Diagnosing JHS (HMS), EDS IV and Marfans

[Yavimy12]

I was diagnosed at 15 after years of "growing pains" as having abnormal collagen and familial joint laxity at the orthopaedic hospital in Oswestry (due to living in North Wales) I have a cousin with EDS finally diagnosed this year at 36. A great aunt that had it and a number of other cousins with the same sort of problems none with diagnosises. After a number of operations to fix my knees I still have constant pain. I think I have a high beighton score and have a number of symptons including - numerous dislocations, chronic pain, constant fatigue, clumsiness, difficulty walking, popping/clicking joints, stomach problems, hypersensitivity, forgetfulness etc etc . The last gp wasn't very helpful and gave me medication for pain etc but didn't know what to do. I have been to a pain clinic but the doctor was unsympathetic and basically said I wasn't over 60 so I would just have to live with it -obviously being told that at 18 put me of. I have no treatment plan etc. I have a new gp now although hes sympathetic he doesn't know what to do. I am now nearly 30 and would really just like some kind of help as I also have a 3 year old son who is showing some symptons. Any ideas?? as I said I live in North Wales so I know I would have to travel but am sure my new doctor would give a referral if needed.

[Rocks]

SOZ LONG POST - I RAMBLE A LOT

Hey Everyone,

Joined this forum way back in March explaining that i only joined as my mother and sister where diagnosed with Hypermobility and accompanying problems and to show my mum support - she is icklekitty. It had been mentioned at the time that i should start testing and such as was showing signs (through two pregnancys) that i may also carry the hypermobile gene.

Well i was put on the waiting list for the reumy and physio - hadn't heard anything for four months so went back to the doctor to find out what was going on. He read me out a bunch of letters from both these departments claiming the other should check me over. Reumy said because my mother and sister had HMS they didn't need to see me and said i should go straight into physio. I went to one appointment with physio and she said i needed xrays to see how bad the damage was so she knew what she could and couldn't do with me - was unable to finish exam as she hurt me. I then find physio wrote back saying that i needed xrays and reumy relied saying just to treat me if the doctor thought i had it then i did! Obviously i was very angry with this situation, and sort of imploded and broke down in tears - I've been in agony for as long as i can remember and had started self medicating. I went to the doctor every month practically begging for some pain relief but he refused and kept refusing and said he couldnt give me any untill i was diagnosed. I got so upset and frustrated that my mum stepped in and came to the doctors with me last month, and she let him have it. To say this simply i left that appointment with a very helpfull amount of painrelief and something to help me sleep through the pain at night, two days later i received a letter from him telling me the date of my reumy appointment.

So went to the appointment two days ago and this is what she told me, I have hypermobile joints from the hips upwards, and arthritis will start to set in soon. She told me i have see through skin that is easily damaged and extremely slow to heal - which is why i have so many scars including simple ones from blood being taken. She told me i have high arch feet which is one reason why the hurt so bad. She then told me my knees, legs, calfs and feet are so badly painfull because i have very tight acheilles heals which are causing the strain and pain i feel constantly in the lower half of my body. She then told me that if this is not treated properlly and quickly i will develop flat feet and will have a whole host of other problems too.

She said something about physio for my ancles, but other than that everything else is a bit of a blur.
I dont know what happens now, what do i do, who do i go to, what about benifit and such? Do i have this reynaulds thing too with my hands and feet - how do they diagnose that/was she supposed too?

Im so confused, does anyone else have what i have?

She told me a have benign hypermobility from my hips upwards that will then be called Ehlos-Danlos-Syndrome from next year.
I'm 22 years old, im in pain all the time and even the painkillers that arent prescribed dont help. I have two children 2 years & 1 year and cant play with them as it hurts so much, im overweight and severly deppressed aswell as a number of other things - i dont know what happens now

[Gecko]

Hello, and welcome to the forums

Orthopaedic specialists are not the way to go for initial diagnosis - not only is it not really their area, but they tend to see everything as being cured by surgical intervention which can be very unwise for us! As you've figured out the right place is rheumatology. There's a list of the specialist hypermobility clinics on the HMSA website here so you can pick the one closest to you. Note that some of them only accept referrals from a consultant so you would need to see a local rheumatologist first.

Hopefully it's all set up on Choose and Book so you can just pick the clinic you would like and off you go. If not you can get your GP to do a 'manual' referral - it takes slightly longer, and they may protest a bit (they have to write them a letter) but it works just as well.

Good luck with it!

Stone

Thank you! I thought I was onto a winner here but I've hit a snag and would be extremely grateful for any help. Here's what happened:

- I called the Choose and Book line and asked to be referred to the London specialist hypermobility clinic, but was told that I couldn't go there unless it was one of the choices listed on my letter (which it wasn't, since my GP had listed 3 local hospitals). The lady I spoke to said I could get the choices changed by my GP surgery and then call back.

- So I called the surgery and was told this wouldn't work using Choose & Book because a London postcode had to be used (I am in Birmingham). BUT I could, I was told, have a referral straight to the clinic. Great!

- That didn't work either. I got a call back later to say that the GP had said it wasn't possible without permission from the PCT! This is apparently because it is outside of the area. I mentioned that I was sure Choose & Book entailed a legal right to visit any hospital in England, but just had the same thing repeated back at me.

So I'm pretty confused now. Is there anyone else out there who has managed to get a referral to the London clinic from outside of the London area?? This right to choose doesn't seem to mean much if what the GP says is true! The receptionist who was relaying this information implied that it would work if I could supply a London address. I CAN do that as my cousin lives there, but I of course do not. Is that something others have tried, though?

I will go to a B'ham rheumatologist of unknown special interests if that's my only option, but would rather go straight to the specialist clinic if at all possible. I could also go to Bath if possible, I just had my sights on London due to ease of transport.

Thanks in advance for any thoughts on this situation...

[jazzyteach65]

I apologize for the sudden questioning and inquiry, but I am completely new to HMS and need help understaning the Beighton sore. On some sites, there are the four basic questions worth a total of nine points, and on others there is a test of more than nine. Which one is correct? I scored a 4/9 on the Beighton-I can touch my palms to the ground while standing and barely bending the knees almost completely erect, I can bend both thumbs down to where the touch the wrists and both of my little fingers at the last metaparel/unit slightly past 90 degrees. Would this give me 4 of 9?

[Purplesheep]

The Beighton Score is always out of 9 - you score one point for each elbow / thumb / little finger / knee that bends "backwards", as well as one point for being able to put your hands flat on the floor. So from what you posted, you would score at least five. Each joint, left and right, counts as one point, because most people are bendier in one side of their body than in the other (for example, my left side tends to be much more flexible than my right).
Broken down, the total system looks like this:

1. Left elbow bends backwards
2. Right elbow bends backwards
3. Left knee bends backwards
4. Right knee bends backwards
5. Left thumb bends to the wrist
6. Right thumb bends to the wrist
7. Left little finger bends back >90°
8. Right little finger bends back >90°
9. Hands touch the floor while bending forwards with knees straight

There is an explanation with images on the main HMSA website too: http://www.hypermobility.org/beighton.php .

Also, it's important to be aware that the Beighton score only measures general hypermobility, but HMS (Hypermobility Syndrome) is diagnosed using the Brighton criteria, which includes the Beighton score, but also other common features of HMS. The full criteria are explained here: http://www.hypermobility.org/diagnosis.php. I hope this clears up some of the confusion! It's a lot to take in when you first find out about it. I'm sure people will be happy to help explain more if you have any more questions

[jazzyteach65]

Thanks SO much!!! It doesn't include my frequent urination problems (they call this hypermobile urinary?) and ulnar problems

[Rosie]

Hi jazzyteach65

Please have a look around the site and you will find discussions on most things you can think of! The search tool is very good for finding existing threads, and we ask you to join in with threads rather than start new ones. If you search on 'ulnar' you will find threads about ulnar nerve subluxations, trapped ulnar nerve, ulnar rotation and surgery among others. If you can't find what you are loking for, feel free to contact me or any of the mods who will try to help.

Rosie

[Rosie]

Hi all

Gecko, the information heresays that you can choose any hospital in England that is funded by the NHS, and this page says this choice is a legal right. In reality, many people find that their local health trust will not fund referrals to outside their area, it is all to do with the way it is financed mand it does varty from area to area. If you are refused a referal to the clinic you want, you can appeal to PALS.

Hope this helps

Rosie

[jazzyteach65]

I live in the US,I'll have to check

[Rosie]

um............that reply was for Gecko, I really don't know what happens in the US as our NHS (National Health Service) is totally different.

Rosie

[Stone]

- So I called the surgery and was told this wouldn't work using Choose & Book because a London postcode had to be used (I am in Birmingham). BUT I could, I was told, have a referral straight to the clinic. Great!

- That didn't work either. I got a call back later to say that the GP had said it wasn't possible without permission from the PCT! This is apparently because it is outside of the area. I mentioned that I was sure Choose & Book entailed a legal right to visit any hospital in England, but just had the same thing repeated back at me.

So I'm pretty confused now. Is there anyone else out there who has managed to get a referral to the London clinic from outside of the London area??

I was in almost the same situation - my GP couldn't find the clinic on Choose & Book so had to do a manual referral.

You shouldn't have to use a London postcode (knowing them they'd probably end up whinging about fraud!); you do have the right to be seen anywhere so if you kick and scream a bit they should relent. The PCTs try and manage their budget by doing blanket refusal which is obviously rubbish You want to be seen by the specialist experts and you want to go to their clinic, it shouldn't be this hard! Maybe getting a referral to the service at Manchester Royal Infirmary would be more palatable to them?

If they won't give in with a bit more pressure, like Rosie said your first port of call should be PALS. Once they get involved it seems to be less trouble to give you what you want rather than arguing with them!

Stone

[jazzyteach65]

I just got back from a good rheumatologist-FINALLY! He said that tested me, checked out my history ect and concluded that I definately have a connective tissue disease, and that all the signs point to EDS. However, he says I need to go to a geneticist to find out how severe it is and to see how bad the collagen levels are and that there are no specialists where I live

[Twinkling Star]

Wow you are lucky to find such a person! Please im me and let me know where you live. I had to pay to go privately to see someone. I ought to have tests to rule out Marfan's syndrome too so am looking to go to a geneticist also. Hope you get everything sorted soon. Let us know how you get on. I was diagnosed with EDS but am still waiting for orthotics.......been over 4 months now I think. Sick of waiting. Think I should make a complaint......already been waiting over 36 years .......seems cruel to have to wait so long now I even have a diagnosis. Oh anyone know of someone I could see to get orthotics sorted. I urgently need my neck collar replaced (has to be made specifically for me because of my lop sided body and urgently need a back support/brace for help with lower back pain when travelling. PLEASEE don't tell my my muscles need strengthening .......I been doing exercises for over 40 years and I just neeed support when I am upright as everything starts "sinking" down causing pressure on the brain stem and on the dura area. Thank you all. Hope you are all coping. Big Hugs. Keep smiling or in my case Keep Twinking! Bye for now. Twinkling Star.

[nemonie]

However, he says I need to go to a geneticist to find out how severe it is and to see how bad the collagen levels are

Okay..........Never heard of this kind of testing! A geneticist can test to see what type of EDS you have (which is a disorder not a disease!), although EDS-H does not have a genetic test apart from the Tenascin X subset. This is important in determining or ruling out vascular EDS and Marfans.

EDS is also not due to low or high levels of collagen but due to faulty collagen. You know how severe your EDS is by how severe your symptoms are, not levels of collagen.

Your rheumatologist would serve you better by focussing on treatments rather than tests.

[Twinkling Star]

I disagree with the previous post.........sorry. I believe we all should try to have EDS Vascular ruled out and also have Marfan's ruled out. To me it is like saying well let's not bother to find out exactly what is wrong ....just get on and treat the symptoms. If you don't know which type of Connective Tissue Disorder you have how do you know which tests you should regularly have. Also how do you know which tests your family should have. I apreciate what your saying. My goal is to find out exactly what is wrong in my family so that we can be well informed. I believe we have a RIGHT to have the other things ruled out if we want. Most people dont have to put up with not knowing whether their problems are due to Diabetes or whether they are due to Thyroid problem, etc. Why should we be left in doubt!! If you don't have it down on your records which Connective Tissue Disorder you have then the Doctor's don't know exactly what problems they should be routinely checking you for!! I think the previous post just was not quite precise with the wording and am pretty certain the Rheumatologist is just wanting to know which type of Connective Tissue Disorder the patient is dealing with. EDS Vascular is obviously more serious than other types of EDS. Marfan's has some other risks that should be regularly checked for. So I think his Doctor/Consultant meant what my argument is - WHY SHOULD WE BE ACCEPTING TREATMENT FOR SOMETHING WHEN WE DON'T EVEN KNOW EXACTLY WHAT WE HAVE WRONG WITH US. We could be being subjected to risks that are just too risky!! Let's get the tests done. Exclude as much as we can so we can get on with our life. It is routine in most countries and very well documented - the final stages of diagnosis is genetic testing to "rule out" other connective tiissue disorders and the relevant tests to check all is ok - such as echocardiogram, etc. COME ON UK - CATCH UP WITH THE WORLD!!! May as well be talking to aliens as seeing any NHS doctors I have ever met in UK.