Diagnosing JHS (HMS), EDS IV and Marfans

[Nik]

thanks Louloutinks & Rosie

Leading on from your suggestions I found some info, here is the link if others need to know more:

http://www.marfan.org/marfan/4470/Diagnostic-Criteria---Scoring-of-Systemic-Features#Reduced%20Upper%20to%20Lower

[paul318]

I have just asked my daughter if she can do the things in the beighton scale and she can. In fact sh can do more of them than I can. She is 25 years old. Apart from knees that click when she gets up from the floor, she hasn't had any problems. It does seem to add weight to me having HMS, although i was hoping I hadn't passed it on to my children . My real question is it worth her seeking a diagnosis if it isn't causing her any problems? She has had 2 children without any problems but am I right in think doctors should be aware of the possibility of a dislocation if she has anymore?

I am not overly concerned at the moment and fortunately she is so laid back about things it didn't worry her when I said she might have inherited it from me. But she did ask if I thought it was worth getting diagnosed if it isn't causing any problems. I just thought I'd ask what other people think.

[Lou661]

It is possible that she's "just" hypermobile and may never develop HMS. I think that if she's aware of your condition, takes care of her body and gets and joint issues seen to as soon as they arise that pushing for a diagnosis might not be helpful at this point. Also if there is none of the associated pain I think she would struggle to get a diagnosis anyway.

That's just my thoughts on what I've learned so far,only learned of HMS 3 months ago when my GP toldme I was hypermobile, so I could be way off the mark. I'm sure some of the more experienced members will be able to give a more insightful answer.

Louise

[paul318]

That is what I thought too Lou. She isn't getting any symptoms apart from her knees popping. Although I did wonder if she would be given advice on how to try and limit any possible damage later on in life if she was diagnosed. They might even be able to see if there are any potential problems that she should be aware of.

I may not have some of the problems I have now, had I continued to have had my shoes built up to counteract my very loose ankles. But I stopped having that done when i was about 12. My parents only noticed the problem because my ankles would give way on a fairly regular basis. I hadn't even realise my daughter is hypermobile until yesterday.

[Sugar-Sweet]

Hiya, I've been on the forum for a bit and posted a few times but now i am a little confused. I was diagnosed with HMS few weeks back, i knew i had it anyways, doctors are just a bit slower than us lot on here lol. So i am a bit confused, He just said i had BJHMS. If you have that then would you scar strangly and have stretch in your skin and stomach problems or is that the EDS part of it and therefor do i need that bit diagnosed? The doctor did say, its not EDS but from reading then i'm not sure if thats right or not as i have some of the thingson the list.
Next question - My daughter has been told she is hypermobile, i dont know if she has HMS or is just hypermobile, she seems very bendy though, much more than me but she is only 3 so it might tighten up. She dislocates her knee on purpose and I was told she needs insoles, which are being sent out to me. Apparently she doesn't need physio as she is too young and wouldnt really do the exercises. Is this all the right thing or can i do anything?

[Rosie]

Hi sugar-sweet

The specialist thinking these days is that EDS-H = HMS = EDS3 = BJHS etc etc. However, many medics are behind on this and still give out 'old fashioned' informatiom like EDS has skin involvement, HMS doesn't. HMS/EDS-H affects us all differently so some of us have skin involvement and some don't. The hypermobility type of EDS does not typically have very stretchy skin, this is usually associated with other types (although it is not always clear cut). Like wise some of us have digvestive tract problems, and some don't. If it is casuing you problems then it is worth getting it investigated, it really is up to you. I coped with IBS for over twenty years with a combination of relaxation techniques (for stress induced type) and lifestyle until about 3 years ago when hubby was seriously ill, at which point the doc put me on anti-spasmodics which have helped. It is not really surprising that we can have problesm with body parts other than joints. HMS/EDS-H is a condition that affects the collagen in our bodies, and many body tissues contain collagen.

Rosie

[PhillMc]

This has made very interesting reading. My rheumy gave me the diagnosis of BJHS however i have a brighton score of 7/9 pain in every joint except my left knee, i bruise very easily, have translusant skin over my legs chest and arms, my veins collapse whenever someone try's to get blood from me, i have IBS and that's just for starters. My OT was very shocked when i went to see her that the rheumy had said BJHS and sent me on my way given the amount of pain i suffer and quite how lax a few of my joints are, My physio was also surprised so i started reading (found this site) and decided that i just has JHS/HMS rather than BJHS and now with reading it would seem that there all the same thing. I wonder if i should ask to be referred back to the rheumy? Although i don't know what good that will do.

[mami2four]

After a manic year of hospital appts getting Lili-Mair sorted with all the things she needs, life is finally starting to settle down a little so I figured as I was at the dr's surgery today for something else anyways I would finally start the process of getting myself diagnosed and asked for a referal to the rheumy.

I gave the GP all my syptoms, we chatted about Lili's HEDS/HMS diagnosis and he looked at my thumbs(nothing else mind!) and announced that because my thumbs didn't hyperextend it wouldn't be HEDS/HMS. I tried to explain that it doesn't always affect every joint and laxity can lessen as you get older but he still insisted that wasn't what it would be but is sending me for various blood tests before he does anything else.

Am I right that laxity can decrease as you get older? Or did I make that bit of info up in my head? I was definitely more flexible until about 4 years ago after I had my last child and have gradually become less flexible but now with much increased pain especially in my hands. Anyways, I have a horrible feeling that getting an official diagnosis is going to be more hassle than it's worth but over the last year as I've been doing more research for Lili's sake all my childhood complaints(and adult ones) seem to all have been falling into the HEDS/HMS category.

Katie

[Lonnygirl]

I haven't had a diagnosis as of yet but I got my letter from the rheumy today who said that on clinical examination I showed signs of benign hypermobility and associate pain!

What does that mean exactly?? is it a diagnosis or is it that I am just a bit bendy!!!!

[star gazer]

Hi Katie, when I had my assessment with Prof Grahame one of the things he put down was "historicaly" meaning I could do it when I was younger but not now as my joints had degenerated it was the bend to put hand on floor< I could do it but now have sponylosis so that part doesn't move so well however thorasic spine still hypermobile. There is an age on the scale for the historic bit but can't remember just now what it is (I am 46). I did have blood tests before I saw Prof G to check for rheumatiod factor That came back normal but for a long time I have had elevated inflamatory markers. The reason I was diagnosed was because my neuro referred me after which the prof thought it was genetic so I took my son and my daughter is waiting. The Prof wrote in the letter for my son family inheritance down maternal line from paternal gt grandfather! Other members of my family have young children and now we know that we have a genetic blip they can be on the lookout. so yes in answer to your question you can have a beighton score that includes a historic joint mine is 6/9 historicaly 7/9.
don't know if that helps at all.
best wishes
star gazer

[shirleytx7]

I have my follow up appointment tomorrow with my rheumatologist. I hope she will be able to officially diagnose me with hypermobility syndrome. I know Hypermobility syndrome doesn't seem to be as recognized here in the USA as it does in Britain and I just want an official diagnosis so I can move on with a plan on how to protect my joints from future damage where possible and get the help I need. Health insurance over here is very different than in the UK. (I was born in London and lived in the south of England until I moved here with my husband in 1992.) I have prepared a list of all my medical issues and dates along with a list of my doctors I have seen. I am hoping that with this along with my medical notes that detail all the tests I have had will be enough evidence to get diagnosed. I have felt for years like I was losing my mind in constant pain and one problem after the other. I am tired of being in pain and need help to be able to move forward. Does anyone have any advice on how else to prepare for my appointment? Also does anyone have any recommendations for doctors/therapists in the Dallas, TX area? I could not find any in search.

[Blaadyblah]

The rules of these boards forbid naming medical professionals unless they are Advisors, but members can contact you using the pm button if they have a suggestion and need to name them.

We have a few other members in Texas though so you could be in luck, otherwise I'll ask a friend there when I speak to her next. Treatment in the first instance is usually physiotherapy, so it may help to have a look at how you access that with your coverage.

[shirleytx7]

I have been to four different physical therapists over the past 4 years and they have not been very helpful and I usually end up worse than when I started. I am hoping once diagnosed I can find a physical therapist with experience treating hypermobility.

[Rosie]

Hi Shirley

If you use the search tool at the top of the page, and search for 'Texas' you will find other members who live in your area.

Rosie

[shirleytx7]

My appointment went well My rheumatologist and I was officially diagnosed with Hypermobility Syndrome. 4 and a half years of pain and being passed from one doctor to another thank goodness for my wonderful new doctor. She is referring me to a physiotherapist who will work on muscle strengthening based on my diagnosis.