HopeSprings Posted March 27, 2013 Report Share Posted March 27, 2013 So last time I saw the geneticist she couldn't decide if I have EDS. Today I went back armed with pictures of myself doing Beighton moves and we counted somewhere between a 4 and a 6 - she couldn't decide about my legs which is why I don't know if it's a 4 or 6. Don't they have some way of measuring this?? I also found pictures online of EDS diagnosed people doing other moves and duplicated some of those to show her. I really never considered myself flexible, so was surprised that I can do many of these. I felt dumb bringing in these silly pictures, but she actually found them useful. She thought the uterine prolapse was significant and thinks some things with my skin point me to classical EDS, but STILL wouldn't officially diagnose me. She said I might just have lax ligaments. So apparently lax ligaments don't necessarily mean EDS? My Veds test was negative and now we're testing for classical, even though I understand it may only pick up 50% of cases. She doesn't seem to get why I so desperately want an answer. I once again told her I'm trying to find the underlying cause of my POTS. She said not everyone with EDS has POTS. I said, I know, but an awful lot seem to - it has to mean something. She does think I have a connective tissue disease, but didn't elaborate or offer to look into that more. Before I left I wanted an answer and directly asked her if I have EDS or not. She said she needs to look at all her notes and she'll write up her opinion to be given to me at a later date. WHAT THE???? Help. Quote Link to comment Share on other sites More sharing options...
azmusiclover Posted March 27, 2013 Report Share Posted March 27, 2013 Unfortunately it seems like they have a hard time diagnosing it. I have a high Beighton score and I have had 4 miscarriages, 3 premature births, MVP, 7 sets of ear tubes, multiple surgeries for endometriosis etc and the rheumatologist still calls it "benign joint hypermobility syndrome" I am so sorry that the geneticist won't be more definitive. They just don't get that people have a need to know what's going on and want to have a reason for why their body is doing what it's doing!!!! Sorry I don't have much help to offer on this, but I have complete understanding of your frustration. Quote Link to comment Share on other sites More sharing options...
HopeSprings Posted March 27, 2013 Author Report Share Posted March 27, 2013 Geez, musiclover, that's crazy! I wonder what differentiates benign joint hypermobility syndrome from EDS? Quote Link to comment Share on other sites More sharing options...
Katybug Posted March 27, 2013 Report Share Posted March 27, 2013 I think it depends on which doc you go to. The geneticist I went to didn't hesitate with me. Her biggest question was whether it is classical or hypermobile in my case. On the EDS forum I belong to, there was a discussion at one point about how docs are hesitant to give patients the dx because having a patient with this dx increases their liability because we are harder to treat and have special needs when it comes to meds, anesthesia, procedures, etc. A poor excuse I know, but I unfortunately believe it has probably happened to many of us. Plus, many docs hate that most EDS diagnoses are clinical as they have not figured out what genes cause several of the types. Quote Link to comment Share on other sites More sharing options...
azmusiclover Posted March 28, 2013 Report Share Posted March 28, 2013 It makes sense, as I went through a lot of that with my daughter- no one wanted to give her a diagnosis of anything! She's still "undiagnosed with an unknown genetic syndrome of inborn error" at age 3. I keep telling the geneticist she looks like she has autonomic issues to me. It does make a difference though in how we are treated so I think it is important to have an accurate diagnosis. I may seek a second opinion on the EDS front. Quote Link to comment Share on other sites More sharing options...
SpinnyC Posted March 28, 2013 Report Share Posted March 28, 2013 I also wonder what the difference between Benign Joint Hypermobility and EDS are. And frustratingly the answer seems to generally depend if you're talking to a Rheumatologist or a Geneticist. Quote Link to comment Share on other sites More sharing options...
Chaos Posted March 28, 2013 Report Share Posted March 28, 2013 I also wonder what the difference between Benign Joint Hypermobility and EDS are. And frustratingly the answer seems to generally depend if you're talking to a Rheumatologist or a Geneticist.True. And even then a lot of docs are saying that EDS-Hypermobility type (type 3) and BJH syndrome are one and the same... at least until they can find the genes that prove that they are different. Quote Link to comment Share on other sites More sharing options...
HopeSprings Posted March 28, 2013 Author Report Share Posted March 28, 2013 Another case of waiting for science to catch up to us. Peter Rowe has been connecting the dots between OI, CFS and EDS for quite some time. I just wonder if EDS is a more serious and involved condition than some Doctors realize. Quote Link to comment Share on other sites More sharing options...
Chaos Posted March 28, 2013 Report Share Posted March 28, 2013 Naomi- I would say it's definitely much more serious and involved than the vast majority of doctors realize. Quote Link to comment Share on other sites More sharing options...
brethor9 Posted March 28, 2013 Report Share Posted March 28, 2013 I actually just went through this with my specialist....like you Naomi I never realized I had any hypermobility and I have a lot of the skin symptoms. I was given a skin biopsy and was just informed a few days ago that the pathology came back positive for EDS. So I guess I am one of the cases that they could catch through skin biopsy atleast. The only thing I am worried about is that they did not stipulate whether it was positive for vascular or classical. I also now have to see a geneticist for further mapping. So I am now officially one of the unlucky ones that suffer from the triple three; MCAS, POTS and EDS......yay Bren Quote Link to comment Share on other sites More sharing options...
HopeSprings Posted March 28, 2013 Author Report Share Posted March 28, 2013 Bren, it stinks, but at the same time at least you have concrete answers now. I think I'd feel more peaceful if I at least knew what was going on! Doesn't the test you had done differentiate which type of EDS? The geneticist mentioned the skin biopsy, but said the blood test looks at the same thing -DNA- so the blood test is just as good and she didn't seem into skin biopsies. Let me guess... she's wrong? And when I said to her the test for classical only picks up 50% of cases, she didn't seem to know what I was talking about and wasn't worried about accuracy of the test. I don't understand - how does this Dr. not know basic information that I'm picking up so easily off the internet? I had this image of "Geneticist" as all knowing, super smart Doctor who would know so much and she doesn't! I'm still waiting for a price on the test - I have to pay 10% and as it stands they charge insurance 9000.00 which would make me responsible for 900.00. I can't afford that and especially not for a test that is only 50% reliable. I'm assuming the contracted rate is MUCH lower and if so, I may be able to afford it. Meanwhile my blood sits in the Doctor's office refrigerator. Sorry, that was a bit tangenty. This is just frustrating, it just feels like every.step.of.the.way I'm trodding through thick, thick mud - nothing is ever simple. Quote Link to comment Share on other sites More sharing options...
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