So that explains a lot.. EDS

[paintedtrails]

I have not officially been diagnosed, but I bet if I asked this last doc he would say I have EDS… Ehler’s Danlos Syndrome.
I went to a foot/ankle specialist yesterday after not seeing a huge improvement since an ankle sprain in April (even with PT for 2months). It rolled again in July and I managed to get stepped on the same weekend…so I figured let’s get this checked out by someone other than a sports med doc.

He went through all the major joints and told me I had a genetic collagen issue as every joint he checked was hyper-flexible. My ankle is strong but unstable. Friends said, what about EDS?
So I look it up again (long ago was mentioned to me by a Chiro too but I paid little attention)… Hmm, yep I bruise easily, I have two prolapsing heart valves (minor backflow) and have had both shoulders rebuilt to tighten the joints after major accidents left me with subluxing joints even after major PT and very strong muscles (R/L happened 5years apart).

It appears my body compensates rather well until some major damage sets it over the edge and it can no longer keep the joint stable. We decided to see how long it takes me to be annoyed with my ankle to pick a surgical option to tighten it too. I’m hoping I can make do with a brace on it and avoid surgery!

Anyone else have this fun?

I find it odd because my ankle feels overall “tight” to me compared to the other, yet I have a subluxing tendon - which is apparently why I get a throbbing pain and contact pain often.

[Bluey]

I don’t think that is a very common disorder, or is not diagnosed very much.

[DawningDreams]

I have EDS along with POTS. I’d recommend finding a geneticist who can screen you for EDS. Sometimes, it won’t show up but that doesn’t mean it’s a misdiagnosis. Good luck!

[Foxtail]

I likely have EDS as well (as in it’s been suspected by several different doctors but I can’t find a geneticist to confirm that). See if you can compile a family history, and pay attention to things that might normally get overlooked. For example, my mother more or less has the same symptoms that I do, and almost everyone in our family is prone to early-onset arthritis. If you look at the gamut of hEDS symptoms, you can trace it back in my family four or five generations through my mom’s side. My great grandmother’s cousin (or aunt, can’t quite remember how the relation went) was very flexible and had problems her entire life with her hips dislocating.

You may want to take a look at the book “A Guide to Living with Ehlers Danlos Syndrome (Hypermobility Type).” And feel free to PM me if you have any questions or want to talk with a fellow zebra!

[impeggysue]

My neurologist suspected EDS and I had the diagnosis confirmed by a geneticist. I did have to wait 4 months to see the geneticist but it was worth the wait to get my diagnosis confirmed. There are EDS support groups in many states. I emailed the Maryland EDS support group and they gave me a list huge list of doctors, physical therapists and genetic counselor in Maryland that specialize in EDS. It is really important to work with doctors and therapists that are very familiar with EDS. I often travel upto 2 hrs to see my specialists but it is well worth the time and travel.

[paintedtrails]

Thanks! I guess I need to start considering this as a real “thing” for me and figure out “what next!”…
Are there issue (other than arthritis) that I need to worry about watching for signs of, or is it a fairly benign diagnosis?

[Foxtail]

That very, very much depends on the person. My mother’s got heart problems. I don’t, but I’ve got a shoulder that won’t stay in it’s socket, and the cartilage in one of my SI joints has sheared apart (and I’m only 24…). Plus plenty other specific joint issues that she doesn’t have. Then there are the comorbidities, which you may or may not have. If you look at all the ways EDS expresses itself, worst case scenario you can be dead by 40. Best case you have the symptoms but manage to stay mostly pain free. I’d suggest talking to a bunch of people who’ve been diagnosed and seeing what symptoms they have that align to yours. As I was researching and talking to doctors I found that there were a lot of things my body would do that I thought were normal that were actually incredibly abnormal.

[Bluey]

I have been familiar with EDS for long time because of the connection for some with autism, but it seems to be a rare condition:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365276/

We had one kid under our management with both.

[paintedtrails]

@Bluey

I have been familiar with EDS for long time because of the connection for some with autism, but it seems to be a rare condition:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365276/

We had one kid under our management with both.

oh geeze… I was diagnosed with IBS in college…I have generally stress related flare ups even still at 38.
I also have Gilbert’s syndrome, which I came across somewhere as a strange coincidence that some with EDS have and proposing a link.

So I’ve heard that there is no genetic test for this type tho? I’m confused on where to go next… a geneticist? I have 2 kids that are young and not really showing anything like me so it is more knowing for their sake what needs to be done.

@Foxtail I think I’ll be PMing you! lol

[mckenna310]

I have hypermobility EDS but have to see a geneticist to rule out classical (I have some traits like atrophic scarring). I am lucky to not have dislocations but have found riding to really help with some of my neuropathic pain. And yes there is no gene identified yet for the hypermobile type but people can have crossovers into other types which can be identified by a geneticist. The vascular type is the one to really worry about, people can get ruptured aneurysms and die at young ages, so it is good to rule out.

[QuiteFrankly]

For those with EDS, what did you have ruled out prior to a diagnoses? I’m an 8/9 on the Brighton scale with frequent dislocations, but the orthopedist said that it absolutely was not EDS due to the fact that I cannot put my entire hand on my wrist, so am looking at having to go to a large medical center to have testing done to see what is going on. Just wondering what other issues present like this (I also have the GI and skin similarities).

[CHT]

I had a young teen student with EDS. She was newly diagnosed when I met her. I saw her recently at a horse show, and she is doing fantastic now as compared to when she was first diagnosed. I know her diagnosis took a while. You might want to check out the Inspire forum for advice on clinics and doctors in your area who can help you with diagnoses. Good luck!

[impeggysue]

The criteria for EDS diagnosis has recently changed making it harder to be diagnosed. I was diagnosed by a geneticist in Maryland familiar with the criteria. I can’t remember the Brighton scale score you must have (I was a 9) but you must also have severe joint pain in at least two different joints (for me it was hip surgery and shoulder surgery). There is also minor criteria you can have: GI issues, small pallet with overcrowding teeth, easy bruising, odd scars etc. My genetics it’s said it is now much harder to get an EDS diagnosis with the new criteria since it now requires multiple areas of joint pain as well as hypermobile joints. I will only deal with EDS specialists at this point because I have has so many clueless doctors during my diagnostic journey. You would not believe some of the rude, ignorant and plain wrong information I have received from some professionals. After 3 years of pain, I went all the way to NYU see a neurologist specialist and finally figured out what was wrong with me. The neurologist set up the appointment with the genetics who confirmed the diagnosis. (By the way I can only touch my thumb to my wrist with my right hand, my left thumb doesn’t quite reach my wrist–so really I think I should have technically been an 8/9). I would not take your orthopedist opinion as fact and I would certainly get a second opinion from an expert.

[paintedtrails]

@impeggysue

The criteria for EDS diagnosis has recently changed making it harder to be diagnosed. I was diagnosed by a geneticist in Maryland familiar with the criteria. I can’t remember the Brighton scale score you must have (I was a 9) but you must also have severe joint pain in at least two different joints (for me it was hip surgery and shoulder surgery). There is also minor criteria you can have: GI issues, small pallet with overcrowding teeth, easy bruising, odd scars etc. My genetics it’s said it is now much harder to get an EDS diagnosis with the new criteria since it now requires multiple areas of joint pain as well as hypermobile joints. I will only deal with EDS specialists at this point because I have has so many clueless doctors during my diagnostic journey. You would not believe some of the rude, ignorant and plain wrong information I have received from some professionals. After 3 years of pain, I went all the way to NYU see a neurologist specialist and finally figured out what was wrong with me. The neurologist set up the appointment with the genetics who confirmed the diagnosis. (By the way I can only touch my thumb to my wrist with my right hand, my left thumb doesn’t quite reach my wrist–so really I think I should have technically been an 8/9). I would not take your orthopedist opinion as fact and I would certainly get a second opinion from an expert.

So I hit many of the minor criteria, and a few majors (two shoulder surgeries and impending ankle). I hate that word Severe, because some of us just develop really high paint tolerances!

I guess I’ll poke around into it, and see what docs say as getting into a geneticist appears to be rather difficult!