Diagnosing JHS (HMS), EDS IV and Marfans

[Englishgremlin1]

Could be worth contacting the RNOH at Stanmore, they are used to hypermobility and have a very good team.

[kirstyann]

Mod edit - Dr name removed - please see board rules - Site Admin

im 22 and was diagnosed with HEDS when i was 14. i have one som who was born july 2010 after a terrible miscarriage previously> i have now found out that i am pregnant again! prof bird took care of me last time i was pregnant and saw me twice through the pregnancy but unfortunately he retired around the time my son was born.

when i last saw him he said that i would be refferred to dr *** at MRI and both me and my son would be seen. this never happened and after chasing it and chasing it i have now been told the referral was never made and she has now closed her list and i could not even get a referral there if i tried.

I was also under a gynae consultant during my last pregnancy who was lovely and read up on everything i gave her as well as doing her own research into EDS. however i have moved quite a long distance and changed gp etc. my new gp has agreed to try and refer me to a gynae consultant again which is a bonus, i just hope they are as nice and clued up as the last 1.

i have moved to sheffield and really need some help as to how to go about seeing another clued up consultant/department/EDS specialist as i am really worried about the pregnancy. i would feel so much more comfortable tot even have some sort of converse with a doctor who knows what they are talking about.

Also how would i go about finding a doctor to look at my son, as yet i have no worries, but they may be able to discover something early??

sorry for such a long post, but im really quite worried and its all playing on my mind, i really hope someone here can help me

xx kirsty xx

[Retro]

Hi Kirsty,

Welcome to the Forum

There are open threads on the forum regarding pregnancy, please try the search facility. There are more personal pregnancy related threads in the Personal & Sensitive section which you can ask for access to (read the announcement on the front page to find out how and when).

It would be a good idea to discuss any concerns you have about you or your son with your GP. If necessary s/he may refer you to a Rheumatologist. I wouldn't be overly concerned about your son if he is not showing any signs of problems. Is he hypermobile? If not, then there's definitely nothing to worry about, if he is, there still might be nothing to worry about.

Lindsey

[barkingmad]

not sure whether this is going to be of any good for you as technically there doesnt appear to be any confusion over your diagnosis but there are specialists at the complex EDS service in Sheffield. If you ring them they may be able to give you the name of a consultant who would be able to help, however they may not be able to do anything.

I should reassure you and say not everyone has problems pregnancy in HMS/EDS3..in fact it is normally ok, but it can vary between each person and even with each pregnancy. I had 3 children, the first was absolutely awful and caused a lot of physical damage during labour and after, the second and third were no way as bad at all.. so try not to worry too much.

[kirstyann]

thanks both of you for your replies. i didnt know there was a centre in sheffield, am going to see my gp this week so i am going to see if there is any way he can refer me before i get on the phone myself, if not then this is exactly what i will do!

my first pregnancy and delivery wasnt too bad, just millions of dislocations and the worry of anaestetic not working if anything went wrong.

[anaqi]

Hi!

I was wondering what kind of health professional can make a diagnosis of Hypermobility Syndrome?

I asked my GP about it but she said she didn't have a clue and told me to asky my rheumatologist. The Rheumy said I didn't because I only had a Beighton score of 1 (hands flat on the floor) but as I've been having hip pain he would refer me to a musculoskeletal physio for assessment and treatment. When I asked him about the Brighton critera he said 'I've already said I'll send you to the physio so you can have a second opinion.' He also said that a certain amount of hypermobility was common in people with muscoluskeletal disorders (his initial diagnosis of me is Fibromyalgia) and he didn't really seemed bothered about changing the diagnosis because there is nothing you can do about it and the treatment is the same anyway.

So I guess my question is can a physiotherapist diagnose Hypermobility Syndrome?

Thanks!

Clair

[AnnaH]

A physio could probably make a diagnosis, but would anyone take any notice of it? The answer is probably no. Do you really think you have a Beignton score of 1 or do you think your rheumatologist is wrong? If so, ask for a second opinion. Depending on where you are, there will be doctors you can see who can diagnose you, if indeed you do have HMS or EDS, but it might take some research to find out who they are.

I was diagnosed "accidentally". I went to see a rheumatologist specialising in foot problem and I had problem feet. I had no idea I had HMS or EDS.

[anaqi]

Hi!

I have a Beighton score of 1 because I can put my hands flat on the floor without bending my knees. A GP recently told me I have hyperextensible elbows but the rheumy said they are not hypermobile even though I can bend my left elbow slightly the wrong way.

I believe I fit the Brighton criteria because I have 1 major and at least 2 minor criteria.

Major: I've had pain in my both ankles, knees, hips, right elbow and right shoulder for 22 years.
Minor: A Beighton score of 1 (hands on floor)
Soft tissue rheumatism, bursitis in hip, bursitis in shoulder, epicondylitis in elbow and tendonitis in ankle all confirmed, knees not investigated.

I also have a greater than normal range of movement in my jaw and shoulders (which are not covered by the Beighton score) and a lot of other symptoms common to hympermobility syndrome. When I mentioned the Brighton critera to the rheumy he just said speak to the physio.

Clair

[Rosie]

Hi kirstyann

Please have a read through this thread about the Sheffield clinic. You will see that your GP cannot refer you there. I think that Donna's suggestion that they may be able to suggest someone with EDS specialist knowledge is a good one, but their clinic is for peeps who do not have a diagnosis yet, and whose symptoms are more complex.

Rosie

[AnnaH]

Hi Clair,
from what you're saying, it might be worth getting a second opinion.

[andreak]

My daughter is 17 and has recently been diagnosed with Ehlers Danlos Hypermobility Type. She also has Scheuremanns disease, Complex Regional Pain Syndrome and POTS
Its our understanding that the Ehlers Danlos is likely to be a major factor in her other conditions but although this was mentioned very early on no-one ever followed it up until the POTS meant she was unable to stand or sit without fainting
She is about to transfer from Childrens to Adult Services but we havent a clue where to go. Everyone we seem to look at specialises in just one illness and doesnt look at the whole picture and the links between it all
Currently she is having severe problems with pain in her back, yet our spinal consultant is adament the scheuremanns is not the problem and the swelling and lesions we see with it are a dermatalogical problem and nothing to do with thin stretchy skin of EDS or the reactions of her CRPS to injuries
Can anyone recommend somewhere who can look at the bigger picture and come up with a plan of action as regards pain management and functionality. We have been through GOSH PMP with Sue Maillard who got her walking again and did have a place at Bath Pain Management but had to give that up as her dad was off work long term sick and we simply couldnt afford for me to take time off work unpaid to accompany her and live in Bath for three weeks. As a result Bath have now taken her off their lists
Most of the time she exercises within her limitations but from time to time we have periods where she is unable to do anything, take yesterday when her back and the POTS were so bad she couldnt even stand to get to the toilet.
Ideally we could do with a specialist in the north of England if anyone has any ideas. We are seeing the GP soon to do the referral as our Childrens Hospital dont want to discuss passing over pain management just yet and have advised we approach from the spinal side in this instance as our spianl consultant was adament scheuremanns doesnt cause the pain my daughter has
Sorry if this all sounds a little confusing and I know its unlikely we can find a specialist with knowledge of everything but I thought Id give it a go
Thanks
Andrea

[tambers82]

Hi

Salford have some good spinal consultations. Manchester Royal seems ok for rheumatology & Physio is good there too. Hope this helps.

[nemonie]

Hiya,

Welcome to the forums. How far North are we talking? There is a doc base in Queen Elizabeth Hospital in Gateshead, a rheumatologist I think. Ring up the HMSA phone helpline for details - the number is on the main HMSA website.
Unfortunately the hypermobility unit at Leeds was disbanded after Prof Bird retired though you can sometimes get lucky with referrals there and get to see someone who knows what they are talking about.

The Royal National Orthopaedic Hospital (RNOH) at Stanmore (down in Middlesex/London) has a specialist inpatient rehab course which is ace. The patient stays at the hospital Monday to Friday as the ward is closed at weekends and the rehab stay will either be two or three weeks. Your GP can refer to Stanmore.

[andreak]

Thanks everyone
We went and saw the GP and explained the situation to her
With regard to the Scheurmanns our GP thinks we would be better seeing a neurologist to look at the spinal problems rather than an Ortho who doesnt understand the neurological implications of the condition .... not sure if this is the right way to go but the GP is going to speak to a few people and get back to us. CRPS causes adverse reactions to injuries and when the spine flares (as it does almost daily) it is accompanied by swelling, bruising and lesions ... our current spinal consultants diagnosis was dermatitis was causing this....
As far as the EDS / HMS / CRPS / POTS we are having a referral made to see Professor Grahame at UCHL. After looking at the reviews on here it seems he has the most knowledge on how all of these conditions fit together and how best to look at a way forward as far as managing the conditions goes. At the moment we see Consultants in Isolation and that sometimes causes problems with conflicting advice and medication
If anyone with similar problems has seen Professor Grahame would you recommed him as the right way to go....
Thanks
Andrea

[Rosie]

Andrea - may be worth looking through the Prof Grahame thread to see if anyone has similar symptoms.
We often have to see separate consultants for our specific conditions, no one specialises in all our issues as it would be too much. The trick seems to be in finding specialists in one condition (like gastro) who have a clear understanding of the role EDS-H/HMS can have in their own field. SOmetimes the EDS/HMS experts can suggest dpecialists in your area, or you may be abole to ask them to look aorund for someone, and then to refer you on, or at least to write a letter explaining the situation and offering info if needed. It is usual for rhuematologists to act as our central co-ordinator like this, as they are the HMS/EDS experts, but many of us then have our GP as the main care provider, so they can act as a central hub in our care. This does depend though on finding the correct specialists.

Rosie