Diagnosing JHS (HMS), EDS IV and Marfans

[JoyfulGirl]

hey folks...
as a complete newb, i've been reading up and speaking to people...
i explained to my doctor a few months ago that my spine keeps doing this weird thing where it feels like it pops apart for a brief moment... like pulling apart the beads on an elastic bracelet, it will just pop back together again. I guess this is the spinal equivalent of a sublux or something??? anyhoo, I was told by 2 different docs and a physio that this is completely normal!!!
?!*@! OK, so how come every time it happens I'm in excruciating agony, and every one of my friends who's heard about it just about vomits at the description?! lol. In my opinion (and I am by no means qualified), i would say that the spine is very definitely part of my HMS, and it is one of the areas that other HMSers in my family have the greatest of troubles with.
Good luck folks

[nonyanomemory]

Hi Joyfulgirl, a warm welcome the the site. Perhaps asking for a referral to a specialist in HMS for official diagnosis so that you could get appropriate help would possibly be useful. In your first post you describe family members 'down south' who are also hypermobile. Are any of those officially diagnosed.? Details of specialists can be found on the home page of the site. In the meantime - any questions feel free to ask or just browse the many existing posts to find some possible answers. I'm afraid a virtual diagnosis isn't possible. In the meantime Joyful girl Welcome.

nonya

[JoyfulGirl]

hey nonya, cheers.
yeah, I have two younger sisters and my mother, who have all been recently diagnosed with HMS. I was in the process of trying to get a referral when my housing application finally came through, so now i'm just registering with a new practice to start the whole thing over!
Until my sister got her diagnosis, none of us had ever heard of HMS, but things all seem to make much more sense since reading up about it....
information is power!!!
j.

[Guest]

Until my sister got her diagnosis, none of us had ever heard of HMS, but things all seem to make much more sense since reading up about it....
information is power!!!

Yeah I second That!!!!

Haven't been posting for a while been busy down under !
If anyone is interested I have put together a document which is posted in our Aussie Group re EDS III It's classifcation, signs and symptoms which also deals with hypermobility too. I am sending it off to our geneticist who tolde me that there was no such thing as Hypermobility EDS (and sadly he is the head of genetics at the Royal Chioldren's Hospital and is an Associate Professor whos "special interest area" is connective tissue disorders - oh dear!!!!) Hope it gets his attention and makes him read up a little more before he incorrectly diagnoses someone else. What are the chances of an assocaite professor listening to what I'm sure he will see as "an uneducated Mum" and achieving something? Oh well, there are lot's of other out there who deserve a correct diagnosis so I have to at least try.

Jules[/quote]

[Mari]

Good on you Jules!
Good luck with it,
Mari

[Guest]

I am sending it off to our geneticist who tolde me that there was no such thing as Hypermobility EDS (and sadly he is the head of genetics at the Royal Chioldren's Hospital and is an Associate Professor whos "special interest area" is connective tissue disorders - oh dear!!!!)

Argh . That's something to REALLY worry about. Can't they sent him back to med school?

[JoyfulGirl]

Can't they sent him back to med school?

Kick butt, that girl! I think half the profession need it. i heard of prof. grahame's book recently, "HMS for Physiotherapists"... I wanted to buy it and launch it through the window at my local physio dept. They told me that "HMS is not genetic", and "it only hurts 'cause you don't want to do it!!!"
grrrrr.

[Guest]

They told me that "HMS is not genetic", and "it only hurts 'cause you don't want to do it!!!"
grrrrr.

Oh suuuuuure. I really don't know what to say when faced with so much ignorance. Find another physio would most probably be the best thing.

[JoyfulGirl]

hehe, I was told to make another appointment on the way out, but when I got to reception there was a closed sign sitting there - I just took it as a sign & walked out. Maybe my new Docs will send me to someone nicer.

[Guest]

:twisted: Where do these idiots get these ideas??? They just make stuff up as they go along. Personally I think throwing the book through the window is a great idea (of course you want to make sure the window is open first as violence is never the answer despite that it may make us feel better sometimes), Joyful girl I certainly hope you find a more understanding and educated physio soon.

Jules

[Maskte]

Has anyone got any thoughts/feelings about this!! Having my diagnosis of HEDs at my daughters diagnosis (from Prof Grahame in London)I felt that at last we were getting somewhere as my daughter has been dragged round to different useless doctors over the last 5 years. I had no idea that our health problems were one and the same as no-one had ever given mine any name but arthritis and hers GROWING PAINS!!!! Anyway she was sent in the direction of Bath Pain Management course with me as her carer. We saw Dr J// C among others whilst on the course. When we went for the assessment Ehlers-Danlos was never mentioned except at the end when I asked Dr C// about the connection between HMs and EDS. She said there was a connection but as the assessment was at an end we left it at that. During the Pain management course Dr C// came for a session a week to talk about chronic pain and HMS among other things and again EDS wasn't mentioned. Hmmm? At the last session I mentioned my daughters diagnosis and that Prof G had diagnosed her skin as being plus 2 on a scale of 0-+3 of laxity and basically, very politely, she said that although she and Prof G. worked closely together they didn't agree on everything and she sees people in her clinic (in Bath) that can stretch their skin around their faces and hide behind it!!! That was it, explanation over!!! This is contradictory to what Prof. Grahame said and was the least helpful remark of the whole course. I feel as though I'm back at the very beginning again in my quest for an answer. Anyone else had such a marked difference in opinions between two doctors in the same field?? I know who I would prefer to believe, but if I do get referred back to Bath after seeing Prof Grahame, the same cycle is going to happen and confusion reign forever!! Take care all x

[Jenny]

This sounds awful, I feel very sorry for you both!

I have continually had conflicting advice, pain relief methods, etc!

I would suggest to go with the one YOU most feel it is as you know what the pain you/your daughter suffers is like. After all you are you're own doctor! Only you knows your own body and you are a specialist in it!

*hug for you both*

[Guest]

Hi All!

I wonder if someone can help me please.

I saw a rheumatologist last week regarding hypermobility which is aggrevating my pelvis injury quite severely. Not only was he extremely dismissive, patronising and failed to diagnose my pelvis problems at all (I have already been seen by Osteopaths, Chiropractors, Orthopods, Pain Clinics and Physios), the only thing he was willing to confirm was that I was hypermobile, but did NOT have hypermobility syndrome.

Can anyone tell me whether such a difference exists? And if it does, what is the difference?

I was not hypermobile as a child and it seemed to develop at around age 18, although this was dismissed too and I was (politely) told I was talking rubbish.

Having been told last week that he sees no resolution to my problems (not that I expected one to the hypermobility issue, but would like one to my unstable pelvis issue, where my sacrum points to 11 o'clock, the rest of my pelvis points to 1 o'clock and I go somewhere down the middle!), my only option seems to be to deteriorate (I am currently on crutches as I cannot weight bear through my left side) and end up wheelchair bound and then bed bound, which at the age of 29 is not good.

If anyone has any suggestions regarding my problems and queries, I would be delighted to hear!

All the Best
Kerry

[nonyanomemory]

Hi Kerry, welcome to the HMSA. I have read briefly your posts and it is a little late so am a little tired. Briefly - in reply, you sound more than a little desparate. Because I am not a doctor it is difficult to comment on the specifics of your diagnosis'. Did the rheumatologist say 'why' he felt that you did not have HMS/HEDS. Did he say that you had 'acquired' hypermobility as a result of the injury. Did he in anyway examine you with regard to the Brighton Criteria mentioned on the home pages of this site to ascertain that diagnosis. You do say in your first post that you mainly want to attend the Coventry pain clinic although in this one you mention that you have experience of pain management courses. One of the first things I learnt on a pain management course was that it wouldn't actually make any difference to my pain by continually looking for 'reasons' for it. Something I find difficult to 'get' but took on board by way of a general hypothesis. It may be that you were a little hypermobile as a child but it was only when you had the accident that the symptoms of the syndrome flared. Reading Professor Grahame's explanation on the home page does help to clarify the facts about hms/eds. it sounds as though like many with hms/eds you have done the rounds of different consultants and whilst in the ideal world it would be great if all rheumatologists understood the condition sadly its not quite the case. i wonder if a referral to one of the specialists would help for clarification. Dealing with the pain and debilitation is hard and reading through posts does help but the community here is supportive and no one ever doubts the reality of the ramifications on ones life of living with hypermobility, whatever the cause.

nonya

[sanguine_emma]

Hi kerry,

Sorry you got the brush off - not helpful. Could it be that your dismissive and patronising rheumatologist at the NOC is the same as my dismissive and patronising rheumatologist at the NOC (see my post in this section 'surviving despite horrible rheumy' and see if it rings any bells !) ? Seems likely judging by your report of the interview. After complaining to my GP about being brushed off, she has agreed to refer me to the hypermobility clinic at UCH. From what others have said, this should be a very different experience. Perhaps your GP would do the same for you?

Re the injury, not much I can offer but sympathy and I'm also 29 going on 89 at times.

Love emma xx