By Sharon on Thursday, January 04, 2001 - 04:44 pm:

Hi,
I am a 29 year old female who lives in Australia and am hypermobile. I was never told that this could be a problem but I have had chronic pain since age 12 when I was diagnosed with a Sacro-Iliac problem (tore the muscles off the bone, doing the splits in Ballet training) and Juvenile Rheumatoid Arthritis my right leg is now shorter than my left and my right side of my pelvis is lower. I have had my left knee ACL reconstructed twice, I scar easily but not chunky or anything just silvery, My knee's click and feel weird a lot of the time, I get sore in the chest and it hurts to breath, my jaw locks and slips, I have subluxed my right shoulder too many times to count, I am klutzy and always bumping into things and tripping over etc, I always seem to have at least one injury and a few bruises (but I don't know how I get them) and know the doc's here think that I have torn the ligaments in my right wrist by twisting it, I also have silvery stretch marks but am not really overweight and they have been there as long as I can remember. My main problem is that they never tell me what causes this and since looking on this and other sites I am guessing that I either have Hypermobility Syndrome or EDS type III but I recently talked to my mum's rheumatoligist and he reckons that I can't have EDS because I don't have really stretchy skin ?? Can anyone help me this is driving me nuts. My other problem is that I have had a diagnosis of Reflex Sympathetic Dystrophy in my right shoulder and left leg for the last 5+ years and with RSD they say absolutely NO bracing but with the hypermobility syndromes they say bracing (I sometimes already look like ROBOCOP) what with the knee braces, shoulder sling, ankle brace, wrist splint etc etc I always thought that everyone was flexible I mean my sister and I used to sit in Lotus position and then chase each other around the house in lotus position and thought that everyone could.I am also HLA B27+ which I have been told is a type of antigen on cells that seems to make you more susceptible to arthritis and achy. I have a heart murmur (an aortic flow murmur or minor mitral valve regurgitation). And that is just to name a few of the problems that I have had.

Could someone please tell me how I could go about getting a diagnosis. And all of my problems just seem to be dismissed as either in my head (but hey I am in my body) or related to my RSD even though they feel different or they are taken independent of each other and I seem to feel like the doctors think that I am a hypochondriac, or just attention seeking.

Thanks Sharon

By Lynn on Friday, January 05, 2001 - 05:45 am:

Sharon- I hope some of the more knowledgable people will respond to you soon, but in the meantime, I suggest you visit several additional sites: www.Ednf.org, www.Ceda.ca, www.Hypermobility.org, and www.ehlers-danlos.org are all good sites. You need to educate yourself and find a new doctor!! The fact that you don't have stretchy skin does not rule out a diagnosis of EDS/Hypermobility. You have enough symptoms that you should be evaluated (maybe by a geneticist). These various sites may help you find a nearby support group, and they may be able to help you find a competent doctor. You are not a hypochondriac!Good luck, Lynn

By Lynn on Friday, January 05, 2001 - 05:51 am:

Sharon- I should have researched before I replied to you! Here's the Australian web site- www.edsv.homestead.com Good luck, Lynn

By Bianca on Sunday, January 07, 2001 - 02:46 pm:

What you tell Sharon sounds a lot about Hypermobility Syndrome. By the way I found an interesting article in The Journal of Rheumatology. It is about the Brighton scale, but I cite on one place: "From the clinic perspective there is as compelling evidence that the hypermobility type of EDS (formerly EDS III) and the BJHS ( Benign Joint Hypermobility Syndrome) are one and the some." ( The Journal of Rheumatology 2000,27, 7: Classification Criterias The revised (Brighton 1998) Criteria for the Diagnosis of Benign Joint Hypermobility Syndrome)
I don't know where you can find the Brighton criteria on the Internet, but when you can find them please have a look and maybe you fell better with them than with the Beighton scale.
Then there are types of EDS which are not much connected to skin fragility or hyperextensibility like the Kyphoscoliosis Type.

By Valerie on Monday, January 15, 2001 - 08:21 am:

Dear Sharon,

You need to see a Geneticist. It sounds to me like you have EDS Hypermobile Type. This type's main symptom is in the joints. You need not have stretchy skin to have EDS. You do have skin manifistations - easy bruising and scarring. Since this is a "syndrome" the degrees of different manifistations as well as the manifistations themselves differ with each individual. The classifications are basically done by the major symptoms. For instance if a person has major skin involvement they would be classified as Classical Type, major joint involvement would by Hypermobile Type.

There are many Hypermobile EDS people out there that don't have stretchy skin. I am one of them. I bruise easily and have only recently been scarring easily. Two Geneticists pointed out a mass of other lower rated symptoms though that all together pointed to EDS.

It would be up to you of course as to whether to pursue obtaining an EDS diagnosis over a Hypermobility Syndrome diagnosis. There of course is the issue of passing it on to children but for me it also made the docs take me more seriously. When I was diagnosed with "Begnin Hypermobility Syndrome" (which is the official title of it) the docs would just say - you shouldn't be hurting, you shouldn't be having any problems, it's 'begnin', so what you're joints are loose. Now with EDS it's recognized that there is pain, that I am having problems, etc. Of course you are always going to run into a doc who says "all you have to do is work out and strengthen the muscle around the joints and you'll be fine". Sounds good in theory but as an ex-avid weight lifter/body builder I can tell you first hand it doesn't work.

Well this is quite long enough :-) I hope you get what ever info you need to give you piece of mind and help your condition.

Hugs,
Valerie
HEDS

By Sharon on Monday, January 15, 2001 - 07:26 pm:

Valerie,
Thanks for the Info. I am trying to look into seing a geneticist but am not having too much luck with referalls etc so far, as I live in Australia there doesn't seem to buch info in the medical profession here ??? but I think that I need to find out, not just for me but I think that it is possible that at least one of my neices aslo has symptoms and as yet she is only 5 so mabe we could stop/prevent major damage to her. I also have the chronic pain side of it but as I was diagnosed with Reflex Sympathetic Dystrophy 5 years ago they put it (the pain) all down to that , I do havbe some of the symptoms of this but I think some of them are also EDS III
Thank You very much for your help
Sharon :-)

By Nancy Robbins on Wednesday, March 07, 2001 - 10:37 am:

I just took my 11yr old son to the Dr's as he fell at school & thought he dislocated his shoulder. After X-Rays they showed no dislocation but in talking to the Drs. what I thought was my son just being double jointed,it seems he might have Marfarn's Syndrome. My son can turn his foot backwards,he can dislocate his shoulder,turn his thumb backwards & pull his fingers back almost touching his hand he can also contort his shoulders, When he was younger he started having chest pains & the Dr said they were growing pains, We have a new Dr. now but I never thought much more then the growing pains. When talking to the Dr. today he said he would get more information on Marfan's and see if my son should be checked over. I'm trying to get as much info as possible so I can be informed. If any one has any info for me please let me know.

By Kathie Gadd on Wednesday, March 07, 2001 - 12:49 pm:

If you go to http://www.hypermobility.org/links.htm and click on Marfan you will find several links to good Marfan sites