Diagnosing JHS (HMS), EDS IV and Marfans

[Twinkling Star]

Dear Pulliptears,
I am sorry you have been treated so badly. Your case sounds very similar to my own and I am sure will be familiar to many of us here. I am 54 and only just managed to get a diagnosis. I went to see Professor Grahame who diagnosed me with Ehlers-Danlos Syndrome (Hypermobility Type) - (EDS III). Now you are here with all of us I am certain you will get a diagnosis real soon. You just need a referral to the right person! As far as crutches - go really careful. I was forced to used crutches because of having a fractured ankle at 13. I also had skeletal deformities which I was born with which were noticed by the Consultant following the removal of my plaster for the fracture. I then had 13 operations and spent most of my time using crutches, This caused damage to my hands, fingers, wrists, arms and shoulders. Probably my back too. It sounds like you are certainly Hypermobile and using crutches will put pressure on already hypermobile, unstable joints. Make sure you read as much as you can about Hypermobility Syndrome. Also read up about Ehlers-Danlos Syndrome. The Wikki is a good place to start and, of course, here on the forum and on the EDS support group too! Stay positive now! You are so close to getting real help now you have arrived here! Try to do things to distract yourself from the pain. I play little computer games - ones that don't involve too much hand movement/strain. I like the hidden object games - quite addictive and help distract me from the pain. You also need to be on the right medication and get help with your condition as soon as possible. You can email me anytime if you want to chat or send me a private im. Hugs to you.
Keep Smiling! or in my case Keep Twinkling!
Twinkling Star

[charley289]

Hi everyone, I'm new to the forum and need a little advice. After years of tests for initially unexplained back pain (didn't realise everything was connected) a physiotherapist finally diagnosed HMs in Spring of this year, I'll admit I had never heard of it and was initially skeptical as I thought how does being 'bendy' or my joints being able to extend more than others cause so much pain - she was very nice and explained everything. The more research I did the more it made sense from the back pain to my wrist seemingly just 'popping' to it taking two years for my ankle to heal after I tore some ligaments and finding that pain killers do nothing for me. She reccommmended blood tests for arthritis and a referrral to a chronic pain clinic. Luckily all my tests came back negative so I asked my GP about the pain clinic who said he couldn't refer me without me beingon pain killers and when I explained they don't work he said he would be relunctant to prescribe anything stronger without a diagnosis, he had forgotten about the diagnosis and when I politely reminded him he decided he should send me back to see an orthopeadic surgeon who I had seen about 3yrs earlier for my back and neck pain. The surgeon had performed a manipulation of my spine under a general as he said he thought there was residual scar tissue from a whiplash injury when I was a small child, even though I could not remember ever having such an injury and nor could my mom. Anyway I agreed, and it did initially relieve the pain although I suspect that he dislocated my shoulder during the procedure as I woke up with bad pain in it and it gets stiff and painful ever since and pops should I move it in a certain way. Anyway, I went to see the surgeon last Friday who after a very slapdash assessment including missing out two of the testing criteria he said I'm not hypermobile (?).

Which is very confusing as I and my physio think I am and the condition explains everything that I have been strugggling with. He now wants to ultra sound myshoulder with I think the view to operating and I don't know what to do, I'm sure it is HMS but he treated me as I was making it all up or had put thid idea in the physio's head even though I had never heard of it before! I'm starting Uni at the end of the month and they are in the middle of sorting out provision for me like a comfy chair to sit in during lectures etc. Now my surgeon says I don't have HMS - I could do with any advice please. Thank and sorry for the really long post

[Rosie]

Hi Charley

Unfortunately your position is one that happens to a lot of us. It is common for orthopaedic Drs to know very little about HMS/EDS3, or to decide that it doesn't exist. HMS is usually treated by rhuematologists and you are more likely to find a rhuemy who knows abouty HMS than an ortho doc.
Please be careful of surgery for joints that you think are affected by HMS as this can sometimes cause more problems. Orthopaedic Drs expect to be able to fix/cure things by surgery but this is not necerssarily the best option for us. Personally, I would never consider being operated on by someone who doesn't know about HMS.
Can you ask to be seen by a rhuemy? Ideally by one of the HMS specialists? for a diagnosis, hopefully followed by a treatment plan appropriate for you.

Rosie

[pulliptears]

My apologies for not returning to this thread and posting sooner, but I was waiting until I had some idea of what was happening.

As I said in my last post I was in the process of changing Doctors which I now have. After a long chat and an examination this morning he has agreed that my hypermobility is the cause of most of the cracking, but he doesn't think that its the main problem, more that it is masking something else. I've been having more problems with my left hand lately, and after he examined he was fairly certain I have Rheumatoid Arthritis. I've been for X-Rays and bloods this morning and now have to wait 2 weeks for results. In the interim he has prescribed me some new tablets (name escapes me at the moment!) which have taken the pain and swelling in my hand away almost instantaneously. At 36 I suppose I am quite young to have RA, but it is something that my Dad and Nan both suffered with from a reasonably early age as well.

Im most happy that for the first time in months I'm fairly pain free. It's gone from a roar to a whisper and Im very much looking forward to a good nights sleep lol!
I'll update when I know more

Thanks all
x

[hunny_as]

Hello everyone, i moved to Gateshead a few years ago and my GP really dose not know anything about HMS or my FM or any of the other things i have going on. I was just wondering if there is any one in my area that could suggest a GP that is more helpful, i am haven alfull problems with him. i have just had to request my own notes and my old ones from Basingstoke hospital to see were he his getting the information wrong. So unhappy that he just dose not get what we have to go thro on a daily let alone how we get when we haven bad ones.

Any help would be brill, thanks so much Amanda xx

[Stone]

Note to members: as per the site rules on naming medics, please send any responses to hunny_as directly by PM rather than naming them here. Thanks.

Stone

[chris21]

I couldn't find this info anywhere on here.... If it is please point me in the right direction.
My 8yr old grandaughter has bronchomalacia and hypermobile joints. Diagnosed when she was 18months old. At her recent check up at the hospital (with a new enthusiastic registrar) he was very interested in the family history etc. He has now sent a letter deciding he wants her to have a collagen test? Does anyone have any idea why/what hes hoping to achieve with this information and what does it involve?

[nonyanomemory]

Hi it sounds as though the Consultant is referring to a test which is used to either diagnose or rule out Ehlers Danlos Vascular Type. I believe that this may be done via a geneticist. If a mod comes along they may give a link to appropriate existing threads. Hypermobility type EDS is the one most discussed on this forum so there is not so much information on the vascular type. It may help you to check out the ehlers danlos uk forum. Googling that will bring up the link, I am so sorry because of brain fug, its name has just flown from my mind.

I hope some of the above helps.

kind regards
nonya

[gila]

Hi there

I feel it might just be "generally EDS" that he might be looking for and in his enthusiasm of seeing a family with a connective tissue disorder (which is considered to be quite a rare thing ) he might have gotten a wee bit 'overenthusiastic'-
in your intro post you said that you, mum of child and aunt of child had all been dxed with HMS (which some international connective tissue disorder specialists now officially consider to be the equivalent of EDShypermobility type- which the registrar might not be aware of), and therefore vascular EDS seems quite unlikely, as types mainly are the same in families (unless you have the bad luck of getting things from both sides of family or a spontaneous mutation)-

at your, aunt's and mum's dx they would/should also have asked about familial history which would/should have flagged up the possibility of vascular EDS...

so maybe the registrar wasnt aware/had forgotten that with EDShypermobility type it currently is only possible to confirm it by "collagen testing" in a v small minority of sufferers (in roughly 10%, in the other 90% the hypermob type has so far no definitive tests)-

so by all means have a look at the various EDS types on
http://www.ehlers-danlos.org/index.php? ... 4&Itemid=5
but I'd say dont start worrying too much about the possibility of vascular EDS yet-

there is also the possibility that you have some "cross over/overlap" of types (to have some cross over signs is quite common) which afaik means you can have some signs/symptoms of several types without having the 'full blown' probs of all those types-
for example some HMS/EDShypermob peops have "somewhat weaker" blood vessels than most HMS/EDShypermobs (like I sometimes get v painful bursting of small blood vessels in fingers and toes which afaik isnt a 'common to all' occurrence) but that doesnt mean that they necessarily have another type
but maybe nonya (hello !) can explain this better as she has an official crossover dx

but we on here can only 'guess' so maybe get in touch with registrar/his secretary and ask why he wanted collagen testing.
keeping fingers crossed that his request was due to a bit of 'overenthusiasm' or to 'better v v safe than sorry' thinking !
best of luck!
xxg
ps : afaik the tests for the various EDS types vary- there are gene tests which afaik are done by blood samples, one type is done by urine analysis and there are skin biopsies in which a small piece of skin usually at the top of the arm is cut out and 'examined' (this 'examination' is quite a complicated and involved thing and it usually takes quite some time before you get results) - afaik skin biopsies can confirm the classic and vascular type and in the v small 10%minority the hypermob type - or can 'just' show that "there is something wrong/odd" but not confirm type

[chris21]

Thanks Nonya n Gila for your replies. I will look at ehlers danlos. I'm sure it isn't worth worrying about as between us we all have different 'things/bits' going wrong with us We're just not sure we want to put an 8yr old through another test if it's not necessary, who knows in 6 months time (when her next appt is) she may see another newby n they may forget what was suggested!!

[beneathsun]

So I was diagnosed this year at Victoria General Hosppital with Ehlers Danlos hypermobility at the medical genetics department. So a geneticist diagnosed me. I'm Canadain of centuries old dipossessed Scotish ancestry and other European ethnicity.

I assume that an EDS clinic would entail some supportive treatment as well from a phsyiotherapist, but they didn't know who to recommened for physiotherapy or perhaps it was policy not to make specific recommendaations. So I wouldn't say that the genetics dept I dealt with was an EDS clinic.

I have seen a kinesiologist but he is not familiar with EDS. And I haven't pursued the matter. I was told that EDS was a common diagnosis at the genetics department here - one of the most common. So it is very frustrating that I cannot find a physiotherapist for my EDS symptoms.

My dentist was one of the first to recognize my EDS issues. My optomitrist was clueless as well as my GP, of course. An orthopaedic surgeon has described me as having "congenital laxity" and observed other EDS symptoms and intimated that something was going on, but he never mouthed the words Ehlers Danlos or hypermobility syndrome - unfortunate for me and his other patients. I assume that he knows of EDS but has decided not diagnose for it.

My experience suggests that not widely recongnizing EDS is a political issue where a lot of money (drug companies and possible privatizaion of health care) and power is at stake which is incredibly backwards and cruel. Of course, in BC, one of the first private surgery clinics was one for hip and knee replacement, Making money out of human misery is utter cruelty.

I was told by the geneticist and the genetics counsellor that EDS was one of the most common issues that they see there. It makes sense to me that there would be a high percentage of the population with a connective tissue variation since chronic pain is one of the most common ailments in Canada. It is more a matter of people getting their heads around genetics - especially that when men age their sperm mutates. For decades it has been common knowledge that women's eggs will mutate as they age beyond their 40s and thereby increasing the risk of Down's Syndome, but for men there is no such common knowledge even though basic genetics books like "Genetics for Dummies" tells you that Marfan is a syndrome known to be cause by genetic mutations due to old men spreading their seed. We hear news of Rod Stewart, Larry King or Tony Randall having kids as elderly men but never the warning - "Don't do this at home cause it may lead to kids in chronic pain or vascular problems." When I went to have my heart ultrasound, the other person waiting was a young man with Down's Syndrome.

I'm very thankful for the diagnosis. It has greatly improved my life since I have been able to drastically reduce the amount of pain in my life (ie, make adjustments at work and using memory foam at home).

I guess that's enough for now. My background is in teaching and labouring (in pain).

Half facetiously,
beneathsun

[Baiba]

Hello
Has any of you heard about possibility to diagnose HMS with Biochemical tests + genetic tests?
I read in Russian that it's done very rearly because usually diagnosis is obvious after seeing patient.
I know that most of you will say that it's not possible because that's what our doctors say and that's what I believed after visiting good docotors here, in UK. But maybe some of you know something?
Thank you.

[Rosie]

Hi Baiba

There is no genetic test for HMS because they have not yet identified the gene(s) responsible for HMS. Until they do so it is impossible to test for. The specialists in the various countries seem to keep in touch very well so I am sure that if a test did exist, we would know about it.
What I think has happened is that the term 'HMS' has probably not been differentiated from EDS, as several types of EDS can be identified by a gentic test, or by a skin biopsy.
Have a read through this thread and you will find a link to the EDS site which explains it all in more detail.

Rosie

[Gecko]

Hi guys. I have read some of the threads about diagnosis and I know that seeing a rheumatologist seems to be the best way to go about getting diagnosed (or not). I'm also vaguely aware of the service for complex suspected EDS cases. I apologise for posting something that may be answered elsewhere, but to be honest I'm starting to get a bit confused as a result of information overload! Here's my situation:

- I think I am somewhere on the hypermobility syndrome/mild EDS spectrum based on a variety of symptoms including joint pain, thin skin (not terribly so, but thinner than average - have to buy elastic stuff in bigger sizes than I am, wound healing problems, etc), unexplained gastro bleeding, bleeding gums since forever and confirmed hypermobility in multiple joints (and the list goes on).

- So, I think my connective tissue is not quite right and would like an expert opinion on this. I was originally offered a referral to an orthopedic surgeon but figured out that that probably wasn't correct, so I now have in my possession a Choose & Book referral. My GP listed some local hospitals, but apparently I can book anywhere in the country!

- I live in Birmingham but am willing to travel to see someone who knows their stuff. I think I remember reading in an article on this site that the West Mids is a medical care 'blackspot' for these conditions. Any advice on how I should proceed would be VERY WELCOME, as I don't want to waste my Choose & Book and am not sure whether I should just try a local 'rheumy' first and see how it goes, or seek someone further afield if there are recommendations. Or should I try to get into one of the new complex EDS clinics??

Sorry for long post!
modnote: merged with existing diagnosis thread

[Stone]

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