I went to the new rheumy today. I have been looking forward to this for over a month in hopes that I had finally found a dr that could help. Unfortunately that was not the case, again.

From the very beginning she was only interested in my joints. She didn't seem interested in the least about my other symptoms. I did feel a little more optimistic when she started the exam. She did have me bend this way and that (more than I can say for the last rheumy), so I thought she knew about EDS.

Long story short she diagnosed me with Benign Hypermobile Joint Syndrome. Then she told me that she really didn't know much about EDS but that I couldn't possibly have it because my recent echocardiogram was normal and my elbows didn't bend far enough the wrong way. On top of that, she had to go print papers off of the internet about Hypermobility to help her explain it to me. She even stated "Oh, I didn't know that" after reading some of it to me.

So I asked her about all my other symptoms, headaches, dizziness, nausea/stomach pain, collapsed lung, ovarian cyst, raynauds (which she didn't even seem to know what it is), IBS, eye and dental problems, etc. etc. She said she didn't know about that stuff, but that most were common problems anyway and there wasn't anything you could do for most of them anyway. It took everything in me not to cry right there.

I'm not dismissing Hypermobility at all. I know that it can be very painful and debilitating on it's own, and I'm sure that I do have it. But can't it also be a symptom of EDS? And am I wrong in my understanding that all EDSers can't bend themselves in extreme ways? Considering all the stuff going wrong with me, should I push for an EDS dx or just accept it as only Hypermobility? Would it matter anyway? I'm so confused at this point that I don't know what to do. I just want to know why I'm falling apart, and hypermobility alone doesn't explain all that's going on with me.

On the plus side she did write a prescription for physical therapy, so that's something, and she told me that I didn't have to come back to her unless I had a new problem arise. Not that I would.

Thanks for listening. I'd love any input you all might have. Spoons!

There's huge thread somewhere on where BJHS stops and EDS-Hypermobility starts. Some say that BJHS is just EDS-H with no organ involvement.

Thanks! I read the thread about the difference in hms and eds. It answered my question. I can't wait to talk to my GP about all this. I just wanted to make sure I had my facts straight before talking with her. She's a great dr. I can't wait to see where she wants to go from here.

Unusually low bone density might help distinguish between the two conditions (although I personally believe they are different ends of a scale). A rheumatologist is the specialist to test that.

Thanks reactive. I haven't heard anything about bone density testing for this. I guess the lower bone density would suggest EDS? I might bring it up to my GP. I have an appt tomorrow and they actually do that in their office. I have so many things to talk to her about though. It seems I can never get to everything. I have found a genetics clinic nearby (at Duke) that specializes in connective tissue disorders. I'm going to suggest going there. They should be able to tell me once and for if it's EDS, I hope!

Like everything some the severity of ALL symptoms can vary GREATLY, some with H-EDS will have very stretchy skin, some will have normal or as close to normal skin, some will have osteopenia/ osteoporosis/ low bone density an dothers will have normal or near normal bone density, some will have easy bruising and scarring and others wont, some will have this organ involved and others not, some will be debilitated by pain and dislocations and others will be barely bothered by it. This is the problems with diagnosis because it is SO VERY variable. This all happens even in the same family of people with EDS...

As your Dr could not even describe Hypermobility and HMS to you without printing information off the internet and then proceeded to say "Oh i didn't know that" while reading a print out straight off the internet is NOT the best person to diagnose you.

I was told by a so called specialist that becasue my hands did not flop back with the backs of my hands flat against my forearms without assistance form the other hand etc, then I could NOt have EDS <HUH> Where in the diagnostic criteria does it state this???

Also hypermobility in invidiual joints varies, that is why you don't need 9/9 to qualify and the problem with the criteria is that it only takes into account set joints (fingers, thumbs, elbows, knees, trunk/hips), ther are a LOT of other joints small and large that could be effected, that are not included, you may even have a quite low score but be quite hypermobile in other joints, shoulders, hips, toes, ankles, wrists, spine, jaw etc. that is part of the problem with the beighton score and why the brieghton scale (may have got the names miced up - i.e beighton and brighton) was devised as it takes into account other things like arthralgias and things...

Have a look at the following links for information on the diagnostic criteria for HEDS...

http://www.ncbi.nlm.nih.gov/bookshelf/b ... &part=eds3

also know that H-EDS is ONLY one form there are multiple including - Vascular (the most severe form), Classic, Kyphoscoliosis, and MORE...

Also there are other disorders with hypermbility as a symptom such as Marfan's Syndroem, Loeys-Dietz Syndrome etc etc...

The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)

http://doi.wiley.com/10.1002/ajmg.a.33070

edit: fixed link

Thanks for all the info everyone. I went to my GP yesterday and was pretty surprised by what she said. She told me that the treatment would be the same no matter what connective tissue disorder I have and that there wasn't much point in chasing after a definite diagnoses. She diagnosed me herself with EDS and that was about it. I guess in a way she has a point, but I really want a definite answer. Also, I think it would be important to know as it could effect the way that other drs treat me in the future. I'm just so confused now.

I was told the same thing, but you are right, doctors do treat you differently when you have the correct diagnosis... I just got my diagnosis from Dr. Francomano in Baltimore in October, and I am already noticing the difference in the way the other doctors treat me.

Speaking of disappointing rheumy visits... I just went to a new rheumy and she had her "chief" come in to the room to see the "freak" (EDS patient)... lol. He came in and asked "what can we do to help you? You are already seeing the specialist, so you don't need us ... you should just see her." I tried to explain to him that the rheumy usually manages the care, and the specialist just consults. He said that my GP should do that and that I didn't need a rheumy. The woman I saw (Dr. Kiplee Bell in Philadelphia) was wonderful, but her "chief" was god-awful!

Wow devildog, that does sound like a disappointing visit. I'm glad to hear the rheumy you were actually there to see was good. Is she willing to manage your care or did she agree with the Chief?

It's amazing to me that rheumies are the ones who are supposed to manage EDS patients, but most don't seem to know much, if anything, about it. The crazy thing is, I really liked the rheumy I saw, but my GP knows more about EDS than she did.

After seeing my GP I had decided to just let her treat me and not worry about a definite dx. The next day I realized that I would never be satisfied with that! I'm going to contact the genetics clinic in my area to see what I can do to figure this out. They have a clinic that specializes in Marfans and other connective tissue disorders.

Oh yeah, when I went to see my GP she had a medical student with her. I heard her outside the door before they came in say "Now this is an interesting lady". I'm glad that I was there that day because the student had never heard of EDS. Hopefully she won't forget it!

hey jenny-
re the whole EDShypermob or HMS... I can pass you on the paper that jilly posted the link to the abstract to (thanks to devildog!!! ) if you pm me with your e mail address

in that paper 6 international connective tissue disorder specialists (and one of them is from john hopkins where francomano is) suggest that due to the lack of clinical distinction between HMS and EDShypermob these two labels should be united!

xxg

Goodness gracious this sounds JUST like my experience. My Rheumatology visit back in October was almost exactly the same. She told me that I couldn't have EDS because my skin wasn't loose enough and I couldn't lay my pinky on the back of my hand. Again, where is that in the beighton scale?!? So she diagnosed me with Benign Joint Hypermobility Syndrome. It amazes me that Rheumatologists aren't more knowledgeable about this!

I noticed that somebody mentioned a connective tissue genetic specialist at Duke? I live near Duke and the closest geneticist that specializes in connective tissue disease I found was at Wake Forest in Winston-Salem. Care to share your Dr.'s name? I have an appointment with the Winston-Salem geneticist in July 2010 and am on her cancellation list for an earlier appointment. I have tossed around the idea of calling Francomano's office to see if I could get in sooner, although going out-of-state and paying out-of-network ins. fees is a bother.

What is the opinion here?

Melinda -

If you can see Dr. Francomano, definitely do it. Absolutely worth any additional out of network fees. You will not be sorry. I have also heard fabulous things about Dr. Tinkle and he communicates with us EDSers via Facebook which is pretty cool.

Dr. Lavallee is the doctor who did the information CD for EDNF. He actually has EDS. I think any of the doctors who collaborated on this study are good options for anyone who cannot go see Dr. Francomano.

I am not sure which doctor is at Duke... the doctors in the study that was referenced are:

Brad T. Tinkle, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
Howard A. Bird, University of Leeds, West Yorkshire, United Kingdom
Rodney Grahame, University College Hospital, London, United Kingdom
Mark Lavallee, Memorial Sports Medicine Institute, South Bend, Indiana
Howard P. Levy, Johns Hopkins University, Baltimore, Maryland and
David Sillence, Connective Tissue Dysplasia Management Service, The Children’s Hospital at Westmead, Westmead, New South Wales, Australia

Hi! I did mention going to Duke. I also live near there (Raleigh area). I'm not sure of the doctor's name but they see adults and children at the pediatric hospital for genetic stuff. They even have a clinic that specializes in Marfan's and other connective tissue disorders. I found out about it through a google search, "Duke Medical Genetics" I think it was.

Unfortunately, they were not able to see me until April, after my insurance renews. I have already met my deductible so I needed to be seen sooner. So, I will be going to UNC instead. They have already been very helpful/communicative over the phone, and will be able to see me Jan. 4th! They were actually able to see me sooner, but I wasn't able to go until then. I will be going to the Cancer and Adult Genetics Clinic in Chapel Hill. I'm seeing Dr. Berg I believe.

Hope that helps! I will let everyone know how it goes. Wish me luck!

I am also in Raleigh. Wonder if we had the same disappointing Rheumy ...

Good luck with your visit! Let us know how it goes!

I called Dr. Francomano's office today to start the paperwork. I have an appointment at Wake Forest with a geneticist that specializes in connective tissue diseases scheduled for July, but I'll just cancel it if I can get in to see Francomano. I've read such glowing reviews about her, and have found few others that seem as knowlegeable. I'm tired of running into Drs. that just don't get it - so off to Baltimore I go! Wish me luck too!