Diagnosing JHS (HMS), EDS IV and Marfans

[Alison C]

you can use names - I was just saving time!!

please let me know how you get on

Rachel is the head physio in rheumatology - fab!

can you get to the pizza hut meeting?

Alison

[sarahh]

Hi Lizzielizzie good luck with your first rheumy appointment I hope it goes ok.

Sarah x

[Alison C]

oops yes - I was wrong - we are not meant to write full names.

Alison

[Linny]

Hi,
( Mods please remove this is I have posted in the wrong place? )
I wonder if anyone could advise us about doctors in the East Anglia area? Our daughter has gone through two years of hell at the hands of an incompidant Consultant and despite the diagnosis and physio at Great Ormond Street she has done nothing to help our child except for mental health interventions for CFS ( which she doesn't have by the way) and graded exercise which have damaged her super hypermobile body to no end.
I wont go into the details but suffice to say the catalogue of disasters are damming and incompetent at best and knowingly negligent at worse. My husband and I have not taken this decision lightly but have lodged a formal complaint against this doctor to have her removed as our daughters consultant which is ongoing as I write which leaves us in a difficult situation. We need to have a Consultant who at least has a clue about this condition but we have found out that the only one person at our hospital who did have knowledge has now left. Does anyone know of a Consultant in the East Anglia area that has knowledge of Ehlers Danlos Hypermobility type that we would ask for a referral to? or should we just ask for the referral to be in London at the HMS clinic up there? We were supposed to go back to Gosh for another inpatient stay and our daughter has also been referred to the Orthapedic surgeon there for her progressive scoliosis and damaged ribs but now the complaint has been lodged I would assume the funding has been withdrawn. Any advise would be gratefully received at the moment as we are getting desperate.

Warm Blessings

Linny

[Athran]

Heya.

I went to a very good GP last month during my visit to the UK to see my family in Lowestoft.
It was suggested that I see dr. //// since he was interested in the 'more unusual' cases. He was not my usual doctor though it was my normal docor surgery and he didn't know anything about me.

Mod edit - Name removed - privacy issues - please see rules - Site Admin

I went and told him my suspicons and I was definitlet hypermobile in all joints- well wording it tactfully so I didn't look like a smug know it all I said 'it has been suggested that I have EDS3' because of fatige, pain, easy cutting/bruising, slow healing, etc.

Hyperhobility and EDS (just the letters), he knew exactly what they were.

He took my word for it and said he'd get me to see a rhuemy (though I did have 'very flexible' on my records).
My family had a phone call a few days ago about it. My mum saw the doctor with me so she knew everything and could take care of any appointment rearranging while I was in NL untill August.

So pretty sucessful. Why haven't I seen this dr before? The others I'd seen shrugged it off and say 'take paracetamol' like it's the cure to evreything. He's normal dr now

If you want details of where this dr is, I'll PM them to you.

[Linny]

Hello Athran,
Many thanks for your reply. Forgive me but I should of made my post more clear? It was a Rhumatologist or Consultant that I needed in this area rather than a doctor. Our old doctor has just retired and our new one younger doctor is brillient and knows quite a bit about Eds/Hms but because he is new to the area he doesnt know of any good Consultants who are knowledgable in this condition as yet.
We have been told that because our daughter is only 14 and with a complex array of health problems she really does need to be under a Consultant and there in lies the problem. If we dont find one knowledgable then we are back in the same situation as previous with a useless doctor who has done more harm than good and we cant afford for that to happen again.
I have been searching the internet but had heard of one Consultant in Ipswich who has knowledge of hms and have found 4 consultants at Norwich who has a special interest in Connective tissue disorders but whether they will be good with Eds/Hms, I just dont know.
On advise from the Primary trust we have an appointment with our GP again on Friday so will discuss it with him more fully. In reality it would be better to have our daughters long term care in East Anglia under a local consultant however if the nearest one to us is an hour or more away then perhaps it would be just as easy to get referred back to London which is only an hour and a half away, London traffic permitting.

Linny

[Retro]

Hi Linny,

I don't see why this new GP can't do some homework and find out for himself which consultant would be best for your daughter.

Lindsey

[lisa.w]

we live in gt yarmouth norfolk my daughter hollie has been seeing the arthritis consultant for 3 years now waste of time every time we go .we go to the james paget hospital he says there is nothing he can do for her so he is going to discharge her next time we go because he runs a arthritis clinic not a hms clinic .so i said where do we go from here so he said at her last appointment he will arrange for some one to come in who knows about hms .so there must be people in the east anglia area.if so why did he not do this 3 years ago

[JazzyJaz]

I'm on the Essex/Suffolk borderline (just about in Essex though) and my rheumy is at Broomfield Hospital in Chelmsford, is that anywhere near you? He wasn't much good to start with, but has learnt a lot from me and is very caring at least, so not completely useless! If you are anywhere near here I could PM you the details, although Chelmsford is quite far for me anyway (I don't live near any hospitals with a rheumy dept.) so it's a bit of a stab in the dark. Sorry I can't be much help but if you do by any chance live anywhere near here let me know and I'll give you the details.
Best of luck.
Jaz.

[Linny]

Many thanks for everyones replies. We have been back to see our gp and it seems this sorry mess with our old consultant just continues. Gosh were expecting her to refer our daughter to the orthapedic surgeon and another inpatient stay only to find out that she didnt do that either so I am glad we have finally got rid of her.

That said, our new gp is a wonderful young man who is knowledgable albeit a bit out of his depth at the moment but has said that we have to have a Paediatrian as dd is 14 and has conciderable physical problems which he cant manage alone so with the information we took him he is going to do some searching. He thinks perhaps Addenbrooks might be usefull as they are relatively close and have a Paediactric Rhumatology department there but has taken all the info about Gosh and UCLH in case he feels they cannot handle the care.

He is going to call us for another appointment as soon as he knows whats what but at least thats a start and far better than what we had before which was basically nothing.
Strangely enough we have the dreaded Gestapo coming this morning ( DLA medical doctor ) but I was really surprised when he called last week and told me that he was actually a doctor who works in the A&E department in kings Lynn ( Norfolk ), apparently this a part time job he has taken on. He asked me what my daughters diagnosis was and had an intake of breath when I told him and went on to chat for a futher 20 mins about this condition. Wow, could of blown me down with a feather, especially when he said that it down to us ( meaning the doctors )to 'Educate' the Dla people as to how disabilitating and painful this condition can be. Sounds promising but I am not going to hold my breath anytime soon

Linny

[Blunderwoman]

Hi Linny

I am sorry that you are having so many problems with your daughter's doctors locally. We live Essex/Suffolk borders and also cant find anyone locally that has any idea on how to treat HMS/EDS.

About two years ago I asked for a referral to a Rheumy (sorry cant remember his name) at Ipswich hospital because I had been told that he knew all about HMS/EDS. When I finally got to the appointment the doctor admitted that he didnt really know anything about it. and I had been misinformed

My daughter sees the Rheumatologists in the Adolescent Unit at UCH in London.

Take care

[Blunderwoman]

Strangely enough we have the dreaded Gestapo coming this morning ( DLA medical doctor ) but I was really surprised when he called last week and told me that he was actually a doctor who works in the A&E department in kings Lynn ( Norfolk ), apparently this a part time job he has taken on. He asked me what my daughters diagnosis was and had an intake of breath when I told him and went on to chat for a futher 20 mins about this condition. Wow, could of blown me down with a feather, especially when he said that it down to us ( meaning the doctors )to 'Educate' the Dla people as to how disabilitating and painful this condition can be. Sounds promising but I am not going to hold my breath anytime soon

Linny

Hi

We have just got back from Hannah's DLA medical which was held in Ipswich - the doctor said he was retired from A&E and I think he said it was Kings Lynn Hospital - I wonder if we had the same doctor? He was an elderly man and I couldnt believe how good he was. He was really understanding and listened to what we had to say. Will have to wait and see what the DWP say though. How do you think you got on?

Take care

[Linny]

Hi,
Sorry for the small delay, its a bit of a bad time here at the moment as we have had a berevement in the family. I nearly cancelled the Dla visit as we are all so distraught but I know my mum would of told me that this was my daughter and she needs and deserves this help so I was comforted that I was doing the right thing.
The doctor that came here was quite young and is still an active doctor in the A & E department in Norfolk and really just doing this as a part time thing. Anyway he had done a bit of reading about Eds/Hms so was really fasinating to listen to and more so was very interested in Chelsea especially when he realised how severe she is.
All in all he was here for just over 3 hours which seemed a rather long time but he was writing things in such detail, often putting things in brackets like exactly what happens when a joint sublaxes so the Dla panel knew how this condition impacts her every waking moment.
The only thing he was confused about was what an Incomplete Marfanoid Habitus was but I was able to tell him, plus of course Chel could do the steinburg ( ? spelling ) signs ( wrists and thumbs ) and also she can put her arm around her back and around across the front to her belly button. He was really gentle though and didnt force her to do any party tricks as he knows her spine is messed up as is the right side of her ribs, but as he pointed out, even he as a doctor learned something new that day.
All in all he was a really nice doctor and I know they are not supposed to be informative or probably this friendly with giving advice like he did, but I do get the feeling that he is 100% going to suport our claim but of course its still up to the panel to decide one way or another. One thing he did explain, which I didnt know, was that the panel is usally made of of non medical people so to them, none of the names given to a condition mean anything hense having to put so much detail into whats written because if its not explained to them in words they can understand they will just take one look and dismiss it out of hand.

Like you, all we can do is wait and see what happens now but like everything with this blasted condition, its all such a fight to get the help one needs so I am not really optomistic about the outcome of the dla. Oh well it will just mean another fight on our hands and at this rate we shall be able to write a book about these wonderful resorces that are set up to help disabled people only for them to say, Erm what do you expect us to do? at each and every turn...( a touch of sarcasm for a moment )

Good luck with your claim. One thing though? how come you had to go to Ipswich and not have the doctor come to your house?

Linny

[Retro]

Hi Linny,

I'm really pleased that the visit went so well and the Doctor sounded fab!

The tribunal panel is made up of three people, one is a doctor, one is a lawyer and the other is a layperson (usually someone who deals with disability).

More often now it seems people are being asked to attend a medical rather than have someone visit them, I'm not sure why this is the case or how they decide which to use, but it is.

Good luck.

Lindsey

[DC77]

Mod Edit - Subject changed to better reflect topic - Site Admin

Hi all,

didn't know where to post this, I asked the mods and this section was suggested, so here goes.

I understand there is a clinic in Glasgow that is appointment/referral only. But does anyone has any information about Dr's/Physio's? any other services that may be of help to me in the Edinburgh area?

I live outwith Edinburgh at the moment, but (fingers crossed) will hopefully be moving in the next 6 months. Plus my work and study is also based there, so usually there 5 or 6 days of the week.

Many thinks in advance and if it is specific names or suggestion, could you please pm me.

DC