing right type can be difficult. Many with heds will have some overlap with veds symptoms but not have veds and some (lot less than heds though) end up having their diagnose having to be altered from heds to veds.

If there were cardiovascular issues that made them think mfs, it is adviced to have a check up of heart and main vascular system.

If veds (again; most are heds), research has shown one specific betablocker called celiprolol to decrease risks of cardiovascular complications like anuerysm, ruptures etc in those with veds. Most cardiologists are not aware of this research since much more gets published rhan one could ever keep up with, it having limited amount of publications and veds being never or once in a lifetime case for most cardiologists. Good results though and good scientific testing, though limited group. As such most cardiologists are open to this but pointing it out is needed

 

[chiefmickeymouse]

CMM; its not specifically eds but rather having a chrinicall illness or disability that has an increased risk of depression and other mental health issues. Simply put; fearing what a futyre might bring, realisibg one needs to revisit their ideas about life, future, hopes and dreams. That in itself doesnt have to be a negative thing, but does trigger the "half empty glas" for most before it becoming "glas half full".

Been there, done that. Deep depression, looking back triggered by my own way of thinking, dealing with etc. Held myself hostage with "cant work anymore". Having wrongly labelled work with core values I found a must have for life quality, it was no wonder I ended up where I did. Had to shift my focus from what isnt or cant to what is and can. Even the most healthy person has a big enough cant and isnt list and will be in a dark place if making life about that.

I had to re-examine my believes and labelling. Realiae I labelled work as a vehicle to stuff like "self development" etc. but there are many other vehicles to fullfill those needs that do fit my physical abilities. Needed to get over myself on this subject and do what I did with all those other aspects in life and health: focus on what us and can and work with those.

Back than I basically had loads of physical abilities, looking back. A decade later I have much less physical abilities, happen to be one of those on the very bad part of the eds variety scale. But much more important: have learned what huge influence I have on how I view my life, how I live it and as a result: influence the quality of my life. Result; a much happier person and would rate my overall quality of life higher now than I did back than. Which ultimately is the most important imho, how one feels and values, not just facts or health stats.

Its a common comorbidity in general and sons age isnt the easiest. One that already comes with big luve questiins, higher risk of depression etc. Good thing about this all; it being so common has lead to good insight into how to treat and work on preventing relapse. Depending on severity of his depression and physical issues there can be options within the medical psycology (more knowledge and experience with issues related to health/disability than general psych) or physical rehab. The latter combines physical and mental, since both are connected and do influence. They are heavy programs though and ask a lot on both parts. A reason why theyll want to ***** if someone has the abilities for it. Sometimes it is best to first work on mental before doing rehab. Not because they think someone is faking but because it is so demanding. Very worth it though, on both parts.

He is seeing a therapist and has a psychiatrist for medications. Neither really know anything about EDS. It has been a real challenge finding a good medication for him and we had a really hard year last year. He is stable right now, but gained a bunch of weight as a side-effect of one of the medications he tried. This is bad for his joints, he knows and is trying to get the weight off. So far his pain levels haven't required any narcotic type drugs, so we're thankful for that.

Despiteall this, his grades are very good and he is planning for college (he'll be a senior this year). He wants to be a doctor, but I am not sure if he will physically be able to deal with the stresses of completing a medical program. He is such a kind, sweet, smart kid. I feel so bad that this is happening to him. I know it is important to keep positive for him. We are going to see his family practice doctor this week to tell her the results from Johns Hopkins and hopefully get things rolling for physical therapy and a "tip table test" the geneticist thinks he should do.

Thanks for your advice and words of wisdom.

 

[chiefmickeymouse]

With regards to the marfan to heds: what made first doc think mfs? Most of the times that gets triggered by cardio and/or vascular issues in ones medical history. If so; are you aware of vascular eds? Has some likings to mfs. Since all have some overlap of symptoms, diagnosing right type can be difficult. Many with heds will have some overlap with veds symptoms but not have veds and some (lot less than heds though) end up having their diagnose having to be altered from heds to veds.

If there were cardiovascular issues that made them think mfs, it is adviced to have a check up of heart and main vascular system.

If veds (again; most are heds), research has shown one specific betablocker called celiprolol to decrease risks of cardiovascular complications like anuerysm, ruptures etc in those with veds. Most cardiologists are not aware of this research since much more gets published rhan one could ever keep up with, it having limited amount of publications and veds being never or once in a lifetime case for most cardiologists. Good results though and good scientific testing, though limited group. As such most cardiologists are open to this but pointing it out is needed

They originally thought Marfans because he is 6'6, has loose joints, terrible stretch marks, easily injured joints, strabismus and completely flat feet that supine extensively. His father is very tall too. He has regular cardiological work-ups with a pediatric cardiologist who specializes in genetic disorders
and his aortic root is not dilated, which is the big cardiovascular complication for Marfans.

The geneticist in our town said Marfans, even though DS doesn't have either the enlarged aortic root or lens dislocation of the eye. This was why we questioned the diagnosis. He closed his practice after our second visit and there is currently no geneticist in our town. The doctor he saw at Johns Hopkins is the doctor who discovered Loweys-Dietz (sp?) another related connective tissue disorder. He also examined my son's echocardiograms and told us the aortic root is normal, so that was a huge relief.