Diagnosing JHS (HMS), EDS IV and Marfans

[Rosie]

Hi goddess

Trying to put it simply, HMS is Hypermobility Syndrome and there aren't any sub-types. HMS is usually considered to be the same as EDSIII (or EDS3 or HEDS or EDS - hypermobility type). So there are loads of names for the same thing. If you have been diagnosed HMS then other connective tissue disorders like Marfans or the other types of EDS will have been ruled out. They have different symptoms to HMS, although there is some overlap. there are genetic tests for Marfans and some types of EDS, but you have been diagnosed HMS because that is what your symptoms show.
The reason why EDS3 and HMS are now thought to be the same is because they have the same symptoms.

Rosie

[Lollypop]

HI, just read through all your posts! Very interesting.!
Can I ask who would you all say would be most qualified as a specialist? I have jhs and in constant pain, I have the veins and weirdly never had stretch marks from any of my 6 babies on my belly, but have many stretch marks in weird places. like on my arm where I have bad Carpal tunnel! and hips... I have loads of thread veins around my ankles since I was a teenager, and have veracious veins from pregnancies on my legs.. even then I was told I am too young to have it. Just recently discovered that it's apart of the syndrome. also have IBS! ?? and have suffered with heart palpitations to the point of feeling as though I will pass out (I have learned to control them though) Now surely this would be controversial as having skin problems and internal problems associated not by just jhs/hms! therefore there must be some truth to the theory relating to eds! I am not very tall or skinny, or have relevant features like Marfans. I do have normally low blood preasure except in pregnancy! I get to the point where I can't even just stand up and stay still for more than a minute.. It hurts too much! So Benign my (A**) lol

Lori x

[Rosie]

Hi again

The benighn in BJHS just means that it is not life threatening. Unfortunately many people take it to mean that it is not serious. This is one of teh reasons why the term BJHS was dropped. By a specialist, we usually mean either one of the HMS specialists listed in the main site, or a rhuemy or physio who specialises in HMS, many of whom work in the HMS clinics. It is pot luck whether there is a HMS specialist in your area, and more pot luck if your NHS trust will allow you (ie pay for you) to be seen at a specialist clinic outside of your trust area. They all have their own rules.



Rosie

[ladybirdscot]

one other thing i didn't mention -i'm hypersensitive to certain sounds. Is that just me or likely to be linked? It seems somehow too convenient that all of the health complaints i have can somehow be explained by the HMS!

Hi and welcome! I know exactly how you feel about all the things you used to just put up with because you thought you had a 'sensitive tummy', 'hypersensitivity to certain sounds' and are more flexible than most and you now find it all seems to be related to HMS. I was amazed at the related issues when I first joined the site (even my build and bad eyesight!)

I have to agree about the hypersensitivity to sound too. I have the TV quite loud when I'm particularly interested in something that's on because although I can hear it, it seems too distorted to listen to comfortably unless its loud. I hope that makes sense! So the TV is blaring out and yet I can hear my daughter's mobile phone vibrate from the next room!! I am sometimes asked why the TV is loud and if I say because I can't hear it otherwise (to save a lengthy explanation), I feel like such a liar when I suddenly announce to my daughter that she has just received a text and no-one else heard it.

When I was younger, I was also very sensitive to aerosol sprays, not so much since they changed so as not to destroy the ozone layer so quickly but when I was a teenager, I had asthma attacks when my sisters sprayed their hair! I am also sensitive to oil based paints - they make me wheeze. If you look long enough on the site, you'll probably find lots more symptoms too!

[Lollypop]

mod edit - text removed

Wow I am exactly the same with the sensitivity!!
Lori x

[StandFree1903]

I was told I have hypermobility by my physiotherapist when I was getting physio on my arm.

Should I make an appointment with my GP and explain that she has said this as I haven't really had a proper diagnosis.

Would be good to know what to do I suppose ad I am getting alot of pain from it all.

[dragondee]

You could check the criteria for HMS on the main site.
There is alos a lot of useful information about diagnosis on the boards.
If you think you fit with the criteria, speak to your GP and try and get a referral to Prof G or one of the other HMS clinics.

Dragondee

[notsparklynow]

Hiya

I had my follow up appointment today and was told that I have fibromyalgia as well as HMS. I have to wait to find out about pain relief, and in about a month I'm going back- the consultant said that I might have to have physio or hydrotherapy. Don't know much about it. So - more waiting.

[juliepops]

Hi notsparklynow
Thought this might help with the coping with school bit. I am a teaching assistant and have been off work for last 6mths.If you are employed by your local authority then you should be able to refer yourself or ask your head to refer you to Occupational Health services. I have found them really supportive. They are there to manage your return to work and inform your head of any adjustment to your job and/or working environment which may help. For example last time I returned from a period of time off OH recommended an appropriate chair to use in the classroom. Through this service all my work colleagues know that I have to be careful with certain things and even the children (yr2) soon got the hang of coming to me instead of me leaning or stretching across a table. I now don't do playground duties as the thought of 200 4-7 year olds racing around made me feel a bit unsafe on my legs!! Actually a spin off of that was that another member of staff, who had also had health probs and couldn't do playground duty either, and I organised setting up a "quiet play" area where children who either needed to stay in or who weren't coping in the playground could sit with us and do quiet activities.These are just a few examples but it shows there are lots of little things you can do to help your working day be more comfortable and less stressy.
Hope this is helpful

[Twinkling Star]

Hello everyone,
I am quite new here. I am age 54. I was diagnosed with Joint Hypermobility when I was 13. I was born with numerous minor skeletal deformities. I had 10 minor operations on the toes and feet because of the deformities. The 10th operation (at age 15) I suffered an adverse reaction to the anaesthetic. I also developed a Neuroma in my right foot (diagnosed at age 15 within 3 weeks of the 10th op.). It also left me with Causalgia of the right lower quadrant (from my foot up to under my breast).That was not diagnosed until 1987 (age 31). However, because my parents had threatened to sue when I was age 15 all things showing any indications and diagnoses suggesting or confirming I had anything physically wrong were removed from my G.P. notes. I have recently requested a full copy of my G.P. notes. I have written to almost every Consultant and Doctor who I have ever seen and paid to get my notes from each one. As a result I also paid to go back to see the Consultant I had seen in 1987 as I discovered that he had diagnosed the Causalgia and the Hypermobility back at that time. I have travelled 700 miles to see him. He has made a very detailed report. Re-confirmed the Causalgia. Diagnosed me with constitutional Joint Hypermobility Syndrome. I scored 7/9 on the Beighton score which I believe is pretty high for age 54. He also pointed out that I used to be able to put my thumbs back to my fore-arms. I also meet all the criteria on the Brighton score. I have an arm to height ratio within the Marfan range i.e. 1.0577. I also discovered that I had been diagnosed with IBS years ago. I also have Hep. C (diagnosed 1995) which I developed after a blood transfusion of 6 pints of blood which I received when I was 18. I feel I need to get Marfan Syndrome and all the related disorders excluded. Shame the Doctors would not listen to me. When I was 18 I made a list of all my symptoms and divided them into two groups. I called one my "Liver/Kidney type symptoms" and one I labelled my "Neurological type symptoms" (even though this included my skeletal deformities). I studied every medical book I could find. 3 months later I told every Doctor I saw that there was only one possible diagnosis for my first group of symptoms - that was Hepatitis. They should have diagnosed me with non A, non B type Hepatitis. For the second set of symptoms (this was more complex) I had 5 things on the list. Top of my list was Marfan Syndrome. Second on my list was damage from the 10th operation. 3rd on my list was Joint Hypermobility. So I was correct with the Hepatitis, correct with the Joint Hypermobility Syndrome and correct with the damage of the 10th. operation. All I need to know now is to feel satisfied about the Marfan Syndrome and other related disorders. Does anyone have any experience of any Consultants in the North of Scotland who they feel would test me for these conditions. Inverness is my nearest, Aberdeen is the next but I would be willing to travel anywhere in Scotland. Just want a link to someone who has a nice, thorough Consultant who would be prepared to do the specific genetic tests. Hard for me to just trust my G.P.'s to refer me. Rather have a name of someone who specialises in Marfan Syndrome and in the related disorders. Oh pm me if this is not allowed to be discussed here. Or eMail me: {mod edit - email address removed, to email this member please use the mail button on this post}
Thanks everyone. Keep Smiling! or in my case Keep Twinkling!!
Hugs to you all.
Twinkling Star

modnote: merged with existing diagnosis thread

[cuddles]

Twinkling Star
I know of someone else in your neck of the woods who has gone to Aberdeen to see a Geneticist for Marfan's diagnoses
He is still waiting for results etc , but this maybe a route you may wish to take due to you mentioning Marfans yourself x

xxxxxxxxxxxx

[lea197]

Can anyone advise what i can expect when i go to triage at all as i am a bit worried about it i have not got my appointment date yet as doctor only sent letter off on the 5th august even though i saw her on the 9th july.

sorry if this has been discussed elsewhere i did try looking for a section on triage but got nothing.

it would be good for someone to advise what treatments they discuss with you or what other suggestions they are likely to make at all.


modnote: merged with existing thread. You seem to be referring to diagnosis, not triage - that's what happens in hospitals before diagnosis to determine priority. Your questions should all be answered in this thread.

[pulliptears]

I am posting here at the end of my tether having suffered 30 years of "Growing Pains". While watching a TV program the other night I had a bit of a lightbulb moment and realised that I was Hypermobile, and it probably explains everything. Let me explain.

As a small child I had knee pains, pain so bad that I would often tie a dressing goon cord around my legs to cut off circulation. I was pushed from Doctor to Doctor, poked, prodded and X Rayed and finally given the diagnosis of 'growing pains'. I realised somewhere in my late teens that this probably wasn't the case and another family Doctor, without really looking into it told me I probably hadn't got enough fluid cushioning my knee joint.

Since then I have been in pain on and off dependent on what I am doing. Its mostly in my knees but can also appear in my wrists and elbows. Added to this almost every joint I have from the neck down (and also my jaw) cracks loudly and often very painfully.

Over the last 6 months the cracking has worsened along with the pain. I finally went back to the Doctor who shrugged and prescribed Ibuprofen. I am now at the stage where I cannot move without some part of me making a resounding crack that is audible to the whole room. I'm sore, not sleeping and thoroughly fed up.

Last night I did the Brighton test scoring 8/9. I will also add I was diagnosed with Scoliosis aged 13, I have low blood pressure which is normal for me and Osteoporosis runs in my family.

I'm in the process of changing Doctors and I'm praying that my new one actually tells me something other than 'growing pains'. I am not exaggerating when I say I would kill for a pair of crutches to help me on bad days lol.

Can anyone offer me any advice towards a diagnosis? I would be very very grateful.
Thanks for your time
Jane
modnote: merged into existing thread

[Stone]

Welcome to the forums.

It all sounds a bit familiar, I'm afraid! The usual first step is to get yourself referred to your nearest specialist hypermobility clinic for a formal diagnosis. The ideal outcome is that you're seen by a consultant rheumatologist who then oversees your care and manages referrals to whichever services and clinics may help; the reality is that it can be somewhat variable. It never hurts to go armed with a good understanding of the condition, which is something you'll certainly pick up by reading on here! Have a read through the Related Conditions section - our newbies are often surprised to find how many niggling or not-so-niggling problems they've experienced can be attributed to the one root cause.

Usually the main treatment is by medication and physio, with other specialties getting involved as and when. Personally I wouldn't rush to get crutches without a physio's oversight as you might make things worse! (though it's always positive to try and keep moving - as immobility can be a very slippery slope)

Good luck with getting the treatment you need.

Stone

[AnnaH]

FYI, there's a rheumatologist at Welwyn Queen Elizabeth II hospital who diagnoses HMS and seems to know a lot about it (we worked with Prof Graeme apparently) - he diagnosed me. Not sure I'm allowed to post his name. I saw him privately, being at my wits end without a diagnosis and in chronic pain, but he has an NHS clinic there too.