EDS questions

[clanmcculloch]

I know there are several of you on these boards who live with EDS so I'm hoping you would be willing to take a few minutes to help me understand a few things. I'm not sure if what we're dealing with is EDS or something else or maybe EDS and something else. I'm just not sure what to think.

Our primary doctor does not know anything about EDS so she's no help. When I asked her about it, she said she had to look it up before she could discuss it with me because since med school she has not had any dealings with anything to do with EDS. She's a really good doctor but not helpful on the EDS front.

She did agree that based on the Beighton scale that she'd give a tentative Dx of EDS but that's as far as she'd go. We disagreed on the angle of her knees and pinkies; she said they're a dregree or two from being diagnostically significant (she says pinkies are exactly 90 degrees while I think they're more like 100 degrees and she says knees are exactly 180 degrees while I think they're more like 200 degrees though she gave the tentative diagnosis based on the pinkies being close). Sigh.... She definitely has hypermobility in her shoulders and elbows and it was her GI doctor who first got me googling about hypermobility syndromes because of commenting on some of the freaky things she can do with her arms.

Anyway, I have questions regarding both of my girls. Can any of the following in any way be related to EDS or any other collagen or connective tissue disorders?

Neither of my girls has ever dislocated any joints. Well, actually, DD15 did dislocate her elbow once when she was a toddler but it was an unbelievably common type of dislocation in toddlers so I don't count that. Is it possible to have EDS without dislocations?

How would a joint subluxation be diagnosed? Can a subluxation correct itself in time or does it need to be set the same as a dislocation? DD12 is constantly hurting her feet and ankles but over time with rest, ice and ibuprophen they do heal themselves with no need to set them. This most recent time the doctor did do an xray to rule out a fracture (she never thought a dislocation was possible) so I'm assuming a subluxation would have been seen? The xray wasn't done until she was almost a week out from the original injury.

Is there any connecton between tendonitis and/or bursitis and EDS or other connective tissue or collagen disorders?

If the score on the Beighton scale is under 5, can a person still have EDS?

DD15 gets these aura-like episodes. A neurologist called them visual migraines but I don't buy that. What happens is that this "aura" (that's my term, not hers) is like a whole lot of spots around the peripheral of her vision that sometimes get so bad that she's actually lost the ability to see at all during the couple minutes before it passes. It doesn't always get this bad. It really varies between episodes but most times it comes close to the spots blocking most if not all of her vision. There's no pain when it happens but it's obviously disturbing. A couple times she's lost balance during an episode (only eposides where the spots completely block her vision) though she managed to grab something/someone so she didn't fall. She's never had any kind of tests done during an episode, not even blood pressure, because we don't know what triggers them so therefore can't predict when it'll happen in order to test her.

DD15 also finds that any time she goes up and down stairs her heart starts feeling like it's racing. She doesn't get short of breath. She just feels like it's pounding. Occasionally it'll happen when she's just sitting doing nothing but it's pretty consistent from stairs. She can walk and walk and walk without this happening. You won't get her to run. It's just not gonna happen because of laziness (she admits she's lazy so that's not judgement on my part). She does have known trunk strength issues.

Are GI issues every related to EDS? What about bladder conditions?

Are there any vision disorders that are related to EDS?

I'm trying to figure out if I should be pushing for any further testing or not and if yes what kinds of tests I should be pushing for.

Anything anybody can tell me would be helpful.

Adding another questions:

Is there any way to differentiate pain associated with EDS from other pain? DD12 gets a lot of leg cramps, upper center back pain, neck pain and headaches in the back of her head. The leg cramps are as frequent when I make sure she's really well hydrated and bananas can help a bit with the leg pain (I assume it's the potassium) but the pain just doesn't seem to have a cause. It's not as frequent since going gluten free but she does still get the pain. The pain is not associated with any kind of injury.

 

[DuckyCurtains]

Heads up that all of this is from my experience and what I've been told my doctors. If something is wrong please let me know

It is possible to have EDS without full dislocations. I've had dislocations since I was a little kid, but my friend with EDS didn't start getting dislocations until her late 20s. Subluxations are partial dislocations, they hurt but generally resolve on their own. For me a lot of the time it corrects itself almost as soon as it happens. I actually didn't know that some of the popping and pain I had was subluxations until recently because unlike dislocation they don't need to be set, they almost always self-resolve

I'm not sure about the visual symptoms, but I have EDS and a lot of visual disturbances. No body has ever told me it's related. However the eye is made up of about 80% connective tissues, so it seems logical that connective tissue disorders could effect eyes.

The heart racing is common in EDS, its called Postural Orthostatic Tachycardia Syndrome or POTS. POTS causes increased heart rate and sometimes syncope with changes in posistion. I've read that its usually about 30bpm faster, and resolves when the person lies down. It's pretty common for people wth EDS to also have POTS. EDS can also cause vascular problems within the heart so when I was diagnosed with EDS I had an echo to check my heart structures and valves for defects.

GI issues are commonly associated with EDS. The defect in connective tissue can cause motility problems, so problems with gastric emptying or gastroparesis are pretty common in people with EDS.

As far as the muscle pain, my rheumatologist said generalized pain and fibromyalgia happen with EDS in some cases. I don't know much about it. I get frequent muscle spasms, I have to take muscle relaxers almost everyday.

If you think your daughters have EDS, I would suggest making sure they get their hearts checked for vascular EDS. Vascular EDS needs to be closely watched because of the possibility for bleeding complications so it's important to rule that out.

Feel free to message me if you want to talk

 

[WheeledTraveler]

The answer to the majority of your "could EDS do x" questions is yes. It can cause GI, bladder, autonomic dysfunction (not being able to regulate things like BP, pulse, body temp, etc.), eye problems, muscle pain (with seemingly no cause), and all sorts of other things.

Subluxations are partial dislocations. They generally don't need any help to go back into place and can do so either immediately or take some time. There's no good way to "test" for them in terms of scans because for most people they don't stay out of place long enough. It takes a dynamic scan and it's not worth it. For me it tends to feel like something in my joint is slipping. I can have pain for days or a week (or more). I also tend to sprain more than I sublux or dislocate (I almost never dislocate anything). It is completely possible to have EDS with out dislocation and with a Beighton lower than 5.

Having unexplainable muscle pain is really common. The best theory I know is that the muscles are working to keep joints in place constantly so that there's extra strain and spasm causing pain. There is also possibility from joint and muscle pain directly from subluxation, dislocation, and wear and tear on the joint due to long-term problems.

I'd really suggest looking at getting in with a geneticist because they're really the ones who diagnose EDS. I don't know where in NH you are, but I do know at least one person diagnosed at Boston Children's. The absolute top EDS geneticists would require more travel than that (if you PM me, I'm happy to pass on their contact info). I know you've asked about EDS before and I thought then and still think that it's something that fits a large portion of your daughters' symptoms.

 

[mommasita]

I second the Geneticist.. Newly diagnosed from my Rheumy, and on my wall to see a Geneticist..

 

[clanmcculloch]

They types of eye issues we're dealing with are tracking and convercence types of issues meaning that the eyes just don't work together right. DD12 did vision therapy for this and it helped for a little while but it didn't seem to stick. That's why I'm wondering if it could be related to connective tissue issues if that makes any sense.

What you're all describing about sublexation does sound a lot like what DD12 goes through. She recently was on crutches due to achiles tendonitis and bursitis and as that was healing she I guess sprained or pulled something else leading to swelling in another part of her foot and now that her ankle is barely hurting any longer the swelling in the other part of her foot is still there and she's got pain in the side of her leg. Last night I was doing some deep rubbing on the foot and the pain seemed to go away which seems weird to me when there's swelling (you'd think it would hurt more to press on it but the harder I rubbed the better it felt) so I wonder if I happened to just get it back into place. She turns her ankles a LOT. I really need to call the podiatrist to get her insoles remolded since she seems to turn her ankles a lot more as the insoles flatten. Is completely flat feet also potentially related to EDS?

Is there some other kind of specialist we should consult with other than a geneticist? From what I've read, genes have only been identified for a few forms of EDS. I would love contact info for a good geneticist in Boston. WheeledTraveler, I'll PM you for info. Thanks!

Yeah, I've asked questions before but then when I discussed it with our family doctor she dismissed it because she just doesn't understand EDS and only looked at the Beighton scale and didn't consider anything else. I haven't been able to find anybody in particular who does know anything about EDS and I can't seem to figure out who to even discuss all of this with so I'm trying to find out more info on my own until I can find a doctor to even talk to.

Thanks again everybody!! Anything else you can shed light on would be really helpful.

 

[WheeledTraveler]

Even though there aren't genetic tests for EDS, in the US geneticists are generally who do the clinical evaluations and diagnose. Unfortunately, finding doctors who know anything about EDS is a bit hit or miss and what most people end up doing is finding doctors willing to learn about EDS after going and getting diagnosed. Some of the geneticists will actually do long-term follow-up for EDS patients because of the problems finding doctors who can treat. You may be in slightly better luck since your daughters are still under "pediatric" for doctors (quite a few people are diagnosed as adults and it seems to me like the teens/kids I know seem to have better access to care than I have as an adult, but there could be other factors). Theoretically it should be among the things rheumatologists treat (and in the UK rheumatologists are who treat EDS), but in general I, and other EDSers I know, have found rheumatologists uninterested unless we also have something autoimmune. There's no easy answer for what sort of doctor you should be looking for. I tend to use orthos for specific injuries, my geneticist for longer-term care and for knowing the most recent EDS-specific research, another doctor for pain management, a physiatrist (rehab doc) for some of the overall things - although that may change because I'm unimpressed with the one I'm currently seeing, a neurosurgeon for some of the co-morbid neuro conditions I have, and I'm about to add in a cardiologist for probable dysautonomia and a weird aorta thing that showed up on an unrelated MRI.

Eye-tracking problems can definitely show up with EDS. They aren't necessarily directly the EDS, but there are some co-morbid conditions that can cause the problems.

Flat feet are definitely an EDS thing. Not everyone has it, but many people with EDS either have completely flat feet or have arches that flatten out when weight-bearing. For many, rolling ankles all the time is another familiar story.

There's also a huge range of symptoms for EDS and range of severity. There's no pattern to severity, either. For example, it's pretty clear where it comes from for my family, but I'm the only one diagnosed and the only one who has severe enough problems that it actually effects my ability to do things. One thing you might want to do in prep for seeing a geneticist is asking around extended family as much as possible to see if you can build some level of family history.

I assume you've come across the EDNF website. If not, you should check it out and they have a specific document on their website that's along the lines of "so you think you might have EDS" which has a pretty good description of what problems might be related.

 

[clanmcculloch]

Thank you for all of your info!

I had DD12 back at the doctor yesterday because her foot and knee are hurting with some swelling in the foot. It's likely injuries from walking a bit funny due to the achiles tendonitis. Our doctor is out of town so we saw another doctor in the practice. She thinks it's strained ligaments but can understand why I would want to look into EDS from what I was telling her. She said in all her years in practice she's only had one patient with EDS and she had a lot of trouble finding any kind of specialist in the area who knew enough about EDS to be able to evaluate and support his treatment properly. She said she ended up finding a geneticist at Children's in Boston so maybe I can give them a call.

Does physical therapy help at all? She needs this ankle to be able to heal without further injuring it. What do physiatrists do differently than physical therapists?

Her feet are completely flat even when elevated.

I'll take another look at the EDNF site. It's been a long time and I was really overwhelmed last time I looked. Sometimes it helps for me to step away for a bit which in this case I did so maybe now I'll be better able to absorb the info.

As to family history, well, what don't we have in our history, on both sides. There's a boatload of autoimmune issues on both sides. Both mine and DH's families have some people who were "double jointed". I could probably in some ways tie some of the numerous health issues in the past few generations to EDS. I've got a form of colitis that involves the collagen in the connective tissue of the colon but I haven't actually found anything online about connections between the two. I really wish we actually presented any of our numerous issues with the typical most common symptoms. Sure would make things easier.

 

[WheeledTraveler]

Family members that are/were "double jointed" would be something that a geneticist would see as possibly being a sign of family history (some might also say autoimmune diseases because there seems to be a higher instance of autoimmune disease in folks with EDS).

A physiatrist doesn't treat the way a physical therapist does. They do more overseeing so would prescribe physical or occupational therapy, bracing, or suggest treatment options for "mechanical" problems. The idea is that when you get sent to an ortho or a physical therapist, they're generally supposed to be focused on one specific injury, but a physiatrist is supposed to look at the whole picture.

Physical therapy can help. Your daughters are probably really good candidates for it. Hydrotherapy is also something that works for many people. With physical therapy, it's worth asking around for places that have experience either with EDS specifically or hypermobility in general. The biggest "trick" is that to strengthen in ways that help the best for EDSers you need to focus more on tone than brute strength. This means things like more repetitions at a lower weight rather than moving up weights at the same number of repetitions. Obviously everyone responds differently, but many people do very well with PT. It's definitely something that can help prevent problems longer-term (or delay their development) as long as the exercises are kept up with.

I am going to get back to your PM, I just am sick at the moment so haven't finished pulling together things. (Just wanted to make sure you knew I wasn't ignoring you!)

 

[clanmcculloch]

I'm sorry to hear that you're sick. I'm really grateful not only that you've been sharing so much helpful info but even more-so that you're doing it when you're sick. THANK YOU so much!!

We've definitely got more than our fare share of autoimmune issues. Unfortunately it does look like my kids are following down this same path and I definitely see autoimmune issues in my own family history. My poor kids were pretty much doomed to health issues. At least I'm catching them when they're kids and not having to go through 30 years of progressively worsening issues that get to the point of permanent damage from not being treated. It's definitely going to be a lifetime of paying close attention to a variety of issues to hopefully put off things getting bad/worse. Genetics STINK!!

The doctor thought the pain would start lessening at least a bit after the first 2 doses of prednisone. Nope, not yet. I suspect I'll be bringing her back in on Monday like I was told to do. That'll be a good time to discuss recommendations to a PT. Unfortunately, my area's not a good one for finding specialists of any kind who know anything about EDS. I'm willing to travel to Boston for a doctor but for PT which I assume would be weekly, maybe more at first, that drive's just too far. We have some sports rehab places around here. I'll probably have to call around myself to find somebody who understands hypermobility at least somewhat.

Would it make more sense to start with a physiatrist?

Take care of yourself and get some rest. If you don't respond for a few days or more I totally understand.

At the rate she's going, if we don't do something she'll be doing Disneyland in a wheelchair. She won't actually object to that since she enjoyed doing WDW in a wheelchair when she broke her other ankle a couple years ago (she liked not having to walk; she has stamina issues on top of being lazy) but I won't be happy with it. This leg has to heal.

 

[goofieslonglostsis]

I'm gonna begin with quoting post one before reading on, otherwise I would most certainly forget half of what I've read and wanted to stay, so bear with me a bit.

Our primary doctor does not know anything about EDS so she's no help. When I asked her about it, she said she had to look it up before she could discuss it with me because since med school she has not had any dealings with anything to do with EDS. She's a really good doctor but not helpful on the EDS front.

This is not her "fault", so to say. EDS is basically not on the radar during education, nor training and thus can very easily go undiagnosed even when having mutiple "textbook cases" in ones practice. An important thing to know is that EDS tends to be unknown by most medical professionals and those that do know the name, well, most do not get beyond knowing perhaps 5% of what is known about this syndrome (after all, LOADS is not even known about it yet). You will probably start getting the picture of how difficult it can be to find the right doc.

She did agree that based on the Beighton scale that she'd give a tentative Dx of EDS but that's as far as she'd go. We disagreed on the angle of her knees and pinkies; she said they're a dregree or two from being diagnostically significant (she says pinkies are exactly 90 degrees while I think they're more like 100 degrees and she says knees are exactly 180 degrees while I think they're more like 200 degrees though she gave the tentative diagnosis based on the pinkies being close).

This is easy to solve. Angles are not guestimates, they can be meassured. Remember high school? Needing to measure degrees of angles in triangles? Those aids you used back then are available for meassuring joint angles also to make it very presize. The older most used ones looking like you used in school can give discussion about a degree or 2, 3 but not this much. Some have started working with digital ones, which are even more presize. Specialties that are known with this; ortho, rheumy, OT, PT etc. etc.

Anyway, I have questions regarding both of my girls. Can any of the following in any way be related to EDS or any other collagen or connective tissue disorders?

What ages are the girls? Age can be of influence in how to judge certain mobility.

Neither of my girls has ever dislocated any joints. Well, actually, DD15 did dislocate her elbow once when she was a toddler but it was an unbelievably common type of dislocation in toddlers so I don't count that. Is it possible to have EDS without dislocations?

Yes it is. Dislocations and partial dislocations called subluxations are commonly known about eds but they are not a absolute must, so to say. Even not in the hypermobility type of eds.

How would a joint subluxation be diagnosed?

Physical exam, x-ray or sometimes combined with verbal consultation.

Can a subluxation correct itself in time or does it need to be set the same as a dislocation?

Both sub- and dislocations do not always need repositioning. Many folks will have found their own way of repositioning without being aware of it (watch out for any ticking, tapping, slapping, pushing etc.). But that is not all. Many can also be repositioned by things as simple as posture, muscle usage, relaxing, sleep, gravity, movign etc. etc.

DD12 is constantly hurting her feet and ankles but over time with rest, ice and ibuprophen they do heal themselves with no need to set them. This most recent time the doctor did do an xray to rule out a fracture (she never thought a dislocation was possible) so I'm assuming a subluxation would have been seen? The xray wasn't done until she was almost a week out from the original injury.

A

Ah a 12-year old. A subluxation would only be seen if it was still there at the moment of x-raying. That can sometimes be very easy when a sublux stays put but can also be very difficult when moving very quickly from normal to sublux etc. A week after a permanent sublux is unlikely esp. with a negative x-ray. If it was a sublux to begin with, her symptoms would be explained by the original trauma that the sublux caused to connective tissue in ligaments and possible surrounding muscles.

[quote[Is there any connecton between tendonitis and/or bursitis and EDS or other connective tissue or collagen disorders?[/quote]

Yep. Both are seen more frequent with eds, and pretty logical when you know both can be caused by improper movement and tendons and bursi being right there around the joints. They are also more frequently seen in certain other hctd's.

If the score on the Beighton scale is under 5, can a person still have EDS?

Beighton is a tool, as is Brighton. Both do nothing more or less than indicate hypermobility and the "degree" of it in looked at locations. And while hypermobility is a major diagnostic criteria, it is NOT the only major diagnostic criteria, and then there are minor diagnostic criteria. One can have a relatively low hypermobility score but still have EDS. Also other medical history of that person needs to be looked at as this can influence diagnostics. The only 100% positive diagnose is when finding the specific gene-defect involved for a certain type of eds. Unfortunately at this moment not all are known, not even all per type.

DD15 gets these aura-like episodes. A neurologist called them visual migraines but I don't buy that. What happens is that this "aura" (that's my term, not hers) is like a whole lot of spots around the peripheral of her vision that sometimes get so bad that she's actually lost the ability to see at all during the couple minutes before it passes. It doesn't always get this bad.

Actually it does sound a lot like migraine-sans-migraine. Or in normal peoples language; migraine but without the headache. Migraines can be such they can cause loss of functions, even mimic strokes. And here we have second age by the way.

It really varies between episodes but most times it comes close to the spots blocking most if not all of her vision. There's no pain when it happens but it's obviously disturbing. A couple times she's lost balance during an episode (only eposides where the spots completely block her vision) though she managed to grab something/someone so she didn't fall. She's never had any kind of tests done during an episode, not even blood pressure, because we don't know what triggers them so therefore can't predict when it'll happen in order to test her.

WHy do you think it is not migraines? What do you think or fear? Certain stuff you do not need to always know triggers about to get a clearer picture. This does include more research into migraine by the way. If not already done, a special headache-clinic can be helpfull. Options for formentioned can include keeping a journal, tracking certain functions longer term with her noting down or pushing system if she does get symptoms etc.

DD15 also finds that any time she goes up and down stairs her heart starts feeling like it's racing. She doesn't get short of breath. She just feels like it's pounding. Occasionally it'll happen when she's just sitting doing nothing but it's pretty consistent from stairs. She can walk and walk and walk without this happening. You won't get her to run. It's just not gonna happen because of laziness (she admits she's lazy so that's not judgement on my part). She does have known trunk strength issues.

The latter; get proper training for that! No matter what she has or does not have, these issues need addressing. Seriously. It is very important she gets beyond "I'm just lazy". Very difficult with some teenagers, but still. This can be a sign of just having a darn bad general condition. Stopping lazyness and sports/excersize will built up condition and make that stop if because of poor condition.

Are GI issues every related to EDS? What about bladder conditions?

Both can be.

Are there any vision disorders that are related to EDS?

Can be. You know, thing is really that almost about anything "can be", but does not thus have to be. To begin with terms like vision disorder are covering about all stuff with eyes including nothing to do with, but also there is the thing of connective tissue being in all kinds of tissues that make up the body.

I'm trying to figure out if I should be pushing for any further testing or not and if yes what kinds of tests I should be pushing for.

You are not just asking. You have some things you are thinking about and/or fearing. Let's just voice them.

I'm in the school that feels worry about eds worry putting either to rest or knowing. But that would require you wanting to do your homework first, knowing enough about this syndrome so you can make a proper assesment of which physician is trying to be helpfull but talks utter cr*p and who does know what they are talking about. Esp. since the latter are so rare.

On the other hand, some things are also straightforward that you can already look into in the meanwhile. Like looking into ways to minimize pains, problems etc. Not by blindly going for splints, as this carries a huge risk. But for instance with the foot and ankle, it can be very helpfull to try costume insoles to stabilize. Having movement patterns analyzed and addressed where need be. Built up proper muscle usage, posture etc.

Anything anybody can tell me would be helpful.

Two DD's that you suspect of this? Either you are wrong or right. If right; the odds of both of them having had a spontanous mutation on gene level is unbelievably low. One child, it happens. Two; you have more chance of winning multiple jackpots. So it has to come from somewhere in their gene-pool. Most types of eds don't skip generations and are dominant so you would see symptoms somewhere in life in those who have enherited these genes. So making a medical family tree will be very helpfull. Include both diagnoses there might be but also (esp. really ) all those symptoms that are not diagnosed, things that are "typically a family trait" or you've always found weird.

Is there any way to differentiate pain associated with EDS from other pain? DD12 gets a lot of leg cramps, upper center back pain, neck pain and headaches in the back of her head.

Grin you are making it not easy on yourself. There is no one type of eds-pain. Nothing is plain and simple when you first dive into eds. EDS can cause all kinds of pain. Chronic pain, pain from inflammation, acute pain after trauma, dull pain, sharp pain, nerve pain, you name it.

The leg cramps are as frequent when I make sure she's really well hydrated and bananas can help a bit with the leg pain (I assume it's the potassium) but the pain just doesn't seem to have a cause. It's not as frequent since going gluten free but she does still get the pain. The pain is not associated with any kind of injury.

OK, I'm gonna cheer you back up a bit after that depressing pain talk above. You SEE no injury, but that is not to say it is not there. It has been found that for instance dislocations and subluxs can easily cause microtrauma in muscle tissue connected to that joint. With your DD having so many ankle problems, that could be already a possible cause of having those muscles induring microtrauma from the ankle moving in wrong ways.

And knowledge is power. The more she and you know, if indeed she has eds, yes she can learn to differentiate between types of pain and (very likely) culprits.

Also muscle pains can be associated with all kinds of stuff not eds. Vitamine and mineral deficiencies for instance. This can even occur in a seemingly healthy diet.


OK, I'm gonna read on and see how much repeating I'll have end up doing.

 

[goofieslonglostsis]

I really need to call the podiatrist to get her insoles remolded since she seems to turn her ankles a lot more as the insoles flatten. Is completely flat feet also potentially related to EDS?

You can imagine yourself when thinking about all the ligaments in the foot connecting all the bones. This result in it's shape. If those ligaments are torn, or too large for instance, you can imagine the foot making other movements that a "normal" foot wouldn't, right? Well with a connective tissue disorder, the ligaments have weakened connective tissue in it that can result in being able to pull the ligaments out further, them becoming larger over time or tearing them more easily. So now you know why flat feet can happen with EDS.

For the insoles; I'ld advice not just a podiatrist, but rather a combination of an orthopedist and orthopedic insolemaker or a combi of the latter and a rehab specialist. They tend to be able to deal better with these things and lower risk of missing possible important things, combined with more options to their disposal.

Is there some other kind of specialist we should consult with other than a geneticist? From what I've read, genes have only been identified for a few forms of EDS. I would love contact info for a good geneticist in Boston. WheeledTraveler, I'll PM you for info. Thanks!

Geneticist is the golden standard for diagnosing, for ALL types. None of the types have all genes identified. If so, diagnosing goes on without genetic testing, but this is really the specialty for diagnosing anyway.

Other specialist will come into the picture when you are talking about dealing with. So if you want any symptom to be dealt with and that basically goes on "which specialty fits the symptom". So an ortho or rheumy for joint stuff, a urologist for bladder stuff, a neurologist for neuro stuff etc.

 

[goofieslonglostsis]

What type of colitis do you have? There are some prevelances, but GI is a subject that is not even in it's infancy. A huge academical study is being done on it, but very little is actually factually proven known. Most knowledge on that subject at the moment still consists of "higher prevelance" and "we think......."


Topics like this is when I find it a shame there is no translation yet for a Dutch "bible book" on eds yet. While becoming a bit dated, it is the only book that combines all that is known and worked up with facts instead of "Mary and Kate both have it so it must be...." and gives attention to each medical specialty dishing out per specialty all attention fields. Officially published for the medical professionals but made readable for general public given how often you have to teach a physician on it.

Don't be too overwhelmed. Just start reading. The more basic understanding of what a connective tissue disorder is (or to begin with what is connective tissue), the more you can start to make the translation as to what that can translate to in a human body. The more savvy you will become in how to enterprete data, which sources to take serious and which not to take at face value etc.

As with anything in life there is one main recepy; ask yourself what you want to achieve. Then ask yourself how you can make your way to that goal. And it'll go from there. Same with this.

I do just want to warn a bit about internet boards though. Many folks get scared when reading those thinking that is the norm. It is not. Remember that internet boards get a lot more used by those who feel overwhelmed or have a relatively short end of the stick. So an overadvocating of those worse off either physically or emotionally. Combine that with some faking (yes, it happens everywhere alas) and undiagnosing being much more prevelent to beggin with in those with more milder forms. So boards can paint a picture, but it does not paint a balanced picture or predict future.

 

[clanmcculloch]

Goofieslonglostsis, I haven't been ignoring you. I've actually been giving a lot of thought into everything you said. You've made a lot of really good points and shared a lot of very helpful information. Thank you!

Sorry, I didn't even think that it would help to give more info about my kids. They're both girls. My 15yo has Asperger Syndrome and some definite hypermobility along a non-specific colitis and a variety of other interesting but long names for GI issues plus a pancreatic insufficiency, food intollerances and allergies and some kind of excess mast cell issue in her GI tract. I realize that very little of this has anything to do with EDS. Our family genetics really stink. Because of her autism, she doesn't feel major pain which makes figuring out health issues difficult. If she stubbs her toe you'd think that the world was coming to an end but she doesn't feel pain when she gets infections like strep, UTIs or with most of her GI stuff (in many ways a blessing but in other ways it makes it difficult to figure out that she's even sick when she gets sick). She also suffers from PANDAs which is strep induced OCD. My 12yo is the one who typically has some kind of pain. Since going gluten free she doesn't have nearly as much back, neck or head pain thank goodness. Her calf cramps are even much less frequent. Most of the pain she gets these days is abdominal (she has similar GI issues to me and DD15 unfortunately) and the leg issues that I'm primarily focussing on at the moment. She turns her ankles really easily (I'll go into this more in a bit). The eye issues she has involve things like tracking issues, coordination between the eyes and other issues involving movement of the eyes as opposed to shape of the eye and/or translation of information by the brain if that makes any sense. She's always had some fine motor skill issues but I always assumed it was related to the vision thing until the physical therapist started checking her out (I'll go into this more in a bit). She also has cystitis.

You're right about the angles. DD12's joints IMO look visually to extend less than DD15's but her physical therapist measured her joints and several to hyper-extend. I never would have guessed by just looking. DD15 hasn't been measured but she's not the one having problems with her joints.

I think after really thinking over some of what you've asked regarding DD15 that I am probably freaking myself out unecessarily. I'm not going to stop trying to get answers but I'm going to try to be a little more moderate in some of my thinking. Yes, the aura issues could be visual migraines and really they probably are. I think my concern is the possibility of something vascular. I know I'm probably freaking myself out unecessarily. The internet is a dangrous thing.

I do know that I have to get her active. I know that this is an area in which I've been neglignet. As a couch potato myself, it's not an easy thing for me to tackle. Maybe as DD12 and I work on her exercises I can get DD15 to participate with us to at least get her moving around a bit more.

I do realize that if this is EDS in one or both of them that it's not some kind of genetic mutation but rather is most definitely genetic. My kids unfortunately were cursed genetically.

The colitis is technically diagnosed as non-specific but my GI doctor says it's most like microscopic colitis (when we were going over my test results and I asked about it he took another look at my results and appologized for not taking biopsies specifically for it because looking at it after the fact he can see that visually the presentation was exactly like it would be with MC).

You know, when thinking over the genetic history, I totally forgot that I was born with a club foot. There are pictures of me as a baby with special shoes with a bar in between them and according to my parents I couldn't learn to walk until they put a cast on my leg. Then again, as far as I know I have no EDS symptoms

What do I want to achieve? Very good question. I want my kids to not be in pain or in excessive danger of injury or health complications. I suppose a part of it could be the need to solve a puzzle but I think with DD15 the reason I didn't do any follow up in a long time is because she doesn't seem to have pain or complications at the moment. DD12 on the other hand is suffering so that's given me the kick in the pants to push again.

Sometimes I do look at websites and I see that my kids aren't going through nearly what most of the people on the boards are going through and it makes me question myself. I have no idea how to know when I'm pushing too hard vs backing off too much vs just doing what needs to be done. Sometimes I feel like I'm just looking for problems. Unfortunately, more times than not the something I'm looking for ends up being found which really stinks.

Now onto the update.

We saw the orthopedist. He gave her a quick 1 minute exam and said it's not orthopedic (I figured that but it's where the doctor sent us). I kept quiet (you have no idea how hard that is for me) as he examined her and he quickly asked if there's any history of rheumatoid issues in the family. Well, no, but lots of autoimmune. I then asked about EDS. He did another check of her joints and said her tendons definitely feel hyper-elastic but that doesn't necessarily mean EDS. He did a bit more examining and proclaimed her issues non-orthopedic and said that she really needs to see a geneticist and a rheumatologist as well as a physical therapist. He was very insistant that the PT should NOT be somebody who treats sports injuries but rather somebody who treats developmental issues in children. He also gave her a special kind of ankle brace for her right ankle. He figured that by supporting the ankle that her leg would be straighter and put less strain on her knee.

I'm right now waiting on the paperwork to go through for the geneticist and she'll be seeing the rheumatologist on June 4. I found the rheumatologist when searching for doctors in my state who treat EDS. The geneticist was recommended by both the orthopedist and physical therapist. He happens to be the only pediatric geneticist in the state. He's closer than Boston and I do like the PT.

She started PT last week. The PT spent around 1.5 hours doing a detailed evaluation. Her knees hyperextend. Her hips are somewhat locked up which according to the PT is very common since the body's trying to compensate for the other joints in her legs not holding up sufficiently. One of her knees actually it seems feels like the lower leg bone is turned a bit. She said that the ligaments in her feet, ankles and knees do not feel like they're holding in place sufficiently. We always thought that she had flat feet but according to the PT it actually feels as though the instep is quite high but ligaments and muscles are unable to hold the bones in their proper place. It was shocking to see just how much her ankles are turning in when she walks. I had noticed a bit in the past but I guess I hadn't really paid that much attention. The issues are definitely a lot worse on the right (the side with the pain) but actually her left hip has more issues, most likely from the uneven walking due to pain. It turns out that the fine motor skill issues have more to do with her hands having the same kinds of issues as her feet. The focus is going to be more on her legs but we'll eventually have to do something for her hands as well. The PT is going to focus on building up the strength is the muscles, loosening up the hips and working on her walking alignment. She said we'll likely end up wanting to make an appointment with an orthotist who sometimes works with their practice but first she wants to see how DD12 does with the brace from the orthopedist coupled with the exercises. DD12 does have a bunch of focussed exercises she's supposed to do at home every day. The PT also recommended that I get the same kind of brace for her other ankle since she's definitely turning both ankles a lot. Her feet and ankles are collapsing inward a lot. As a PT she won't give a diagnosis. She did say that we REALLY need to see a geneticist and that there's definitely hyper-elasticity of the ligaments and hyper-extension in several joints.

Anyway, that's my update.

Thanks again everybody for all your advice, words of wisdom and for just being there.

 

[goofieslonglostsis]

I don't feel ignored that easily. I know how crazy it can be with multiple kids at home with all their own needs. Then info can take time to sink in, so I don't take it personal when someone doesn't always respond within a few minutes.

The GI problems you mention, it depends on the issues etc. but GI issues are commonly seen in folks with EDS. Loads still isn't know about the exact why and how, but it is so overly common that big research has been started into it. So perhaps there could be an issue there if indeed eds were to be bugging DD. Same for all kinds of bowel problems including some reports of colitis. It can all be bad luck, but would definately mention it if you want to get eds excluded or diagnosed.

Eyes; totally makes sense! Connective tissue is part of the upmake of multiple parts of the eye, so it can again cause problems when having such a syndrome. The lens luxating is most commonly known, but focussing can be a problem also. To keep the eyes "tracked" we use muscles to keep them in spot. When tired, that can be too difficult and be one of the first to loosen a bit too much (since there is also connective tissue in the surrounding areas). That can be easiest seen when taking pics and looking at those when she is tired. Odds are she might be having one or two eyes inverting too much or going too much too the outside. More subtle cases are easier seen in pics then IRL. Difficulty is to try and determine what -if any!- correction works best. To fit it to the best working moment (and thus not best when tired) or to the tired moment (and thus too much for good moments). It can also in some folks result in being very difficult to properly meassure the eyes.

If DD15 is even more hypermobile, that could be something to be aware of. At the same time, 2 DD's with such a genetic condition in one family would rule against the odds of spontanous gene mutation but rather indicate a connective tissue disorder is already in their family tree. Most types of eds go from parent to child, so that would mean mom or dad. EDS can come in many forms. It can range from very mild to pretty hefty. If DD15 is so hypermobile, and other DD were to be diagnosed with eds odds could very well be that DD15 has eds in a very mild form. If so, knowledge is her best friend. Knowing what her bodies risks are and how to stay clear of it, so to say.

Same could be for you or dad, if it is indeed coming from that line. You know, my dad had NO clue about having eds until I got diagnosed. He was long past his 50's, thinking no symptoms. Those he did had were chalked up to another chronic illness he has and "oh well, everybody has something sometimes". Now he knows better so to say. He is one of those with mild eds and thus no clue until very recently.

As far as getting a diagnosis goes; think you've got enough to push on that one to either exclude or not. Most difficult one for you will be that you can't protect them from all pain. Whatever it is that is causing her this, it's going on for too long. Chronic pain many times can't totally be prevented or treated away. I know as a parent you'll want to protect her from it all. From all the pain you can't, but you can help her deal with it in a way she finds her life very much worth living. If indeed eds, getting a diagnose does help you in optimizing. There is no cure, no standard treatment. You will run into a lot of walls of having no clue what eds is. But; you can learn yourself what IS already known. With that knowledge you can help her learn what can make things worse or help her prevent pain whenever she can.

You obviously have some concearns. Only diagnose or exclusion will give you the final answer. Risk of comparing is what you are feeling already. You do risk soothing yourself with the idea it is not that bad. Luckily it isn't, thankfully. But; does that take away the reasons why you considered if eds might be in play? After all, it does come in all kinds of shapes. Remember that internet attracts certain people. People like you looking for info. But also people that are having a difficult time, reaching out for help. Those with a rougher deal physically or emotionally tend to visit for instance patient boards more likely than those who have milder symptoms. Very human behaviour, but you now see all those bad stories of folks in so much trouble. And doubt if your suspecting eds is still valid or just being overprotective mom. The boards shouldn't make you make that distinction, the facts should. What facts you have to consider eds? What is your history, were you that wolf-crying-mom or have you been right before about medical stuff? Does it "sit" right, so to say?

You know, even I had an idea one day doubting if I weren't too pushy about eds. Yet, my gut knew it from the get go; this is it! Since then it's become overly clear and I am one of those worse off I guess. My brother also has it but denies. He looks at me and says; I don't experience your problems, so therefor I can not have eds. His perogative, but a risk he is taking with his health based on emotions and comparing one end of the spectrum.

Sounds like since you've found a PT that could be very helpfull. If open to it; there are special booklets from eds foundations on PT (what to do and what not) and there even is a book about it. In language (and title) it focusses on hypermobility syndrome, but the theory is the same.

The brace; be carefull about using it. Bracing has one huge downside; it will require the muscles to do no work at all. Yet those same muscles should be keeping a joint in place and take over where the ligaments can't. So using a brace can easily make a problem worse by weakening muscles. Sometimes usage can't be avoided but it is a very tight line and does always come with working on upkeeping involved muscles very carefully.

There is one exception; something called silver splints and/or silver ring splints. These are braces for the fingers, hands and wrists made out of silver. While they do block harmfull movements (so hyperextending in whatever direction), they do not lock in. So while wearing such a splint, you will still use muscles in the same way as without wearing it. These can be both standard and custom made. Unfortunately they are expensive and I know some in the US did get them covered, some not but would get plastic ones covered (same principle but less comfy).

 

[clanmcculloch]

She is being given very specific exercises to strengthen the muscles in the feet and ankles. She does these without the braces. The PT said to wear the braces and shoes when she's walking on hard surfaces and go barefoot whenever she's walking on soft cushy surfaces as the cushy surfaces will force her food to work in a different way to build the muscles. The braces are not intended to be permanent. The orthopedist was concerned about her using the braces at all for the exact reason you said but right now her feet and ankles are turning in so badly that it's causing further knee and hip issues. She's only had one PT session where she's actually doing therapy as opposed to the evaluation and half the exercises she's only been doing for 1 week with some additional daily exercises added in yesterday. It'll take some time to build things up. Next week in addition to the regular PT she'll also have a session in the water. DD12 is really excited about that.

The PT did say that she needs to be careful with just which exercises she works on with DD12 because some of them can be harmful if the problem's JRA (one of the two things the orthopedist said though both the PT and myself doubt that's it based on some specific details of her symptoms) and others could be harmful if it's a hyper-elasticity problem.

The PT plans next week to put some kind of tape on the back of DD12's knees to pull the skin tight enough to not allow her knees to hyper-extend so that she can train herself somewhat to not hyper-extend. I have no idea if that makes sense or not but that's the plan, once we've confirmed the patch test of the tape doesn't cause a reaction.

I'll take a look for those pamphlets you're talking about. Somebody recommended the book Joint Hypermobility Handbook- A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome by Brad T Tinkle. Is that the book you're referring to? I haven't picked it up yet.

I fall into the same category as your dad of having a whole bunch of problems that I just figure are part of "my" normal. I actually do have a lot of back and hip sublexation issues but so do a lot of other people. I have a lot of the same types of aches and pains as she does though nothing as severe as her with the legs.

It's always hard for me to know if I'm that crying wolf mom or not. The majority of the time I have been right when I chase down these things so I figure that can't be it, but it sure does feel like I'm always chasing something down. It's enough to drive a person insane.

Thanks again for all your help!

 

[goofieslonglostsis]

I'll take a look for those pamphlets you're talking about. Somebody recommended the book Joint Hypermobility Handbook- A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome by Brad T Tinkle. Is that the book you're referring to? I haven't picked it up yet.

Also a good source, the one I referred to is this one; http://www.amazon.com/Hypermobility-Syndrome-Diagnosis-Management-Physiotherapists/dp/0750653906

Now the price mentioned there is NUTS, but was the first URL I found so quickly with the info to give you a bit of an idea. If you can't find an affordable version or in the library or something and do want to read up; let me know. I've got a copy I don't use anymore, so can easily mail it to you when back at wdw this fall.

I fall into the same category as your dad of having a whole bunch of problems that I just figure are part of "my" normal. I actually do have a lot of back and hip sublexation issues but so do a lot of other people. I have a lot of the same types of aches and pains as she does though nothing as severe as her with the legs.

Had to laugh about this. Hun, you might be protoype. Or at least are with your p.o.v. I can't remember anybody NOT saying "yeah, but it's part of my normal". Textbook sentence I've heard everybody say incl. myself. I've said it loads of time after knowing about my eds. I literally had to learn what "normal range" is and how eds my childhood also was instead of "oh so normal". Subluxes do not just happen and can be just shrugged of as "oh other people get it as well". Nop. Not when suspecting eds. It can happen in a specific one isolated joint area when having damaged those ligaments in for instance a sporting injury. But without than and in more than one location? Does sounds rather suspisious (spelling??) when you put it all together and consider eds in your kids to be a possibility. Might be smart to put together your own medical history for when going to a geneticist. Tip; add anything and all you know. Don't decide if it is important or not, specialists will do that. This way you prevent not including something that you reckoned normal but instead is perhaps not so normal.

It's always hard for me to know if I'm that crying wolf mom or not. The majority of the time I have been right when I chase down these things so I figure that can't be it, but it sure does feel like I'm always chasing something down. It's enough to drive a person insane.

Totally get that insane feeling. It'll be there to stay for some degree if indeed eds, as you will know more than most docs after learning about it. But you've said the most important thing; majority of time your instinct was right. That in and of itself justifies going forward with this and know if your instinct is right about this also.

 

[KPeveler]

Just agreeing that a geneticist is the only way to go - and I have discovered that you may need to find a geneticist who knows something about EDS.

It would be best if, eventually, you could have them see one of two in the country (Cincinnati and Baltimore), or someone that they recommend. Some geneticists don't know about the newer categories, and if you do not have stretchy skin, they say you do not have EDS (basically they only learned about the Classic type in med school).

I am not sure if this got posted yet, but this was an awesome resource for me:
http://www.ncbi.nlm.nih.gov/books/NBK1279/

There are also ones like that for the other types of EDS. This is the NIH standard, so it is hard for doctors to argue with. I also give this to family so they can learn what is going on with me.

 

[clanmcculloch]

Thank you everybody!

We did see a pediatric geneticist. He said it is not EDS (yes her skin was one of the disqualifying factors, sigh). He didn't give us any further direction. He didn't evaluate for anything other than EDS or discuss anything of her family history, saying that anything else it could be wouldn't fall under his area. The same thing every other doctor we've seen says. This guy is the only pediatric geneticist in the state unfortunately.

Her PT seemed to be going well for a while and then she hurt herself again (ankle turned even with the braces on but only part of her foot went with it causing bruising and swelling in her foot). The PT is now afraid to do any further work on her feet, ankles and knees until we get an actual diagnosis. At least the Voltaren helps a little without causing much stomach upset. It doesn't take away the pain but it does make it more moderate when it's bad (she only asks for it when it's bad like this morning when she said she could barely walk because her one knee hurt so much).

Her PT is now saying that the way DD12 is responding to different therapies and based on what seems to help she thinks it looks most like JRA coupled with joints that are hypermobile (not enough for an EDS diagnosis but still hypermobile). Unfortunately, blood tests in kids frequently come back negative which is what happened with her.

Tomorrow we see a pediatric physiatrist. Her PT actually wanted us to see this guy's associate but first available appointment with him isn't until November (he's that good I guess) and I really want her seen sooner than that. Hopefully he'll actually step back and take a look at all of her symptoms and evaluate based on the whole picture. So far every doctor we've seen looks at a narrow view of what's going on, rules out one thing they seem to specialize in and send us on our way with no answers or even direction for what to do next. Wish us luck!