EDS Hypermobility No. 2

[SparkleRainbow]

We reached 1001 threads, so here we go with a new thread. This thread was originally started so we could get together and share experiences and expertise in Ehlers Danlos Syndrome, Marfans, Benign Joint Hypermobility, and any other medical conditions including connective tissue disorders which cause joint hypermobility, pain and all the associated symptoms.

THC Is that the DDD project? DH, I and the DS's are probably going to be on that but we have to see the paed neuro again first.

THC - It is good news about the study THC, anything that might help get answers and further the medical professionals understanding has got to be a good thing. How is ds now, are you still in hospital, or are you back home?

happy birthday sparkleDS - well he is too young for , weren't right and they don't have
I'm adopted - and the 1 thing that it had on my medical notes was to keep a check on my eyes - could be linked?
just going to pick up DS1 from netball - I kid you not. He is soooo tall, that he is apparently a really good defender as the others (mainly girls - but not all) are far shorter It also means that he gets another dose of exercise.

Ellie. Yes that's the one but only way tO get on it is through Genetics They won't take referrals from anyone other than genetics .

Not sure if you already seen them or if someone can refer you to genetics ASAP they are still recruiting

Sparkle were going home ASAP Ds is up and down like a yo-yo but think he is enjoying no Physio :)

Sparkle

I went through hell. Hv who met him Once instigated a CP review because I was to pushy . That was investigated and was agreed no CP issues

But we then ended up with the disabled children's team involvement and that's when they became anti wheelchair and I was aware that close scrutiny of everything I said and I do know there's something on his noted but ironic the apology I got is not on them

Why am kinda glad his collapses happened when I was not there and in front of medical personal so no one could deny how serious they are . Also in some ways the first week at Gosh was good because Sue is now on same song sheet instead of spouting the normal song about no orthtics and no wheelchair we kinda gone 360

I read the notes inbetween transfers so know it's in there also the old letter from paed questioning me pushing for Eds states mother is convinced that Ds has EDS where in my iPhon he is not suffering from this condition and that genetics referal is something she(paed) feels not needed as she doubts genetic condition mother seeks answers not needed

Mind in the same folder is letter from Proffesor Pope stating the EDS dx and the rare type he has and that he felt more to it and his silence that he not met Ds before. That be be aide no one soils reger him also genetics letter that states he is sure Riordan does have a chromosome condition so I make point that they read them and even other nurses agree they would be pushy to if wax their dc and they asked if I ever got an apology because if not I was due one

Ops that be because no one would refer him to professor Pope *

We only got it so paed could say I told you so ( that he dis not habe efs ) lol that dx did feel good

I think if you write a letter to records at the pct, they would remove that letter from ds' file.....It is dreadful that they get to write this stuff and we have no comeback over it. I know ds' file says comments like mum is not satified, because he wrote it in referral letters which were copied to me!!! It is true though I am not satisfied, mainly because he is a sanctamonious, unhelpful git with his head up his own arse....oops where did that come from, sorry everyone, as you were.

Well, we went up to UCLH in the torrential rain and thunder (will do a separate post about the clinic) and much to my surprise didn't see Dr Sen (who was the dr on the appt letter) but instead spent a whole hour with Professor Graeme .

DD officially has EDS type 3 and POTS, but because she doesn't have joint issues/pain he's not going to see her again. Instead he's going to write to a Professor Matthias at St Marys who is the top guy in the country for POTS to see if there's any way he can see her (he doesn't see under 18s on the NHS, but will see from 16 privately) as she's only 14. If not, he's going to ask him to sort out someone at St Marys to see her, rather than the Brompton (he wasn't impressed with their letters dismissing EDS).

Other that that, she's to carry on with dancing and school PE; he doesn't want her to go back to trampolining (which she was doing at quite a high level), which she's quite sad about, but as she hasn't been doing it for the past year, is kind of resigned. He also wants her to stop wearing the ballet pump type shoes she wore today (which I told he would get her told off, but hey, she's 14, I'm only a grown up , what do I know ) and to wear Dr Marten-type boots. He's going to put that in his letter so that we can tell the school (as boots are massively against their uniform policy, they're going to so love us ).

He thinks that both DD1 and DD3 are hypermobile (from the family history he took) but unless they have problems then they don't have EDS. DD1 is too old, and DD3 is too young for that clinic though, so DD3 would have to go to GOSH, and DD1 would be in her local adult clinic.

He was also adamant that psychogenic fainting wasn't something that should ever be diagnosed, and was furious that rubbish paed had told us that basically it was all in her head. DD is delighted that she now knows what she has (even though we still need to find a specialist to deal with her), and i'm pleased that I (p[lus Dr Google) have been proved right (I diagnosed POTS last June, and EDS in November, it's just taken this long to get the medical people to agree with me )

ellie - DH and I were at Nene College between 1988 and 1992, so I'm a bit older than you

Fantastic news, well done midnight. I am so pleased Prof Grahame came up trumps for you. All that he has suggested sounds very sensible to me. Now you have a plan of action and a sensible dx, this is all good stuff, and totally validates what has been happening and how your dd feels.

I wonder should I push that gp referral and ask to see him again for ds....not sure he can offer more, and I am in continual search of more answers about ds' neck, but ........such a debate in my mind.

Adolescent Rheumatology Clinic at UCLH review.

The clinic is in a separate building to the main hospital, but right next to it and well singposted. The cafe is in the main building. I was really impressed in the cafe as a manager in a suit was clearing tables, and picking rubbish up off the floor . Prices were reasonable, lots of staff eating there too.

There were lots of signs directing us to the clinic (it's downstairs), and DD reckoned the waiting room was nicer than the one at the Brompton (she doesn't like the train there though). We arrived half an hour before our appointment at 2, but the nurse called us through at 1.40 to do BP, weight and height. Professor G (who we weren't actually supposed to see) wandered in, and said that he'd see us as soon as the nurse was finished (so she never got her wee sample ).

Professor G was really really really thorough. He has his own checklist of stuff he runs through, and explained all the way through which things were hypermobility markers. (he dismissed uveitis and PCOS as connected btw).

He finished up by saying who he was going to write to with his recommendations, pointed me to the EDS support group, and was pleased I'd already found their discussion forum. He was also happy to put something in writing which we'll need at school (permission to wear boots to support ankles - school has v. strict uniform policy), as well as writing to everyone else currently involved.

We left feeling very reassured that we'd been taken seriously. I can't comment on what any follow up would be like (physio, counselling) as DD has been discharged, but the "who's in what room" board had two physios listed (one specifically adolescent rheumatology) and a counsellor, so presumably they are proactive about using them. All our paperwork seemed to be there, Prof G took time to read the stuff our GP had sent him, and I'd say that was probably the best medical appointment we've had since this all started last year.

The clinic sees DC from 13 to 18, but DD at 18 would be too old for a first appointment. Younger than 13 and they would be seen at GOSH. Hope this helps for those of you needing to think about where to go in the future, we were very impressed.

THC - doesn't it feel good when they finally admit that yes, it is whatever condition that you KNOW it is

So true!

THC - I would be sooo tempted to write a letter of complaint about the paed to the GMC. if there is an equivalent, the hv too. Reason being is that it stays on their file - and they don't like that. Make sure it is cc to the paed as well - just so they know whats on their file
It might also make them think about what they write in the future. The last thing that they need is a file of complaint letters if anyone takes them to a disciplinary hearing.
Planning on doing this to a paed who told me that DS2's diarrhoea was psychological and asked that he be seen by CAHMS (who refused). followed by the dx of IBS, gluten and dairy intolerance by gastroenterologist after asking for a second opinion. See how she likes this on her file

midnight excellent news. It gives a warm feeling knowing that sometimes appointments work.
I'll be keeping my fingers tightly crossed that everything happens as planned.
Just remember that wearing certain style of shoes recommended medically has to be allowed. Disability discrimination/inclusion/SENcop - all phrases to spark fear into any school

Aunt I did complain Loudly and officially and have letters of apolgies I'm now complain to pct that they seem to be missing fro
His file .

But hospital were fine they said amount of dc they seen when there's no obvious answers and parents then pushing that have had Ss called on them often by no one with any clue and even said it shows that there's nothing more mentioned in the file that it was obviously a wrong call by Hv etc

And the following dx Letters supersede it anyway

Midnight that's intresting I must admit I'm not impressed with Gosh . Though next time we see consultant not the Reg

THC - but did you make sure that the GMC got a copy - not just the hospital?
Ime - hospitals 'lose' letters and files far too often. Once on their GMC record - never deleted

auntevil - I'm quite happy to shout loudly about medical need, but, the only style of DMs DD is prepared to countenance wearing is the kneehigh ones, and as the school is having a uniform crackdown (due mainly to y10-11 girls wearing stretchy "belts" instead of skirts) I'm not sure they'd go for that! We're going to ask for a permanent "uniform pass" but say that she'll wear trousers so that the boots aren't that obvious. While I personally like the boots + short skirt combo, I don't think it's exactly school appropriate . They've been pretty good about things so far, so I'm happy to compromise.

Aunt yes they did and I carry copies to of apolgies to hand to any Dr that see us with a I figure this maybe missing from his file

I also carry folder with letters from various people confirming dx etc so if questions raised about anything I have the relay en documentation to hand . Mainly it's for my own reference but few times Drs have been grateful as theysu not been copied in

I always take ds' files with me too, so I can show things, or raise questions with them. Sigh....it should have to be like this though should it.

I am feeling rubbish today, dh is drinking too much which does not help his depression, ds back at hospital again for orthotics today, which is good but it feels never ending for the poor lad. Knackered with getting up for poorly dog, who is not recovering well from surgery. Haven't lost weight I ahad hoped to before my own rheumie appt in two weeks......all little bits getting on top of me, sorry for the moan.

sparkle moan away all you need am on yahoo if want to talk

Ironic we had intresting time with gastro with ds2 who are refering to gentics and calling proffesor pope as they wnat him seen urgently as they agree his gastro issues may well be eds but are also worred about marfrnas syndrme due to build and height .Found addenrooks are a lot more open to discussion than GOSH we know it all attitude

sparkle we all need a good moan every so often - go for it. I find that an accumulation of lots of niggles and smaller issues that don't seem too easy to quick fix is worse than a major ordeal - which tends to focus into dealing with straight away.
- I'm just imagining THC giving every dr a copy of the apology - just for their file of course