By Sharon on Tuesday, April 16, 2002 - 05:08 pm:

I saw a geneticist last August who told me I was Hypermobile (5/9 on Beighton Scale) and had a hereditary/genetic connective tissue collagen disorder. I have been told by numerous other doctors all my life (well most of my life) that I am hypermobile and I believe I AM Hypermobile (hands flat on floor, thumbs to wrists, my shoulder twist like nearly all the way around so my arms are pointing wrong way etc etc etc) and after seeing a second Geneticist on Monday (who is supposed to be a specialist in Hypermobility disorders) he tells me I am not Hypermobile at all as my joints don't just flop there (ie. My thumbs don't just flop against my wrists etc) and they said I only have (3/9 on scale) and that I can't have EDS etc or any other of the hypermobility problems because I am not Hypermobile and I don't have stretchy or soft velvety skin. So why do I sublux, dislocate suffer from so much joint and muscle pain, have bruising problems, scar so easy, tear my ligaments easily, burts my eardumbs easily, so flexible, and suffer from most of the other symptoms seen here. I just don't understand this. I am a 31 (today) year old female living in Australia and I am now sooooooo confused, the specialist did nothing but confuse me further. He told me he doesn't know what to do with mew or who if any one can help me, he doesn't know why my body is doing what it is doing and seemed only interested in my childhood history of Arthrits and family history of Autoimmune disease but neither arthritis or autoimmune diseases (the ones in my family) cause dislocations, subluxations etc and anyway my blood tests have been coming back negative to these disorders since I was like 15. So can anyone help me in knowing what to do next or even what to do now. I am at a totla loss I just don't know what to do, and I can't keep going on like this.
Sorry this is so long but I am really confused and angry and frustrated now

By Myke on Tuesday, April 16, 2002 - 10:40 pm:

Second (or 400th) opinion time?

By Sharon on Wednesday, April 17, 2002 - 01:04 am:

YEs I guess so Myke but there are no other geneticists etc in my area to get opinions from. I just simply don't know what to do next. To see the last geneticist I had to fly to Sydney (1hr flight)and then catch a train (1 1/2 hr trip) to see him. I have seen the ones here in my state and no luck this guy I saw on Monday is Supposed to be the best the specialist in these types of disorders. So what do I do. I don't know of any other geneticists or what doctors to see next ??? any suggestions ??????????
Thanks for your help anyway

By bree on Wednesday, April 17, 2002 - 05:44 am:

So sorry to hear that this geneticist has only made you more confused Sharon! I can understand how angry and upset you must be about it, though. I just got 'kicked out' of the clinic I've been going to last week - they told my I have chronic fatigue in addition to my hypermobility and my fybromyagia, and then told me not to bother coming back! - and that sent me into a real downward slide. I'm assuming you're feeling something similar. It's so weird what this geneticist has told you. If there was some other disease besides hms/eds that causes dislocations, sublaxations, etc. you'd think we'd have heard about it on this website by now, wouldn't you? As for this thing about joints not 'just flopping' - well only some of my joints 'flop'. And, most of my sublaxations/dislocations are not when I'm still and my joints 'just flop'. This does happen, but most sublaxations/disolcations are when I try to move and the joint just suddenly comes out too far. I guess I don't understand what he's on about either. I really wish I had some suggestion for you, but I'm struggling to come up with things to try myself. And, of course, with these awful thoughts about not being able to go on like this. I'm going back to the rhuematologist who initally diagnosed me next week, hoping she'll have something to suggest, so if by any miracle she does I'll let you know.

By Sharon on Wednesday, April 17, 2002 - 05:07 pm:

thanks Bree
He siad that I was only hypermobile if my joint juist sort of flopped or fell into the "position of hypermobility" it thumb against forearm etc with out any help from other hand etc whereas my thumbs only touch my forearms if I use my other hand to "guide" it the last 2-3 cm's.

By Myke on Wednesday, April 17, 2002 - 08:58 pm:

Well that makes little sense... Actually, it would seem like the Dr. hasn't thought about the fact that if you're not built to bend that way... there's not usually going to be any muscles to cause that motion... Hypermobility is the ligaments... not muscular... (like you didn't know)

Sounds pretty ignorant to me really.

Then again, my only real Dr.'s commentary about Hypermobility was with my dentist and my sport's physician... never more...

What's the benefit of seeing a geneticist?

By Sheena on Thursday, April 18, 2002 - 04:24 am:

Sharon, My children and I were examined by Prof Grahame (who is the expert on HMS in the UK). He did not require the thumb to "flop" against the wrist - so long as you could move it into that position without pain, it counted. Same for the other joint tests.

By Erika on Friday, April 19, 2002 - 01:31 pm:

Sharon,
I know how you feel. I am 28 and was diagnosed 1 yr ago w/ eds3. I went to dozens of doctors who never found anything. I thought I was crazy. my ribs dislocate poking me my hips pop out and so on. I still occasionally get a doctor who tells me it's impossible to dislocate without severe trauma. Anyway the reason I wanted to write is because being diagnosed or not I don't think makes much of a difference. If you are informed about the best treatments and or surgeries for people with connective tissue disorders you should be okay. basically knowing what won't work and not having any unnnecessary surgeries. If you see a good orthapedist who is willing to learn with you that can be a great help. Good luck I'll
write again but now I hurt.

By Dawn S. on Friday, April 19, 2002 - 03:33 pm:

Sharon, sounds like you ran into one of the the 99% of medical personnel whose only knowledge of EDS or hypermobility was for a definition of EDS Classical type, (old type 1) they learned in medical school. There are several types and many variations in severity and symptoms, both between individuals and over time. I actually had a podiatrist (foot doctor), ACTUALLY DO RESEARCH on EDS before she did surgery on me this week to fix an ingrown toenail. I told her I had EDS hypermobile type when I met with her a week before the surgery and she researched somewhere (I don't know where) and found that people w/ EDS do not react to local anesthesia the way "normal" people do and they need more local anesthesia put in and to let it sit for 5-10 minutes to let it take effect. (I already knew that.) However, she found some research that said our bodies are more acid I think she said, and as a result, the acid in our bodies deactivates some of the local anesthesia and that's why we need more local anesthesia. She said that when we are injected w/ local anesthesia they use a half and half combo of short acting and long acting anesthesia. The short acting stuff starts immediately and wears off in an hour or two. The long acting stuff starts working in about 5 minutes and lasts for around 12 hours... I was impressed by her desire to research it and be prepared for my surgery... However, she is a young doctor just out of training... She knows how to use a computer and she is a recent med school graduate. Maybe we should be looking for the young computer literate doctors. I went to see a geneticist in 1988 to see if I should have children given my medical problems-asthma, "double jointed" (I didn't know what it was at the time), and severe migraine headaches. They did very little checking and just said that given the high occurrance of the "double jointed problem" in my family, it was "likely a familial dominant trait that would result in a 50% chance of my children getting it, but it was not a major issue and should not interfere in my interest in having children." I agree that I was able to have a child, but they did no research. They apparently just read my questionaire and commented on it... To a lot of doctors, patient care is just a job. I think if they can't fix you and other than Prolotherapy treatments that help, but don't cure, they can't fix us, so they don't want to deal with us. Modern medicine wants to throw a pill or a surgery or a treatment at you and if it works, great, they have succeeded, if it didn't work, they try other things til they find something to work. Nothing can "fix" us and so they can't be "successful" on us. It probably is depressing to have us as patients. We have chronic pain, which usually eventually causes depression and then they have to deal with that too. A lot of people don't want to admit to that, so the doctor thinks they have a bad attitude... They would too if they had to deal with this... I personally think there is something our bodies lack that promotes healing. I dislocated my shoulder almost 2 years ago and I was able to get it back into position myself, right after I fell. I had NO PAIN, NO SWELLING, but eventually I had to have surgery to fix it, so it's not like there was nothing wrong. I knew it was totally unstable, but it didn't hurt. Swelling brings healing. Think about Prolotherapy-it creates inflammation to create healing. My doctor said I did not respond normally to Prolo (I was his first hypermobile patient) because I wasn't in intractible pain after the treatment. Most Prolo patients need heavy duty pain meds to deal with the pain from the treatments. I took regular Tylenol and was fine. I had no swelling after the shoulder surgery and had minimal pain... I just had the toenail surgery and had no swelling and no pain post op although the doctor said I would need to take pain meds consistently every 4-6 hrs for a week... Not that I have no pain at all, I have to take Anaprox to reduce inflammation to keep pain at bay, but I just take it in the morning and that's it... I wish someone would do some research on pain/inflammation/swelling on hypermobile patients. I'm sure I'm not the only one who has gone to the emergency room after a joint injury where we dislocated or stretched out the ligaments in the joint and although it may hurt, we can function with the pain and the joint "looks" normal. When an average person has the same injury, they are SCREAMING in pain and the joint is very swollen and probably all bruised up. We don't have that, so they assume we are hypochondriacs out for attention or it's a very minor problem. Dislocations that have been reduced don't show up on X-rays...Is anyone doing research on this? It may give some clues as to what can be done to help OUR bodies heal themselves and what maybe could help OTHER people with chronic pain reduce the intensity of their pain...Just a thought...Sorry it's such a long one...

By Sharon on Friday, April 19, 2002 - 06:19 pm:

Erika,
My problem is with getting a specific diagnosis as such but with being told I was Hypermobile and had a herititary genetic connective tissue collagen hypermobility disorder by one geneticist and then being told I am not even hypermobile by the 2nd and that my dislocations, joint pains, easy bruising, heart murmur, easy scaring, etc have nothing to do with Hypermobility because I am not Hypermobile at all. So how can I be hypermobile with one (well many docs in past up until the day i saw him and then not Hypermobile then) I know I am hypermobile and have been told it most of my life. So who is right the 1st geneticist who says yes I have a hypermobility disorder or the 2nd who says I am not even hypermobile ???? I think that part of my problem too is that even with out the hypermobility problems my medical and family medical histories are compicated and scare most doctors as they haven't even heard of them or don't know what to do with someone with these problems as the 2nd geneticist just seemed to talk about my history of childhood athritis the fact that my Mum has Sjogren's and that my Grandpa had SLE but my Mum, grandmother, sister, brother , neices and nephews are all hypermobile to some degree and some of the kids are starting to show some of the probolems that i had in childhood with joint pains etc and not being beleived. I don't want them to go through what I have been through. I need answers so that they can get help now (they are all under 11 and there are 7 of them)wqith not doing the destrucive things that I did as a kid (party tricks and the sports I did) and can get help with appropriate sports etc NOW and help if they need it with school etc.

By Erika on Saturday, April 20, 2002 - 04:59 pm:

Sharon,
I have 3 children under 8 two of which are extremely hypermobile. I try to make sure they stay within normal range of motion and tell them never to do party tricks. believe me I know how frustrating this is. even with diagnosis I have found little anyone has been able to do to help me. As for my children i always believe their pain. I let them decide what they are up to doing and not doing. They do not play contact sports.
For me finding as much info as I can such as from ednf.org has been the only thing that helps.gotta go hands hurt will write again soon

By Molly Rose on Friday, April 26, 2002 - 03:25 pm:

Have been diagnosed with Hypermobility since the age of 14 years - most joints in body affected. Hoping to start a family - does pregnancy make condition worse- Also, does anyone experience excruciation pain when having blood tests, injections etc.

By DENISE on Sunday, August 04, 2002 - 08:01 am:

Hello everyone! Reading all your letters is totally freaking me out! My 3 1/2 year old son was just diagnosed with hypermobile joints, and that was all that was said. Should I be worried about dislocating joints? He does have alot of pain in his legs and sometimes his back and he is extremely flexible. We were also told that he has arthritis, but I am still skeptical about that. Does HMS cause your joints to inflame? What type of specialist should we be seeing? Help!

By Sharon on Sunday, August 04, 2002 - 05:43 pm:

Denise,
Probably a rheumatologist as they seem to be be the docs that we come under (also the doc that athritis is under). I have both (well i had juvinille rheumatiod athritis at about 12 and was diagnosed with genetic hypermobility connective tissue collagen disorder last August (at 31)