EDS Hypermobility

[SparkleRainbow]

I thought I would start a thread to see how many of you are out there, fighting the battles I am fighting. I have EDS myself, had genetic counselling and even though mine is quite severe I was told no problems with having children. I have three dc, the eldest my ds is the only one believed to have inherited it. He was diagnosed by Prof Grahame at 19 months, and has always had pain, but it wasn't until September last year that he dislocated vertebrae in his neck C2 and C3 by turning his head to talk to me. He has been in recovery ever since. In the last 11 months he has dislocated or subluxated his neck twice, his knee cap three times, his left shoulder three time and the fingers of his left hand once. He has missed so much school, he is in pain almost constantly, he has a health plan and risk assessment to be in school, he is depressed and frightened and he doesn't know at all how serious his neck problem is. I am constantly fighting with some of the Consultants, and school, but there are also some wonderful people too. I would love to hear others stories, very selfishly to know I am not alone and neither is my precious ds.

The paed thinks DS3 has EDS too, although not as bad as DS2. They are picking up on it really quickly though and he has an appointment with a physio on 10th May. He has mild central hypotonia, complete head lag and severe reflux. He vomits so much that despite being on ranitidine, gaviscon and domperidone he still weighs less than 1lb over his birthweight at 15 weeks old. I'm so worried about him. My friend just had a baby who the drs said would be likely to be stillborn or severely disabled but by some miracle she is fine. Of course I am happy for her but at the same time I feel cheated although I'm ashamed to admit it.

Sparkle, hope your ds made it through the school day ok. My mum and dad have been staying so DS2 has been walking a lot outside with his walker (I normally have him in the buggy as I can't lug the walker, push the buggy and chase after DS1 on my own if DS2 gets tired) and he has started napping in the day again.

jcmg, sorry to hear you are in hospital (((hugs)))

Hi Ellie

im not posting so much on sn mn nowadays as Ds does not seem to fit anymore so tend to stay with just a couple of regular threads and here of course

Think everyone else is caught up with the riducpars amount of holidays the kids have this term.

Am glad they have picked up on ds3 fast and the physios hopefully will get involved now .Have they looked at options for how to controll the reflux .I know theres a couple on anothe rforum that i belong to that have dc gastro problems.Wonder if some of it is becuase he is feeling weak due to the reflux and not putting on weight clutching at straws emotion i know

Not sure where you are but can highly reccomened the gastro team at Addenbrooks as being very good .

Arianne

Hope your dad is doing ok and that you had the results

Sparkle .

How is ds doing is he adjusting to the new collar yet ?.

Ds is going for his appoinment on Tuesdaywith my mum and stepdad and hospital are arranging transport or friend will take me so that I can go as long as i promise to return after.Friend is not trusting them to find me a wheelchair ( waiting on Ot to get one from stores that be mine as the one on the ward gets borrowed by others and other wards )She is pinching he rother halfs wheelchair .
Any luck i shall be home end of this week or next .I am currently looking like a ninja turtle on wheels

at ninja turtle on wheels.....setting a new trend? Gosh I hope you are doing all right. I have been thinking about you and sending you good vibes!

I am glad they are going to get you to the appointment too, think of it as time off for good behaviour. Seriously I hope you get some answers finally, and some course plotted out for ds' care and management.

Ds is hating his collar with a vengance, but it does seem to work for him. We still have no ortho appointments, and no response to my last letter. PDSS are contacting his physio though to get support for the gross motor skills work they are goling to start doing with him. He is going to visit the possible school on wednesday with TA from his current school and me, so I hope at the end of that the Head will agree to accept him after May halfterm, don't cross any fingers though, or hold any breath!

fingers crossed is it another Ms school ?so ds wont need a statement? but seriously i would look at applying especially with eye in future for senior school,

Time of im hoping we get enough time to sneak of for a drink real coffee {hopes and crosses fingers)

sorry to hear the collar is making ds not happy but glad it seems to be doing the job and arghh on the oprtho im hoping that we get some answers tomorrow and that i can say I told you so.Not sure what we will do if they say its not

I've been on holiday & having a surprisingly nice time; of course the 3 naps a day may have had something to do with it

Could hyper mobility have caused the 'giggle incontinence' I had as a teenager or eneuresis?

I only asked as the consultant wasn't surprised I was incontinent after DD

I am a bit calmer now but still doing the whole 'why me?' thing which is just plain daft and destructive....ever decreasing circles & all that

Hi all.

Can someone here explain to me the guidelines on treating/managing EDS or hypermobility syndrome?

I have hypermobility, mainly in hips, knees and ankles. I spent alot of time in hospital as a kid - skin traction for hips at one stage DD is a much more extreme version of flexibility, bruises easy, joint pain and clumsiness. She cannot walk in ordinary shoes without tripping over and landing on her face! DD also has various other problems which i won't go into now.

Basically, there was an investigation into why DD was bruising so easy, and I pointed out that she was very flexible. The doctor looked at DD's hands and decided that I was right - and he was himself wondering about a connective tissue disorder. DD has not been assessed any more than that!
This was a while ago now so I asked the GP what was happening in regards to it all and she said "well we don't really do anything about hypermobility" . I know this isn't true generally, or does it depend on the PCT?

There isn't much in the way of treatment for hypermobility as they can't do anything about the root cause (excess collagen). Saying that, physiotherapy helps and there are various supports/aids available that can be suitable depending on the circumstances. At least, that's the way EDS has been treated in our case.

Thats exactly what I mean by managing the condition. DD sees a physio for a different reason and she mentioned supportive footwear and things like that, but GP has worried me, she made it sound like there is no such thing available for DD.

Perhaps you need to push your GP for a further referral - once you have an appropriate diagnosis, then you can get all the treatment/support you need.

Mummyplum - I think the way forward is to push for a referral to a rheumatologist, who will know about hypermobility. They will assess your dd, recommend physio, which can be helpful, suggest pain management strategies, and generally monitor your dd, perhaps with 6 monthly visits, or annual visits, which will allow them to support her now and when she is older if she experiences joint degeneration. A clear dx also stops ignorant educational or medical professionals associating the easy bruising with something more sinister.

Katymac, I have never had urinary incontinence, as such, although I know it is common in EDS sufferers after child birth, however my ds suffers from it now and he is just 8! So I do think it is possible there is a link.

Justcallmegrouchy - Yep it is a mainstream school, but one that it DDA compliant. Had an email from the pct just now saying they are on track to reply to my complaint by mid May, but no ortho appointment yet, also no answer to my letter re lost and changed records for ds! Am going to have to chase that further! ARGHHHHH. How are you doing today? I hope that your ds' appointment goes well if you don't get this until after. I am sure they will confirm the dx by the way!

Hi ok ds has a dx of

connective tissue disorder possiably type 3 but has a cross over as his skin and scaring almost fits the classic type to.So connective tissue disorder is Eds but which

Proffesor Pope was lovely and i had hassle of the local physio about ds and wheelchair he was really nice and was like hmm watching him walk and seeing his pace and ds was trying and really did try the activtes he wa slike no wonder he needs the wheelchair and that i am best judge of it and that how anyone else can say i am to ignore and he will put in writing lol

We are getting refereal to Gosh as he wants ds to see specialist physio team and go under proffesor Grahams team now to cover the joint and under another team for the skin issues as it turns out he presnets with skin that has a sag in it .Did mention that we had problems locally and getting him seen and he was like there be none this time

and even more there was another specialist doctor there sitting in and she is reccomending theres a special study for dc with multiple issues that can not be answer easily and where they think could be a chromsome problem .We had basic bits done but the fancy tests are not available on nhs for 5-10 years but via this research study theres funding for them

Yes!!!!!!!! A result! I am so pleased that you are finally getting some answers, getting to GOSH, getting the physio, and hopefully some more support and tests via this research project. Have had a little cry, cup of tea and a large choccie biscuit to "celebrate" for you.

Hope you are back at thehospital none the worse for the travel, hope you had a decent coffee on your day release. I can not put into words how I feel for you and this news

glad you have got some answers and that your appointment went well, i hope the journey to and from was ok as well! you must feel relieved to be getting ref to gosh they are really good there.

we are off to gosh tomorrow dd has cardiac appt and next thurs ds has rheumatology appt-such a shame they couldnt both be seen on same day but i dont think both clinics run every week.

hope everybody else is ok

Good luck tomorrow ariane

We saw the paed today, think she is as frustrated as I am by the lack of progress of a referral to an ortho surgeon, but she is probably more polite about it! No seriously I wasn't rude, just forceful and stressed....I promise.

Hi arirane hope the appointment went well.

Sparkle paed can do a direct referal herself to Gosh

Thanks very much for the reply, our local PCT are notorious for not reffering and have had experience of that already. Hopefully I will get somewhere this time! :/

appointment at gosh for dd1 went ok, they want me to take 3 monthly photos of her chest so they can see how the shape of it is changing as its so uneven and depressed on the left side.other than that they didnt do much else they are going to review her in 6 mths time.

ds has his appt next thurs, he has been having physio at hosp every week as he had got really weak (after being unwell all winter and barely moving as was so poorly he had wasted away) he is doing well but is tired.

iam having a terrible day,woke up at 5am unable to move with terrible pain in left side of my neck shoulder and back of head and all my fingertips on left hand were tingling and hurting, my ex has had to take a day off to help me as am in so much pain.I think its because i carried ds so much yest at station,up and down steps etc as couldnt manage double buggy going up to gosh and he got tired, i didnt realise but i must have pulled/trapped something in my neck.

hope everybody else is ok

mummyplum hmm your dd not ound of a certain kid sbook are they?

and yes sadly to often they do not do a lot about it .I have had a long fight before ds3 got any physio even though was and still is behind on physicla milestones.Was3 before they started he got pidro boots then afos then into dafos but back to afos now it looks like .It was only the last 12 months have we had regular input and took almost 6 years to get Dx and finally now we have referal to GOSH

Araine glod your ex is helping hopefully you can rest up and your right proffesor pope is lovely he even asked where ds wheelchair was when i said about we been told not to use it he was like abad mum [blushnd erm they obviously know nothing about hypermboblity/eds in the severe form and hence the refeal .

No one had picke dup that ds skin is saggy i just though was little rolls when he sat down opps

Hello. I hope this is the right place.

I have HMS which primarily affects my knees, hips and lower back, although my shoulders are making it plain they want their turn now I am fortunate in that while it causes pain and some limitations on what I can do, it doesn't massively interfere with my day to day life. I am however concerned about my DC who both seem to have inherited it.

DS1 has very mobile wrists, so much so that he comfortably sits with his palms touching the inside of his arm (so folded right back) without even realising he is doing it. He is now 11 and I noticed last night that his right wrist was very 'clicky'. He was watching TV with me and 'stimming' (shaking and waving his hands, he also has Aspbergers and ADHD and finds these little movements comforting). Every time he moved his right hand, the wrist was clicking.

DS2 is 10 and very active and sporty but over extends an awful lot in the course of a normal day for him, as he regularly plays netball, basketball, football and swims so is active and moving to the limits of his body a fair percentage of the day. He has some periodic ankle pain, following a bad twist of it a couple of years ago when he went down oddly in a football match, although he walked off the pitch OK and it didn't really swell it has been a bit weak ever since.

I am in a sort of limbo atm as we are moving cross country in 3 months, and waiting lists round here for ortho and rheumy are considerably more than that, so my (lovely, understanding and very helpful) GP has basically said that if I go for a referral now it won't come through in time and cannot be transfered to another PCT, but I can't get them on the waiting list for the PCT we will be in until we actually move there.

Is there anything I can do in the meantime to help prevent their joints getting any worse? Obviously I don't want to stop DS2 from playing sport as he absolutely loves it and of course kids should get as much exercise as they are able to, but apart from reminding him to be aware of what his body is doing and stop if he feels pain (he is a stubborn bugger so would limp through a match if he broke his leg ) I'm not sure what else I can do.

I guess I need to find a middle ground between protection and cotton wool wrapping, but I'm not sure how best to tackle it. Any suggestions gratefully received :)

Hmm that is a tough one. What you Gp has said re non transfer of referrals to another PCT is what I understand to be true too. But how about getting a physio to see your dc and give them some strengthening exercises as a holding pattern?

It is difficult to see how best you can move this forward until yiou have actually moved. Sorry. I would say though, that exercise is important but can cause damage to eds/hypermobility sufferers, and so dc need careful moniotoring that they are not pushing through pain, and stopping sometimes too. Maybe if your ds2 is mature enough the gp could talk to him about how hypermobility works and how to listen to his body to protect his joints. He might listen to this if someone other than mum says it. Sorry not to be of more help.

Hope everyone is ok, are you home yet grouchy?

Have been in hospiotal with ds, he dislocated or subluxed C2, C3 and added in C7 for good measure over the weekend! Home now, no school yet, but lets face it he is not exactly missing much!

hello, we are all ok, have gosh appt tomorrow afternoon for ds. He has been having physio every week at local hosp too so hopefully will start getting a bit stronger.

hope everybody else is ok

Hi Ariane

Hope your dad is doing ok. Good luck tomorrow! I am sending you best productive thoughts. Ds seeing rheumatologist tomorrow too, will be interesting discussion......been hospitalised again, all medical professionals telling me he needs mri, you promised referral 9 months ago, you have lost medical records, imagined other records, changed dx with no explanation........ARGHHHHHH....and you wonder why I made a formal complaint to pct? Not an appointment I am looking forward to. Still no school for ds.

hi katy yes it could do as the bladder is a muscle and muscle tone problems go han din hand with hypermoblity

Hi pious
Ye smoving pct is a bit of a pita .I would call them up and let them know you are arriving in the area what I did when we was going to be moving and did find it meant they got ds on their lists and they had already asked last pct trust for their notes .

Same as you i have ds2 that has hypermoblility( all mine do at difernt leveles) but does a lot of sports and over extends he does not even realise .But am going with the let him get on with it .Mind at 14 i do not have the option and i hold my breath every time he plays rugby

The clicky wrists sadly thats normal he may well have the tendon clicking over a bone especially with stimming so repetive .

Hi Ariane

Hope your dad is doing ok and good luck with Gosh Today .Were waiting on ours to come through.So we can get some proper input for Ds3

hi sparkle

Good luck with appoinmnet ping and let me know how it goes

Ds back at school, still in loads of pain and on limited "duties". Appointment was frustrating, made a point of mentioning the complaint and actually found the courage to say " I do not apologise for it, the level of care has been very poor". I was quite impressed with myself.

Ortho referral to birmingham not going to happen, birmingham have just buried it in a long waiting list. Local hosp, say the are going to do MRI.....we wait and see.

Hope everyone else is doing ok.

Hi

sparkle sorry to hear ds is still in pain.

Sigh sorry to hear that orth will not play ball .Maybe time to insist on referal to Gosh and your gp can do it so you can get some advice and then maybe they can refer to birmingham to co mange ?

Ariane

Hope you and kids ok.How is your dad doing

Hope everyone else is all ok