Diagnosing JHS, EDS IV and Marfans

[Stone]

thanks. will look into pilates and look for the osteoporosis thread.
i presume a normal pilates class at my gym would be sufficient?

I assume you will be referred to a physio in due course - do ask if they run a Pilates programme as they can be a bit more sensitive to not injuring us My local NHS hospital runs Pilates sessions in the physio department, they can only give you 6 weeks' worth but it's worth it to see if it will help for you before you spend any money

that's it - all my issues are attributable to HMS. I'm weirdly happy about it!

It's good, isn't it?

Stone

[goddess]

hi,can anyone tell me what the difference is between having hms,like i have,and eds,jhs and marfans? Someone on here mentioned that they wore a medic alert bracelet.Is that because they get dislocations etc with their illness? on what grounds would a person need to wear one?

[Stone]

Quick acronym alert:
EDS3 = Ehlers-Danlos Syndrome type III (now know as HEDS)
HMS = Hypermobility Syndrome
HEDS = Hypermobility-type Ehlers-Danlos Syndrome
(B)JHS = (Benign) Joint Hypermobility Syndrome

EDS3 and HEDS are the same thing. BJHS and HMS are the same thing. There have been suggestions that HMS and HEDS are the same thing, (agreed on by many sufferers and some of the most major specialists) but this isn't fully confirmed yet.

Instead of EDS3 you can have EDS1, EDS2, ... all are different types (see the wiki for more detail). The main reason EDS4 is mentioned in this thread is that it can be important to distinguish between 4 (the vascular type) and 3 (the hypermobility type) as the vascular type can cause sudden rupture of blood vessels etc, so you'd want to know in advance in case something bad happened.

Marfan's Syndrome is another disorder of connective tissue (it affects a protein called fibrillin-1 instead of collagen as with HEDS) which has a wider constellation of common symptoms, so it can be important to diagnose one rather than the others so they know what to fix. You might want to wear a medic-alert bracelet if you were likely to need medical attention and wanted to explain your history quickly - if you often faint, for example. There's a thread on them here

Hopefully that helps...?

Stone

[goddess]

hi stone,err,thanks..I have been given the diagnosis hms,thats all,they didnt say what type etc.How can i find out which type i have? would i have to speak again to the rheumatologist?

[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

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