Here some suggested organisations that offer expert advice on SN.

EDS Hypermobility 3

(826 Posts)
elliejjtiny Mon 11-Jun-12 23:12:28

Not sure how to start this off so I'll just copy and paste sparkle's opening post from the last thread and hope I've spelt hypermobility right in my thread title grin.

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.

mycarscallednev Tue 12-Jun-12 07:02:40

THC - my son was told to find his 'happy place' - he had to do this at the pain clinic at age 7! It's Lego Land, he says - where you can take off bad legs and put new ones on that don't hurt.
It's all very well, but when they are going into shock because of the pain, the 'happy place' is bloody difficult for them to find, and its pain relief we need. We're supposed to practice 'finding the happy place' when he is feeling OK along with breathing...................!

yep cars that says it all .Drs that say it have infact no clue what it is like to live with pain like that

mycarscallednev Tue 12-Jun-12 08:47:35

If there is nothing constructive they can do, I'd much rather they were just honest and say so. I hate feeling that we're just being fobbed of with 'that'll do'.

Well done Ellie on starting new thread! smile

Ds's clinical psyc is good, she doesn't suggest "happy Places" but talks about relaxing the muscles so as not to increase the pain being felt. His rheumie is a strong believer in "happy places" though, and if he suggests it again, I will be directing him to an alternative world of pain "happy place"

Thanks for the wheelchair advice. I think I need to go and find a shop and have a look, taking your advice with me, and see what is what. I will do it first without ds. It has to be able to be folded up and fit in the boot, so that will have to be the first criteria.

Double - shock treatment....although not that surprising sad

Luckily in a roundabout way . Ds3 does not often complain of pain but I dis cry when it was pointed out to me that he probably is in it but as always had a level of pain never known what it is to be pain free . I felt like a crap mum that day

But fortunately he is a happy child so easy to forget

Cars seems nothing constructive for ds3 been told basically go away and get in with it your just Havd to mange it which is disheartihg when you think you seeked people out for help and they say no to complex for us .

Yet they expect parents to cope learn

Sparkle only thing is that makes heavier . Tip measure Ds from back of his backside to under his knees . Then again from under kneels to his feet do them while he is sitting then 3rd measurement with him still sitting measure across his backside or hips which ever is wider

Will give some idea of what size you need, once got ghat eBay is often a good place to look

Bugger that your not nearer

mycarscallednev Tue 12-Jun-12 16:44:21

THC - what you are saying is exactly us - you're complex, we can't 'cure' you, so we'll let you come along for the ride, but don't ask too many questions as it makes us uncomfortable. We were also told the reason we get shock symptoms with the pain is due to him feeling it all the time - so therefore 'normal' for him, but when it gets unbearable his body shuts down - nice!
Sparkle - our blade will only go in 'nev' - a Fiesta, if I take the wheels off and the foot plates - a real pain - but it will go in dh's Picasso complete.

Need to measure boot to get dimensions for that too, don't want hassle of having to take wheels and footplates off even if only using it for days out etc.

mycarscallednev Wed 13-Jun-12 09:35:58

Having a nightmare preparing for AR of Statement here - anyone have any suggestions, am surrounded by paper and reports and files!!!

Why is everything so effing difficult?!!!!!

Sorry, but I know you understand, its all a bit much today again. xx

The wheels should be quick release so does not take to long . Foot plates often are just click on taking them of helps reduce the weight

Oh and I would seriously Reccomend non puncture tyres

elliejjtiny Wed 13-Jun-12 13:30:43

Big wheels at the back make it easier to push. DS2's wheelchair will be like that for this reason and because occasionally he might want to self propel.

I've just been attempting to fill in the medical forms for school. I normally put down "hypotonia, hypermobility and gross motor development delay" on forms because I get fed up of people saying "oh I've got that, look I can bend my finger backwards, that's not a disability is it?" when I say he has BJHS or EDS. On the form there are separate (small) boxes to write down disabilities, special needs and medical conditions. I'm not sure which category those come under and I could write an essay on how they affect DS2 and still not cover everything.

mycarscallednev Wed 13-Jun-12 13:42:47

Ellie - I usually just do a 'see attached' and give them the essay that way along with an explaination of the difficulties - if you don't they'll just dissmiss it anyway.

THC - we had pneumatic tyres to begin with - never again as I was allways worried we'd get a pucture - have solid ones now, and having big rear wheels is great as it allows them some independence when they are out and about. Usually means he wheels himself to the Lego, nearest toy shop, sweets.......!

So I need to make sure of the following:

Collaspable and will fit in boot
If wheels and foot plates have to come on they are easy to remove and fit
Large wheels at back
Solid tyres
Not too heavy
Wheel guards(?)
Anti tip mechanism(?)

Thank you all x

Ellie I write Ehlers Danlos Syndrome and then attach a list of physical problems, how affects learning, how place needs to make adaptions, medical emergency info etc.

And adjustable so grows with him

Yep I go for anti tips bit try get flip sways as it's painfull if he tips self to far back and goes flip . I may have done that once or twice in my chair blush

elliejjtiny Fri 15-Jun-12 11:25:59

Thanks sparkle and cars, better get writing my essay then. We've got the adaptations sorted, just need to make them understand that he gets extremely tired doing not very much and no it's not the same as when other children get tired. DS2 had one of his stay and play sessions at school yesterday. He was so tired he was hyper. The teacher was the one who is a lovely teacher, good at teaching but clueless about SN watched DS2 running around like a mad thing while I told her about his wheelchair. I think she was surprised that DS2 is getting one and they didn't just write "mother is an overprotective loon" across his notes. Of course today DS2 is lying on the floor watching cbeebies because he can't do much else.

mycarscallednev Fri 15-Jun-12 13:46:39

Ellie - 'boom and bust' our consultant calls that - but its so hard to say 'stop now' because tomorrow, when you are young seems like years away. We pay the price every time, but have now accepted that a day of fun means pay-back the next week, and so we just spoon in the pain relief and go with it now.

deepbreath Sat 16-Jun-12 09:48:36

Hello smile long time, no see!

Just trying to catch up with everyone now I am borrowing a laptop that works. Saw that you're now on the 3rd thread, that's amazing. I will try to update you all on what's been happening with dd since last time I posted, but will just say that DS has now been diagnosed with hypermobility and dyspraxia.

Sparkle - we had a Blade Plus wheelchair for dd. It was purple and lovely, but as the footplates didn't fold, I had to unclip the wheels and even then it was still quite large to fit into our car. Now, because dd is so tall she has a teenage/small adult size wheelchair. It folds down much smaller. Some places don't supply spoke guards to stop little fingers getting caught in the wheels - our local PCT doesn't, but as dd can't self propel very often it isn't too bad. Also, watch for the anti tippers as they b. hurt when you walk into them when you're pushing the wheelchair!

auntevil Sat 16-Jun-12 11:07:33

My cars - I so know what you mean. Not with the hypermobility (DS1) but with diet (DS2 and 3). Both are gluten and dairy intolerant, but not dx coeliac. The result is 'evacuation' after eating of 20/30 minutes and stomach cramps. So we have times when they can just eat what they like - and suffer the consequences. Like me, they will soon come to realise that you really have to want something to suffer the consequences. But it also means that they can feel just like their friends.
DS1 was in A&E this week, with the same ankle problem as last time. I did get the feeling that the DR was almost less interested because he is hypermobile - as if 'what do you expect'. Not that he wasn't kind, but just 'hello again, you know the routine' . So I felt quite sad for DS. Although you could tell the parents that have frequent visitor passes, they come prepared for a long wait! grin

tried to post a long post on the last thread, onyl to discover it was full grin.

Anyway, info for reference for anyone in the future - Dr Ninis at St Marys has a seocial interest in PoTS in EDS and runs a clinic twice a month on Wednesdays. Her secretary is very helpful, as are the paed outpatient admin people. Dr N is listed under general paeds rather than rheumatology or Paed syncope clinic.

DDs appointment will probably be 8th August (Dr N is adding in an extra appointment slot for her grin), so I'll review the clinic afterwards.

Does anyone else/DCs have PoTS as part of EDS, or is it just DD? I've found PoTS-ey people elsewhere, but none of them seem to have it as an EDS symptom, and I'm not sure if there would be any differences in treatment/prognosis.

DD2 is off on DofE expedition this weekend (with DD1 tagging along in case she faints, cracks her head open on a rock and needs a ambulance - the teacher in charge has been very throrough with his H&S risk analysis wink)). I'm following the "if I don't hear from them, then she's fine" school of parenting, so currently she's survived the first 4 hours!

mycarscallednev Sat 16-Jun-12 13:57:22

Yes we have a link to PoTs too - and the genetics team assured[?] us that there is a link to EDS, but that there isn't a clinic just for children with this.

They offered us Prof. G and Prof P. together [we see them individually at the moment] as it was 'interesting', but am feeling a little p'ed off with that label at the mo and need help rather than chat!

Our 8 year old presents with vasovagual faints, tachicardia, hot/cold with pins and needles and itchy skin amomgst others that we are told are all part of it. They put it under automonic nervous system dysfunction to tie in some of his other dx's I'm told. You get to a point where you're not sure what symptom belongs to which syndrome as they all overlap!

I'm thinking of getting our son a 'medic alert' bracelet as I worry when he is away [not that he is much tbh, as we Home Ed] - does anyone else use these at all?
https://secure.medicalert.org.uk/shop.php?action=category&id=6

Nev - Dr N at St Marys may be the missing link for children (once you hit 18, then it's Professor Matthias' clinic waiting list - around a year at present I think sad), but I'll reserve judgement till we've see her. The Brompton weren't especially knowledgeable about PoTS (although to be fair, it may just have been the locums we saw), and were very dismissive about DD having EDS. Has your DS had a tilt test? DD managed three different types of faint during hers grin but the nurse there was incredibly helpful.

Re medic alert bracelet, DD will be getting one now that we know what she's got (a random "she faints, it's OK" isn't really going to cut it with medical professionals wink), but the difficulty is knowing what to put on it. I understand from people on the STARS discussion list that PoTS doesn't work very well as hardly anyone has heard of it, but VVS isn't the same, as DDs faints aren't just on standing up, it can be up to 10 minutes later, and obviously the tachycardia needs to be in there too. I'm going to ask Dr N when we see her what would be the most helpful terminology to use. Also we decided DD should have a bracelet rather than a necklace as I had visions of her strangling herself as she fell over....

bizzey Sat 16-Jun-12 18:30:10

HI ALL ...gosh absolutly no advive or help realy for what you are going through regarding wheelchairs but....

In in my new car i have to take my dads foot plates off to go in the boot and found it helpful to label them left and right !!...

.Might sound silly but when you are trying to do it quickly you havent got time to do "trial and error"(espesially when the old man is trying to get out of car by himself LEANING ON THE DOOR HANDLE !!)

Or is that just me not seeing the difference between the two foot plates confused !!!

Nothing to do with what you are all going through but i thought I would share some news with you all ...

DS put some shorts on today (? from last year ) and HE COULD NOT DO THEM UP !!!

I had to adjust the waist band by 6 button holes each side !!!

He is still skinny ...but he must be growing grin

I had the school nurse on the phone asking for permission to to do W/H measurments and when i told her of his confirmed DX and that pead is not worried about it as he goes on "red book "percentiles of W/H and not BMI she became a different person and asked me to spell his DX'S and wished me well (she is leaving the area in July)

Wish I could help you all more on giving advice ... I seem to always be asking and not giving sad

mycarscallednev Sun 17-Jun-12 10:10:09

Midnight - ours was confirmed whilst having s video-urodynamic test - after fasting and then going on a tilt table, he went into faint from laying down to being brought to standing. He had also just had cardio tests for his fainting episodes. They put all this in a pot with his other autonomic dysunctions and they and genetics came up with PoTs!

elliejjtiny Sun 17-Jun-12 15:41:12

Thanks bizzey, will definately write L and R on the footplates of DS2's wheelchair.

MIL took me, DS2 and DS3 to tesco yesterday. It is getting more and more difficult to get DS2 in the toddler seat in the trolley these days and because he hates being in a "baby seat" he is usually in a massive sulk and then he and DS3 start fighting. The 2 trolleys with 2 toddler seats were in use anyway so rather than getting a separate trolley just to put ds2 in I borrowed one of the wheelchairs that tesco has near the entrance and put DS2 in that. As it was an adult size wheelchair I wasn't expecting him to start propelling himself so it was quite funny when I turned round to get some carrots and then turned back to see him moving off with my list on his lap and a determined look on his face grin. I took a photo of him and I'll try to put it on my profile. Only positive comments from other shoppers, I was quite impressed. DS2 and I are just waiting rather impatiently for his wheelchair now.

auntevil Sun 17-Jun-12 15:47:47

ellie Lets hope that DS2 keeps thinking its cool as it will make the drudge of shopping a little easier.
DS3 (5 in July) still slips easily in and out of the shopping trolley seat - kept in there by edible bribes. Probably the only advantage of being a teeny one - that and other people's lower expectations of his behaviour hmm
Bet he can't wait to start propelling himself in his new wheels grin

elliejjtiny Sun 17-Jun-12 16:08:11

Photo should be on there now smile.

I think it's an unwilling thing rather than a size thing auntevil as DS1 can still get in the trolley if he wants and he is considerably bigger than DS2. DS2 is a dead weight at the best of times and although he can move his legs in all sorts of positions I struggle to get his legs to move through the leg holes in the trolley when DS2 doesn't want to.

auntevil Sun 17-Jun-12 17:12:18

Bless him, he definitely doesn't look unwilling to be in the freezer aisle in his "borrowed wheels" grin

Ellie - He looks like a little man with the world at his feet.....well wheels anyway!

Midnight - My ds has had a few episodes of VVS, but does not have an official dx yet. I used to have postural hypotension as a child, then they finally got round to recognising my very fast heart rate and very low blood pressure. That, tests, etc led to dx of Neurally Mediated Hypotension, which is completely linked to/caused by the EDS. I also have a mitral valve prolapse, not it is not too severe.

Busy week this week, Ds has lots on at school, but school are beiong very supportive and understnad he will keel over at some point. He also has hospital appt with nice Paed this week, to discuss fact that ortho surgeon wants to mri whole spine to see if spinal tethering causing incontinence, rheumie thinks this is rubbish, and believes his nerves are affected by position they run in spinal column, being too close to the surface than is "normal"......to MRI or not to MRI.....Will see what she says.

timeandmoney Mon 18-Jun-12 21:00:20

Hello

I started a thread earlier today before knowing there was this one. I wonder if any of you can advise, if you don't mind.

18 month old DS has started taking about 10 or so unaided steps but still lacks confidence. I've presumed hypermobility as I was diagnosed when pregnant with him, and it runs in my family - though none of us have been that challenged by it.

I took him to a physio drop in today at the Children's Centre - thought why not? - and although they were too busy to assess him, they said he had very hypermobile fingers. But they weren't too worried, said he was close to walking unaided, even if his gait is immature.

He's totally weight bearing, climbs, crawls, has good fine motor skills - can pick up a piece of sweetcorn no problem - and has recently held a crayon and scribbled, even if it wasn't with finesse!!

My concern is - when will I know if his hypermobility is a 'problem'? When will I know if he'll experience pain? I got quite upset today about this. And should I take him to a proper physio? The woman at the Children's CEntre said it probably wasn't worth it at his age. She also said they see lots of hypermobile children, with hands like his, which made me feel like it wasn't anything out of the ordinary (even though she said she could bend his fingers back 90 degrees, although I've never seen him do this)

Thanks for reading

bizzey Mon 18-Jun-12 23:35:19

HELLO timeandmoney....and welcome...I saw your thread on the other post and wanted to reply but didn't have time to do it properly or even know if I had the right information to give you to give you peace of mind ...??

On this thread there are alot of us who have very different expiriences of H/M and EDS and we are on our third thread now and all have different expieriences with it (I joined thread 2) and I i really dont want you to be looking on the downside of all our messages when you read them back as your LO is only 18 months old and ours are a bit older !

But ...the only reason I understood and learnt more about this was on MN so I will give you my history....but at 18 months I think it might still be a wait and see... my ds3 is 8 yrs next monthand only just been given formal dx

It was first noticed at his 8/9 month H/V check where h/v noticed he didn't want to weight bear (would not "bounce "on my legs) and was a slow slak/lazy feeder with slow (non-existant)weight gain.
I have an unrelated (we think at the moment ) problem with walking in my family which is why my H/V refered me to peads to get him asessed.

He was diagnosed with HM in his ankles which was causing the lack of stability in his feet ....she said it would be like trying to stand on a wobbely board iykwim..

At that age they are not bothered as they can strengthen up as they grow....I only started to get concerned ?2/3 years ago..

IMO PLEASE DONT WORRY !!! 18 months is very young... things can change...

Stay on here and some one might come along with more help than me ...there is alot of help and surport and wine and brew if you need a chat ?off load/moan !!

HTH

Hello Timeandmoney - welcome to the thread, nice to have you...iyswim! wink

As Bizzey has said 18 months is still very young, although I certainly knew my ds had eds before that, and the gp agreed. The most improtant thing for you at the moment has to be just to be aware, and keep a keen eye out on his development. Don't expect a lot of support from the medical profession as most on here would agree that support is not often forthcoming, however there is bags of support and a wealth of experience on here, whether it is a big question, a little issue, or just a chat! I will plump up the sofa cushions and make room for you by moving my substantial backside up a bit

I think it is a good thing to have gone to the drop-in centre yesterday, well done for facing that demon. I am sorry you felt a bit upset afterwards, but I can completely understand why.

As Bizzey says, don't worry too much about what you might read on here, most of our dc are older than your little ds, and some have some more complex problems which are out of the "norm" for eds/bjhs.

I am not sure how much you know, so forgive me if I am saying stuff you already know about....bear with me.

Ehlers Danlos Syndrome is a autosomal dominant genetic connective tissue disorder, there are several different types, most of which include a degree of joint hypermobility as one of their symptoms. Benign Joint Hypermobilty Syndrome is considered by most experts to be the mild end of the scale, but basically to still be EDS Type 3, There are people on here who have, and or their dc have different EDS types, have an BJHS dx or have Marfans. Some people have a clear dx, others are still struggling to get one. Some dc are just affected in their joints, others have more pronounced affects elsewhere in the body. The one thing I have learnt about eds over the last 22 years is that it is different for everyone.

My ds is 9, he was dx by Professor Grahame at UCHL when he was 20 months old. This is very unusual, Prof Grahame even said so himself at the time. I have EDS, and although he is my first ds I knew from birth he had it, he was too flexible. He was late to crawl, roll over and walk, but not excessively so. His fine motor skills were always excellent, picking up small objects etc. I knew that his joints just moved too far. I knew what to expect but still in hind sight I can see I missed pain signals from him even as a small child. He cried too much when he tried to roll over, his shoulders were subluxing.....I didn't realise at the time. At 3 he regularly complained of leg pain, particulary mid calf, and had terrible cramps. It was only when he was school age that I started to notice real differences with his peers. He tired easily, he struggled to be able to dress himself, his handwriting was poor, he would sublux fingers and knee caps very easily. At 6 he really developed the probelms he has now, he dislocated his cervical spine, shoulders, knees, fingers and hips. His handwriting deteriorated rapidly, he was in severe pain nearly every day, his gross motor skills were very poor compared to peers, he also started fainting and having vasovagal episodes, lost weight and had poor weight gain.

Depending how you rate your gp, would determine what I would do next. It is really difficult to spot whether they are in pain or not, but if you think he might be, and your gp is a "friendly" I would pop along and discuss your concerns, whilst acknowledging that it is early days. A rheumatologist is best placed to make a dx, although some gp's refer to Paediatricians, having said that they might not want to make a dx at this stage. Still a chat about what to look out for might be reassuring for you. A physio is not qualified to make a proper dx, although they will have a very good idea. My ds has an excellent physio, but she always says we have to check things out with the rheumie.

Bottom line, don't worry, most people who have eds/bjhs have little or no problems at all, try and remember that.

Sorry that is a bit of a marathon post....did it help.

Hi time and money

I ahve 4 dc with eds and only one of them experiances any real problems with it.£ have type 3 and just to be different my youngest probaby as more rarer type

often dx before 5 i unursual unless strong family line or extreme problems .

Ds got offical dx of Edsage 6 though was classed as hypermobile from 18 months .Though yes he is evere and yes he does struggle .He stil has a normalish childhood

sparkle how is Ds and wahey at least look like the Pd team are going to get involved with ds3 and transition though will see

timeandmoney Tue 19-Jun-12 13:20:51

Thanks to all who responded. Really appreciate it. Feel better today!

I've not noticed DS being in any pain; he is a very smiley, uncryy baby...I do notice that he's bendy, but I've never noticed his fingers going back, for instance. So hopefully his 'range' isn't too bad.

I've decided to wait a couple of months. He met all his milestones fine - not early, but not worryingly late. Sitting up - 6 months, crawling 10 months. Walking has been the latest - he's 18.5 months and he's now walking unaided of up to 15 steps but I've noticed, day by day, how much stronger/more balance he's getting. He has a big head (not noticeable, strangely, but at the top of the centiles) and tiny, tiny feet which haven't helped.

My nephew has hypermobility syndrome and he was diagnosed at 11. he's massively hypermobile but is very fit and he's only had a bit of pain in one knee. He's got to do exercises daily. I'm hypermobile but only found out during pregnancy - my joints post DC have worsened, for sure, and my arches in feet collapsed - but I'm also into a lot of exercise (4 times a week) which I think helps.

So - I hope to ward off the worst for DS and will keep an eye. We do tons of exercise with him (stuff he enjoys) and will keep him active and fit. If in 2 months he hasn't progressed as much as I'd like with walking, then I'll get a complete physio assessment.

Thanks again. Hope that wasn't too boring a read!!

And if there's anything I should do - tips/recommendations - to keep him well now, then do advise.

THC

I am glad the PD team are getting involved with transition....they were fantastic for me and ds, really got behind us and made it happen. I have my fingers crossed that they are as good for you and ds.

Ds is ok, tough week ahead though, he has got a couple of performances with his class, one being until really late, 9.30 ish on Wednesday night, which will mean I won't get him home until welll gone 10. They are just little school things, playing the violen with his class etc, but a lot of physical stuff in being on his feet all day until late, and so I know come thursday he will suffer. Last month was such a bad month, we got through so much medication, and guess what he grew 1/12 cm in a month! He is eating very little too, tiredness related maybe. Physio is rather stuffering, which I know is a false economy in the long run.....

How is ds doing? Is your appt with Prof G next week? Hope you are ok, will try and message you later.

elliejjtiny Tue 19-Jun-12 20:46:48

Hi timeandmoney. My DS3 is probably the youngest on this thread, he is 17 months old. He has hypermobility and hypotonia (low muscle tone) and probably has EDS type 3 but it's a bit early to tell really. Your DS sounds very similar to my DS1 at that age. He walked at 21 months but hit all his other milestones at average times. He is now nearly 6 and he is a bit bendy and quite often comes home with an "I was given first aid today" sticker on his jumper but other than that he is fine. If your DS doesn't cry a lot then he is probably not in pain. My DS2 has more severe hypermobility and he has always been a very grizzely baby.

Sparkleno guarantee that he will meet their critera . Got to wait and see .but getting nervous now as have Proffesor Grayham next week then local oars 2 data after so hoping he can refer us to people that can help .I shall be bringing up his height or lack of it moreto the point .

Orthtics tomorrow as well

POTS has reared it's head as a possible cause if his dramatic collapsing so be intresting see east happens

Hope the after school stuff goes well and dies not hit him to hard . Were enjoying the break from Physio as was advised to stop for a while

Big day with school today, has started the day needing pain killers.....hmm not sure he will make it to the end, time will tell.

THC - Who has suggested POTs, seems eminently pausible to me. Especially if hospital was a bit warm, as they often are, that makes me and ds go all wobbly. Who is going to investigate it for him?

THC - good luck with orthotics today.

Timeandmoney - I think Ellie's advice about whether your ds is crying or fussing a lot is a golod indication of whether he is experiencing pain. In hindsight I can see that my ds was doing this, and you are ahead of the game compared to me.

timeandmoney Wed 20-Jun-12 10:52:29

Hi Ellie and Sparklerainbow

Thanks for replying to me.

No, he's not a crier or a fusser. He's quite placid in some ways. I work part-time and his child carer and I have talked about this. She hasn't thought he's in pain, and she's very much 'on it' with him. He also has crawled a lot as he only started seriously walking about 4 weeks ago (17 months) and crawled from 10 - and he's very fast without indicating it hurts his hands or wrists.

I have weak wrists, though, so it wouldn't surprise me if it turns out that he does.

Thanks again - hopefully his journey with bendy joints won't be too bad. Bendy fingers crossed!

elliejjtiny Wed 20-Jun-12 10:55:59

On the subject of pain, when should I be giving pain relief? DS2 whinges a lot and sometimes says his legs hurt but not often and I struggle to work out whether he is in pain or just tired. The only way I can tell is to give him calpol or neurofen and if he seems happier then it was pain but if not then it's tiredness. Is there a better way of doing it? He is 4 and has probably been in pain on and off since birth so it's hard for him to explain when it hurts and when it doesn't.

bizzey Wed 20-Jun-12 11:48:08

elliejjtiny...I have been thing the same regarding pain relief ....pain can cause tiredness... and tiredness can make pain worse !!

I dont really want to be doing regular pain killers ..i doubt if it can be good for their little insides and have not been "medically"advised to so not questioned it with any doctor yet.

He is going on a school trip next week which will involve alot of walking and being told to "hurry up"!!!! We live in London so public transport is always used and then he will be walking around the British Museum. The walk to station and school is 15 mins (therefore x2).

Was thinking of giving him calpol and neurofen before he goes to school..?

Do think it might keep the pain at bay ???

Giving out pain relief is a difficult one. I probably didn't start giving it out regularly until ds turned 6, and we had the incident with his neck. It is not good, but my ds does have to have it regularly to be able to function. I am careful that school and I only give ibuprofen on a full stomach, but ds says the ibuprofen works better than paracetamol.

I do use the pain killers prophylactically for ds, when I know he has a strenuous day ahead. I don't know if this is the right thing to do, but it is what I do anyway. Before we went to London and did the Natural History Museum in half term I dosed him up before we went, and during the outing too. He still had significant pain, but I think he recovered faster afterwards.....could be coincidence though as we had the use of the wehhel chair too.

Ellie - if he says specifically that his legs hurt, I would give out a dose of paracetamol.

elliejjtiny Wed 20-Jun-12 17:13:33

Thanks sparkle and bizzey. I give him calpol when he says his legs hurt but there are a lot of times when he just lies on the sofa grizzling and I'm never sure what to do then.

auntevil Wed 20-Jun-12 18:12:39

Pain relief is a tricky one. I don't like giving any of mine any medication. With DS's IBS he has been given pain relief, which the gastro paed did want him to take continuously. I argued that he only needed it when the pain got over a certain threshold. I thought that the only way we would ever get to the route of what causes his IBS (unless it is the hypermobility - dr is out on this one) is if we can tell what triggers the most pain. Yes there is a logic in there somewhere grin
Had the paed's report on DS today. Some interesting bumpf on how broad hypermobility is as a dx - and that one paed's opinion of mild is another's opinion of more severe etc. Lots of stressing that hypermobility is normal - and occurring at a normal% in general society - blah blah blah.
One interesting thing that she did not really mention at the meeting was sport - and how gentle sport will improve his general well being/core strength, health etc - which I can go with - but that he needs to be wearing wrist and ankle supports whilst doing anything. Have any of you been advised this, and if so, how practicable was it at school. This is remembering that DS cannot get dressed on his own - Do school help with this?

Auntevil -Sport is an interesting one, as is whether school will help him with changing. I adapted ds' sports clothes to make it easier for him, and make him able to wear his aspen collar (the school's top is a t shirt and he can't get that over his head, and can't wear it with the collar) he also goes bare foot inside (whereas everone else wears pumps) as he can't fit his feet inside pumps. At his old school I refused to let him wear formal shirt and tie, he couldn't do the buttons, but much to their dismay I gave him a polo shirt to wear as he could pull that over his head and collar. They really didn't like it, but they weren't going to take me on over it grin.
Ds's old school would not help at all, some individual teachers adapted pe for him, and supported him but most couldn't give a flying ....... His new school would do anything for him, anything to help him join in, so guess it will depend on the school. Ds's present, fantastically inclusive school adapt all pe activities around ds, he used to always wear his collar, but now only when he is experiencing more severe pain.
I guess if you present it in the way that his Paed has said you must do this, and he needs help with dressing, they will toe the line and help.

For newbies this is an Aspen Collar, and what my ds has to wear to protect his extremely hypermobile cervical spine.
www.blatchford.co.uk/clinical_services/960149%2023%20Vista%20Aspen%20Collar%20Pat%20Info.pdf

auntevil Thu 21-Jun-12 14:13:27

I spoke to the sports co-ordinator today. She is kind, but pretty useless. She did get back to me though and tell me that the physio will come and talk to me on Monday as to what the best supports might be.
The sports co-ordinator did say that DS's wrists worry her all the time - she is convinced that one day they will snap as they flick back and forth through every activity. She was also worried about his right ankle as he often goes down on it shock - umm, why had I not been told? I know he has a problem with that one in particular, but there's me thinking that its all due to trips at home biscuit

yup ds3 i another that has uniform sort grinof that works best for him .

Pe at the moment ds3 does not get changed just becuase it takes him to long and lesson be over

Orthtucss hmm tosser is how i descibe new one he made his descion apparently with 10 seconds of meeting him without looking at how he walk.But will tacke him after next week

we have appoinment and have reps out to look at seating for ds3 on 3rd July so my chasing payed of

and the PD team are going to go and assess his needs to see if meets their ful critera frigging budget cuts but it looks very possibile

THC wins the day....yet again.....by fighting every battle. Glad to hear you are getting input from seating reps and the pd team are going to assess....surely he must meet their criteria!!!!!!!!!!!!! As for orthotics.......the quality of an orthotist seems to vary hugely.....I am beginning to wonder what their training is. hmm

Auntevil - is this a sports coordinator at school.....hmm at them not telling you about their feelings re his ankle and wrists....actually I would be a bit angry about that. Are orthotics not going to provide the supports he needs?

Incidentally I have wrist splints which look like this...very helpful for me. orthopedics.about.com/od/carpaltunnel/ss/carpaltunnel_3.htm had them for my eds since a teenager, used them also for my carpel tunnel, not that they have worked with that at all.

auntevil Thu 21-Jun-12 18:58:53

The sports co-ordinator is a TA - a very sporty one, with very sporty children, and probably the only one that volunteered. I got the feeling that when I mentioned it to her it jogged her memory and she made that comment more as an aside.
The paediatrician said that hypermobility is normal - exacerbated by dyspraxia, exacerbated by low tone - so no support from any department as such. OT have given him a sensory diet as they are more concerned with his SPD (due to start sensory integration therapy next week). They recognise the hypermobility, but as such treat the majority of symptoms as dyspraxia. The only physio input we have is from the school - as it has a disability base.
I'm trying to go down the gastro paed route for the hypermobility issues now as paed refused to acknowledge the IBS/Hypermobility connection. I have a triple appointment for all 3 DS in July, and I'm armed with what test to ask for and how much it costs the NHS, and the fact that initially I would be quite happy if only DS1 was tested, with further tests based on his results.
Either that, or they will be so hacked off with his visits to A&E that they will eventually acknowledge how often he 'goes over' on his ankles.

bizzey Thu 21-Jun-12 19:54:22

auntevile....that must be so frustrating for you regarding IBS and H/M especially when mine said there was a connectionconfused

I had not been too concerned about his bowle and wee situation as there was sooooo much else going on ...but when pead was checking his notes at end of consultation (he was a different one to whom we saw 1st time) he said"oh good he is on movical"(or something like that) and i said "do you think it all connected"....he replied "oh yes (cant remember it word for word )

went on about bladder been able to streatch more and lax bowle movement as in side is floppy as well

Sorry auntevile but can't remember what your ds problems are ...and there are toooo many post for me to go back and find grin

But I get the impression yours are more problemic than ours..which are......alternating from "hard poo"(constipation) and "mushy poo"(very very loose) needing lots of toilet paper and help to wipe (tmi grin)

He complains of tummy ache alot which alot of the time I had put down to "schoolitis"!! so it will be interesting if the movical "sorts"things out ?

Just realised how long it has taken me to wite this ....I started before Emerdale came on and now its nearly finished an hour long episode!!! so i might have x posted with people !!!!

grin Bizzey you were safe in respect of xposts....I was still attempting to get my dc to bed, all temperatures, sore throats and headaches here.

Ds saw paed yesterday.....did I say this already? They are going to send him for a spinal mri.....sometime......some day.....somewhere....

mycarscallednev Fri 22-Jun-12 12:05:24

Sparkle - not sure where you are, but my ds had a spinal MRI at the Evelina - they were lovely with him, he needed a GA as he wouldn't have managed without. They were looking for tethered cord as he has a lipoma with his spina biffida occulta. Hope you find out soon, and you all recover from the lergi. Poor you, nothing beats the Calpol Trot at 2am, and then in the morning you realise you did spill the bloody sticky stuff after all! xx

elliejjtiny Fri 22-Jun-12 13:25:46

cars glad I'm not the only one who seems to spill the calpol every single time grin. DS2 woke up in the night in pain and I think he ended up with more calpol on his bedding and pyjamas than in his mouth.

sparkle I've often wondered what training an orthotist has. The one we see just measures DS2's feet, tells me if they've grown and then says I can pick up the new piedros in 4 weeks and see you again in 4 months. He is always over running so goodness knows what he is doing as he only ever calls one person in before us. Hope your ds gets his mri soon. We had to wait about 3 months to get DS2's one I think.

THC Glad your chasing paid off with the seating. Is that for home or school? What is the PD team? We have the PIMS team (physical impairment medical support I think) here who assessed DS2 but I don't know if it's the same thing.

Mycars and Ellie [grin} @ calpol......good job ds has red duvet cover, still have to wash it to get rid of the sticky patches, but at least it isn't stained!

My ds had an mri last year, a flex and extension one of his cervical spine. He managed that without ga, but with the help of Queens Greatest hits, played very loudly into his headphones! He doesn't seem too worried about mri two, yet anyway. They are looking for a tethering in ds as well, not that is what it is, the problems he has are related to his cervical spine, even the rheumie has admitted that now, just have to wait for the ortho surgeon, who has asked the paed to do this scan, to catch up to the page I have been on for nearly 3 years now hmm

PD team here is known as the PDSS, the Physical Disabilities support service, and they are the best thing since the proverbial sliced bread...got ds into the right school, got dd1 into it too, amd dd2 into the nursery, got wobble cushions, foot rests, touch typing lessions, loaned computer, self esteem and gross motor skills support teacher for over a term, supported school in organising swimming lessons at local baths....all fab fab fab.

mycarscallednev Fri 22-Jun-12 17:10:45

Hey Sparkle - I'm moving to where you live! We have the F.A. Support Service here - does exactly what it says on the tin, you may say!!

auntevil Fri 22-Jun-12 19:52:34

LOL at F A Servicesgrin
Although seriously blonde as I thought mycars was really going to live near Sparkle blush I was thinking, 'how nice, they'll be able to meet up.' DOH!!
My friend the paed consultant, defo says hypermobility and IBS related. He has given me the test that needs to be run. He was also disappointed that when they had endoscopy/colonoscopy that they didn't do a muscle viability dissection.
DS3 has GOSH in July, and I'm suspecting that he hasn't grown or put on weight since last time, so I might see if they will take up this info. The following month all 3 have appointments with gastro consult, so will also bring it up then.
If all else fails, my friend has said that we will arrange a day for DS1 to be 'suddenly' taken into his hospital's A&E suffering from his painful cramps (easily brought on for real by giving him fruit) - and as the consult on call, he will OK the test based on his past history (which he knows as he has a copy!)
Can you tell I hate being without a plan!
bizzey DS1 dx dyspraxia, hypermobility, SPD, IBS, food allergies. DS2 likely to be hypermobile - already had hip issues, all the usual atopics (asthma, eczema, food allergies), IBS and just referred to CAMHS by school as concerns re anxieties and social development. DS3 - Also showing signs of hypermobility (although only 4), usual atopics, IBS and dysphagia. He is unable to move food around his mouth to swallow. He is at GOSH re lack of physical development, having gone from the 98th centile at 2 to currently not much above 15th, although not plateaued. Basically enough to be going on with with the 3 of them grin . But I am forever grateful when I read some of the issues on the SN section, as I know the DSs are not suffering as much as some of the other DCs

mycarscallednev Fri 22-Jun-12 20:04:34

I think if we all moved to the same postcode we may get the NHS to sit up and take notice - EDS overload may count for something - and if not, just think of the party we could have!

auntevil Fri 22-Jun-12 20:26:03

At least we could all show there was a need for a specialist locally - and I've always fancied Cornwall. I come from smuggling Cornish stock originally - one that took on the authorities and with bribery and skulduggery won. Do you think it could work on the NHS? grin

mycarscallednev Fri 22-Jun-12 20:34:26

hey I've Cornish blood too - oh 'eff maybe that's the missing link - the one Prof Pope keeps missing - its oggie related after all!! We're not in my lovely C'wall now though and our LA are shite with a capitol S - lets work out who has the best LA [Sparkle your's is looking good!] and just bugger off there!!

elliejjtiny Sat 23-Jun-12 15:35:43

I'm up for a move, just have to convince dh to leave his shed grin.

Just thought I'd ask those of you with older children. Is there a cure for EDS that suddenly happens when a child is 5/6? No? Thought not. So why do people keep saying that DS2 will be fine when he is in year 1? It's always the people who have no clue who say things like that. Sometimes i feel like strangling the next person who says it.

In other news DS2 got his high rate mobility smile. We found out yesterday. Only until April next year though so in a few months time I'll be filling in the dreaded forms again.

bizzey Sat 23-Jun-12 17:10:04

ellie ..yahhhh congrats on getting hrm did you get care as well ???

Only asking as i am due to send my form in this week ...if i get it tidied /reworded enough !!

A friend is reading through my rough scribble of a draft this weekend(her ds gets it so knows the language needed)

Feel funny about applying ...one minite I am up for it as I could do alot of extras with him ..then the next i feel no i shouldn't as there are far worse than him i am making a fuss confused

Don't want to move but would love to meet to see if my images of what people look like match to what i have got in my head with just names and what they write !!!!!!!

Had general meating with my lovely SENCO and she said she would photocopy at school anything i need to send for DLA as otherwise it would cost me a fortune.... ahhhh bless her !!

Now ..just to remind you that I have a GOLDFISH MEMORY ! are all our dc's (mainly ds's if i am right ?) ALL thin/skinny (underweight ?) and smaller than their peers ??? Coincidence ??

elliejjtiny Sat 23-Jun-12 18:34:32

bizzey Good luck with the dla claim. DS2 got middle rate care too although we had been getting that since he was 1. The underweight thing, well DS1 is fairly small all over, 25th centile. DS2 is around 9th centile for both, bit over for weight, bit under for height. He hasn't been weighed since christmas and seems to have thinned out a bit since then. DS3 is fairly average for a 7 month old, except he is 17 months old so he is generally small. DS2 and DS3 were both failure to thrive as babies. DS3 due to reflux and DS2 due to not being that good at breast or bottle feeding. When he got a bit older my mil was feeding him crap at every opportunity and that seemed to help (but don't tell her I said so grin).

DD is smaller than most of her friends, but not skinnier (29DD bra, bit of a nightmare to buy sad). DD1 is shorter and slim, DD3 is tall and very skinny (ribs showing fro t and back, we had to enforce a "tshirt on when in a leotard" rule when she was trampolining as it was a bit eugh otherwise...

So no pattern with us

28 not 29,that would be hard to buy wink

deepbreath Sun 24-Jun-12 22:57:33

Good luck for those of you applying for DLA.

Ellie, sadly there hasn't been such a cure for dd who is now in year 4 - where did that time go?! Some people do seem to talk out of their opposite end...

Bizzey, my dd is 9 and has Marfans so she is slim but quite tall for her age (the tall, slim thing seems to go hand in hand for most kids with Marfans!)

IShall, I kind of hope that dd ends up fairly well blessed in the chest area as she has pectus excavatum. Some adults with Marfans/CTD's ended up having corrective surgery (which lots of hospitals aren't keen to do here in the UK), or some resorted to having breast implants to try to mask the dip in their chest.

Sparkle, dd had to have an urgent MRI of her neck last week as the Orthopaedic surgeon noticed that something wasn't right. It was confirmed by xray that dd has larger than normal gaps between the vertebrae in her neck so just waiting now to see what happens next (have already been warned of the possibility of having to take her to Birmingham Children's Hospital to see a Neurosurgeon).

elliejjtiny Sun 24-Jun-12 23:22:37

deepbreath I thought I'd be right. I keep asking why he'll be fine in year 1 and I just get the answer of "well, they all catch up in the end" hmm. I keep getting a response of "all 4 year olds get tired" from one teacher when I try and explain how exhausted he gets. He spent the last settling in session asleep in the corner of the classroom, hopefully the teacher gets it now.

DS2 has been watching some of the songs from glee today (thank goodness for dvd's, just had to go into the special features and press play all songs, not like when my mum had to fast forward to the songs on my grease video grin). He asked me if he could do that thing Artie does when he balances on one back wheel and spins round.

<<makes mental note to superglue the detatchable anti-tippers on DS2's wheelchair and crosses Artie's name off list of positive role models for a 4 year old wheelchair user grin>>

Mycars - grin at your F.A. support service!

Auntevil - that is a plan I could work with...I hope it won't be necessary for you, but I think it would work just fine./ Nice to have a friend who is a paed!

Bizzey - mine is a ds, thin/skinny but tall for his age (75%tile). When he grows, he grows up, but puts on no more weight and so gets thinner and thinner. He was on the 94%tile until he was 6 six his pain got much worse.

hmm and biscuit (being the response they deserve) at people saying he will be all right in year 1!!! I got that for year 3 and now I get it for year7...oh yes it will all have gone by the time he is 11, honestly!!!!!!

Good luck with the dla claim. I know what you mean about feeling there are others worse off, but try not to dwell it is hard enough to do to face what is involved in living a normal life as possible for our dc, without adding guilt to the mix. Despite what the government may feel about us, DLA is supposed to be therre to help.

Ellie - yeah! smile big celebrations on getting the mobility!
Can't help but grin whilst still frustrated on your behalf, at your ds asleep in corner of classroom during taster session, if the teachers doesn't get it now, I would suggest bashing her over the head with eds literature until it sinks in that this is not normal for a tired 4 year old. grin at role model for Artie.

Deepbreath I had forgotten your dd has pectus escavatum, like my ds. Is it getting worse or holding its own at the mo. I think ds' worsened last year, but seems not to have got any worse this year. I am thjinking we might get away without surgery. When do you get the results of the mri? What is the significance of larger vertebrae gaps (which I have by the way)? It sounds very worrying. Ds' ortho surgeon at Royal Orthopaedic hospital also runs a clinic at Birmingham Children's, His name is Mr. Marks, although we have only ever met one of his minions.

auntevil Mon 25-Jun-12 13:43:30

Bizzey - DS1 is the only one dx hypermobile (amongst other things grin) - and he is tall and skinny. One GP did once mention Marfans though, as he has slightly droopy eyelids, but then he is lazy, so maybe the eyelids are too?
I'm currently thinking that DS2 could be hypermobile - but with no side effects. He is very athletic and sporty - almost overly so. But I have noticed a curvy angle in his spine. It looks straight from full on back view, but when he turns to the side, the spine looks far too round. He is very tall and very skinny.
DS3 at nearly 5, is also very 'bendy' - but probably a bit too early to tell. He is failure to thrive and at GOSH because of it. He is very skinny, and very short - but wasn't born that way. sad
DS1 was seen by the physio at school today as he went over on his ankle, again, and I wanted advice as to exercises and support. The school still seem quite adamant that he should partake in sports day. Unlikely!

Auntevil - Are the school aware that all the twists and turns he does on his ankles can damage the ankle joint? It is all very well them being pushy about sports day, personally I am very inclusive and would want him to be able to join in but it has to be undertaken in a safe way, which limits the kind of damage he can do...it makes me cross that they are being pushy without listening to you.

Scoliosis is a well documented "side effect" of EDS, and I would guess like all things it doesn't have to be very bad scoliosis...there are degrees in this....possibly. Who is reviewing him next....would be worth getting his spine checked.

As for ds3, I know from this thread that as a tertiary centre GOSH can not refer to their own departments for a different condition, but maybe the argument that his failure to thrive could be EDS related and he is showing hypermoibility like ds1, so it is all part of the same possible dx and could they get a rheumatologist involved.....not really a different referral, just getting the right dx in the first place.....or am I just wishing that that is how it should work. hmm

deepbreath Tue 26-Jun-12 14:52:37

Ellie, one of the other parents of a child with a CTD has a whole album on Facebook of photos of all of the weird and wonderful places that their child falls asleep! When my dd was small, I put her tiredness down to her being on beta blockers for her heart. Btw, I would love to see a wheelchair wheelie too, but not if it's likely to cause a dislocation! A local special school put on a course to teach kids some wheelchair skills like that but we decided it would be too risky for dd to go at the moment.

Sparkle, dd's chest seems to dip in more when she's having a growth spurt. We know when that's happening because it gets sore. I asked dd's cardiologist about options as he commented that dd's chest wall was starting to put pressure on her heart but I got this look hmm and was told that surgery would only ever be offered if the dip got worse as they consider it to be a "cosmetic" procedure. Still no news yet about the MRI but it's only just over a week since she had it done. I think they are worried about spondylolistheses (?sp), where the vertebrae can kind of slip over each other. They haven't told me that, but that is my guess. I know a lady with Marfans that had a fall and did something similar to her lower spine and lost about 10" in height because of it.

Auntevil, the sloping eyes is one of the things that some doctors pick up on with Marfans, but I have seen people with other CTD's that have a more obvious slant. I think that the hypermobility as a stand alone diagnosis isn't as bad as when it comes as part of a CTD. My ds has hypermobility but as his overall muscle tone is quite good, he has only subluxed or dislocated very rarely. Most recently, he was playing swingball with me and tried to clobber me with the ball - he took a swipe with the bat and subluxed his shoulder! It went straight back in on its own though.

will catch up reading stil ongoing with battle physio latests plan next year is he is to leave early to walk to swimming and then inish the lesson early and walk back .

Thats what physio wnats she said no wheelchair lol i hope they have comfy spot in afternoon becuase he will be wrecked

but on the good news jut got back from seeing proffesor Grayham and he is fab ,Tols him Gosh was ignoring proffesor pope letter which I gave him copy of and he agreed .Ds3 does have eds and base don his exmination he concurs that type 6 is very very likely said he is one of the most bendiest dc he has seen in all his years of praticing .

He then got ds o stand up and sit down few times while he took his presssssure and heartrate and then again as ds went on floppy and said he suspect ds3 has POTS as a extra .Even though is mor eunurusal in younger dc but ds dramamtic collapses point towards this

Siad he would love to have ds under him on nhs but he is not contracted to nhs for under 13 but he is writing to Gp to ask ds to be refered to a colleague of his in the nhs who he works closely with and he is digusted with GOSH .

Await letter /report with intrest but best £300 i have ever spent

oh and funny enough ds3 is very tint weight and height so failure to thrive but none seems to care but was picked up on today and he wants tests done

and he wasintrested in ds2 reckon he sounds like Marfans but with gut issues to .so has given me some helpful info

auntevil Tue 26-Jun-12 17:15:55

THC - it took me forever to get anyone to be serious about DS3's failure to thrive. It makes me mad when I see news reports on parents 'not in control' of their child's weight, and that they should just go and see a DR. Do they not think that most of us have tried? they're just not interested. Then , when they do take some notice, they almost suggest that you've been doing nothing all the time.
Sparkle - I love your positive attitude about the NHS. I would love that it should work as it should, rather than work occasionally if you find a service that gives a damn. Written by someone who is way past the positive side and is hovering between pragmatic/realistic and resigned grin
Well DS1 did sports day this morning. He had ankle support, and it seemed to work. Its a little swollen, and he has come in and sat down and not moved since, but he is happy as he did OK. TBH, sometimes, when things work out, he does get a boost to his self-esteem when he does better through effort than some lads that do not have his difficulties. No medals, but no shame - so overall I'm pleased he went

THC - I'm so pleased you got what you wanted from Prof Graeme - even though it does't change anything, having someone "official" confirm that GOSH haven't been dealing with your properly, must make you feel a bit better wink.

If it's Dr Ninis you're being referred to, her next clinic with appointments is likely to be in September, as we've been bumped back to the end of August clinic.

Yup that's who he wants Rio under . So the letter to GP will ask them to refer him ASAP .

Just hope GP listens to him .but yeah I figured be after the summer due to frigging Olympics . Just hope not the standard 18 week wait but if we get it I'll even settle for the wait

Yup he can't believe that letters from HOSh etc just say he he hypermobile ignoring the dx that was given by Oroffedor Pope

Course others see Gosh and then ignore anything else . But Wien someone with his experience says well that your dc in top 30 of kids he seen in all his years for being hypermobile you hope someone listens

Aunt yup I'm expecting someone to point finger out and say I'm not feeling him properly or enough etc etc . Forgetting that eldest is gone my daughter is find but ds2 has problems putting on wright but least is growing intact rather to much

Any of you ladies going or considering to the national EDS conferance in September .?

THC - I wasn't aware of the EDS conference....I would be interested in going, where are the details?

I am thrilled that Prof Grahame was so positive, I have always liked him, but after your previous experiences I was unsure. So dx of type 6 from him...not unexpected, but still sad and POTs too. The marfans for ds2 also sounds feasible doesn't it.

Heard from clinical psyc yesterday, she is coming into school on Monday 9th to feedback to school what was obs by her colleague and how best to support ds's psyc needs. Sounds positive, I am going too.

yep thats the one Im going for weekend package luckily can split the payments .But the Dr , proff Grahame is sending to people is infact one of the speakers at the confernece and figur eif he has faith in her then im game and be intresting talks to

OO that sounds promiing hope that can help ds with his self confdence

no definte on the pots but he feels it is strong chance and wants more done .

let us now how ds gets on ? .We have the PD team going in next week to on the 4th July

I would look at picking one of the weekend days, the programme will be issued on 2nd July it says, and so could try to pick "best"day. Will talk to dh about it tonight, and see if he is available for child care.

Good luck with the pd team, I hope your is as good as ours is.

yeah though you can take aif you can be good to meet you smile .I know one of the peakers is Dr nelli ninis who is who proffesor G is sending people to see now

the STARS conference is having several sessions on PoTS at a much cheaper price, if you're like me and went [gulp]. I think that may be of more use to us actually, but I'm going to wait and see what the different sessions are for this one before making up my mind.

dam it midnight that look good to but with that im not sure if ds has pots for definte yet .

its chance to discuss his type im wanting

THC - It would be great to meet you! I would be interested in hearing her speak too!

Midnight - although ds and I are both affected by either pots or neurally mediated hypotension, it is the more general eds that affects us, ds in particular and where I think I have the most to learn.

Yeah there's no program of who and what times till early Julybut I do know she is attending as was confirmed today

I'm doing weekend £300shock but that does include dinner Friday night breakfast and lunch on sat and Sunday and banquet dinner on Sunday . At the moment there is payment scheme over 3 months

1st payment in June then July and August

bizzey Thu 28-Jun-12 12:10:50

HI all hope everyone is wellsmile

THC I looked up that conference....sounds good and well worth your money if you are going to get some answers that you are looking for ...

I had my copy back today of what pead wrote to my GP .....Pead is going to do referal to genetics but no mention of rhummie ??? Does that maybe happen after we have seen genetics...not 100% if they are connected or separate ?

But had my little shock of the day when i turned over to read that he has asked GP to do the referal to community pead in our area for assesment of NEURODISABILITY shock

OK i have googeled and am not that shocked that they might be looking for other things as well as i have had my little niggles as well about things but.....

i am feeling a little shock that my niggles may be right !

auntevil Thu 28-Jun-12 13:16:14

How are you feeling bizzey ? Being proven (possibly) right is a 2 edged sword. You feel pleased that you're not imagining things, but sad that they might be right. No winners with this sad
On the plus side, at least things are moving, and you might find some answers and support.
Have a brew - its a little early for wine - and think positively about new input.

elliejjtiny Thu 28-Jun-12 14:24:35

That conference looks really good. Is it something they do every year or is it a one off thing? We wouldn't be able to go this year as it's the w/e after ds2's first week at school and he will either be lying on the floor or having a massive tantrum by then. Quite fancy downloading the info and leaving it on the teachers desk though grin.

bizzey Thu 28-Jun-12 14:46:14

Thanks auntvil....I am fine having a lovel coffee and now more worked up about the fact that Andy Murray is going to be playing while I do the school run ...he has just started now grin

Well if anything comes from it, it can only be positive and will make sure everthing is in place at school to get any other help he needs.

Off now to re- tune my car radio to the channel that does alot of GRUNTS !!!

Ellie it's I think yearly or two yearly from what i understand but you kight want to call the helpline and check I admit I'm going minus the kids grin

Bizzy it is s shock ANC mind goes into overdrive when they start looking for new things . Enjoy your tennis

Sparkle how are you and how's Ds

Waves to everyone

Anyone had their dreaded sports day yet . First attempt it was rained of today was 2nd attempt fortunately we was nit in but Ds was not taking part as he tried fell over cried and got scared of to many kids<< someone called him a baby >>

On upside saw paed today she is jot going desk with Eds said not enough known by her and agrees referal to Dr ninis be good

But she wants me to check that short is not related to Eds as She is worried about Ds size at last and I did not even need to ask at age of 7 he is 111cm and just under 18 kg sitting him right at bottom of the charts
But she has started carrying out done base line tests . For growth hormone and a bone age check also a test for short stature coeliac

mycarscallednev Fri 29-Jun-12 08:21:07

Hi everyone, THC - glad you seem to be getting somewhere at long last, its battle though isn't it?
Still waiting for GOSH to call us back...........since March, have chased this week as ds is getting worse and need some idea of where to go. Northwick Park [genetics] have found 'irregualar abnormalities' in the skin sample and so we wait for the next biopsy result but they say its 'eds with crossovers' - hedging their bets I think.
Ds had a massive sublux which resulted in projectile vomiting with the shock and pain - anyone else had this before? I think its just a pain reaction like some people get with a migraine? He's struggling at the moment and its hard to keep motivating him to push on each day.
Bizzey - we saw Neurodisabilities - at GOSH because our local team here are rubbish [what a surprise], here they are only interested if you are ASD, and dx you with this as you cross the threshold as it fits better with the education system rather than anything as yet unknown to them!! Its from this assessment that we had the additional dx of Dyspraxia and Dyslexia though, and it meant that our local team concentrate on the issues he has rather than ones he doesn't.
Hugs to everyone xx

Cars good luck chasing GoSh but I do have a number thatight get you through direct yo Dr Pilkington bit other tip is ask for the sectarys or do in writing

Ok confirmed people St Eds conference

Professor Mathias{ pots}
Dr Adam Farmer [gastro{

Dr William wallis ] cardiac problems in EDS }
Dr Alan Hankim ( chromic fatigue and fibromyalagia

Dr Nellie ninis ( she is the one p G is sending people to

do you know who is on which day? I'd be really keen to hear Prof Matthias (as DD would be transferring to his clinic in a few years) as well as Dr Ninis, but knowing my luck they'll be on different days. Might have to see if the finances (and DH's tolerance at being abandoned) will stretch to both conferences.

Midnight no don't know which days hopefully 2nd July should know

Yeah why I booked for weekend in the end plus ok yes means I get a break to grin

Once more comes out will post

I talked about it with dh last night, and he is supportive of me going to one of the days of the conference...will pick the best day. Wouldn't it be lovely if we got to meet each other too, frankly worth going just for that wink

THC - sports day next week for us. I can not believe that your ds is still not getting the right support to take part, and shock at someone calling him that! A child did that in ds' class in the autumn term, and told his sis that he had been taken to hospital when he hadn't....dd1 (who was only just 6 at the time) was so angry, told headteacher who went absolutely ballistic. Not had any more such comments from the little madam (cos she is) since......yet!
Ds is in terrible pain with his left hip, and transferring pain into his mid thigh. Ta is going to take him to the swimming pool this afternoon, to see if the water and gentle movement helps.

Mycars - pain is a horrid horrid thing. Ds has had vomiting with pain before, although not projectile thanksfully....I pay 20p a vomit if they get it in the bowl and not over the floor, settee bed grin I am such a kind mother. hmm and yet not surprising that you are still waiting to hear from GOSH. Irregularities in the skin sample means not EDS III though, so what are they looking at? <worried emoticon needed>

Bizzey - we have never seen a geneticist, was dx by rheumies, well by Prof Grahame after direct referral to him. No-one has ever suggested seeing a rheumie, even prof grahame gave me advice regarding having children.....that was donkey's years ago though as I guess things have changed.
My ds sees his paed in the neuro clinic too, but I just thought that was because she had a space in that clinic and slotted him in...it may be where they put dc who have issues that would affect their schooling, as she always asks about how supportive school are being and if she can help, with no other dr other than the gp does.

sparkle

we was sent to proffesor Pope as Rio does not seem to fit anywhere and even now jut had chat with him on the phone as he is convinced more than EDS going on and is waiting with intrest for the gene reults in next few years tha be done and he has decided that time to push ahead with the muscle biopsies

sparkle/never

what about trying the eds helpline see if they cna tel you who is taling which day 0208 736 5604 .be good to meet you ladies if you cna make it

sparkle lot if ds cant cope with that amoiunt of people and everyone dashing around but yes im trying to refrain from wanting to find out whi9ch darling it was and talking to his mum

.Sorry that ds is struggling hopefully the pool will help with ds pain .Im seriously considering a hotub in garden as he loves hydro so much

ok hve list of who is takling when
Saturday 9.45am
Keynote Speaker – Dr. Clair Francomano MD – Title TBC

Dr. Francomano is the Director of Adult Genetics at the Greater Baltimore Medical Center in the USA. In addition to her expertise in genetics and the hereditary disorders of connective tissue, Dr. Francomano has a long interest in integrative medicine, including nutritional supplementation and applications of energy medicine to optimize health

Saturday 11.00am
Dr. David Low – POTS and EDS
Dr. Low is a Clinical Research Associate Fellow and the Clinical Research Lead for the Autonomic and Neurovascular Medicine Unit at St Mary’s Hospital, Imperial College London. Dr Low’s research, as well as the research of the Autonomic and Neurovascular Unit, specialises in cardiovascular and thermoregulatory physiology, as well as allied areas of autonomic function.

Saturday 12.15pm
Dr. Khullar MB BS – The Bladder and Gynecological problems with EDS
Dr. Khullar is a specialist in Obstetrics and gynaecology and Urodynamics (Bladder issues) with a special interest in EDS and will be talking to us about the complications that can arise within these areas with EDS. Dr. Khullar is a subspecialist in Urogynaecology with multiple publications in the field of urinary incontinence and vaginal prolapse. &#8232;Current areas which he is involved in are quality of life assessment after vaginal prolapse, co-ordinating a multinational studies using collagen mesh for anterior vaginal wall prolapse and studying treatments for mixed urinary incontinence.

Saturday 2.30pm
Dr. Adam Farmer PhD MRCP – EDS and the Gastroenterological system

Dr. Farmer is a Gastroenterologist and will be talking to us about gastro problems in EDS, including the bowl, reflux and digestion. Dr. Farmer has authored over 20 published articles, written seven book chapters and has delivered lectures both nationally and internationally. His main clinical interests concern all aspects of gastroenterology and endoscopy including irritable bowel syndrome, oesophageal disorders, defaecatory disorders and the evaluation and management of chronic abdominal pain.

Saturday 3.45pm
Dr. Claire Williams and Dr Netali Levi – Psychological issues with EDS

r. Williams and Dr. Levi will take their expertise and experience to talk to us about the psychological issues that come with a diagnosis of EDS, and the problems that arise from years of no diagnosis. They will also discuss the anxiety and depression that can come with EDS.

Saturday 5.15pm
EDS UK Trustees and Staff Q&A

sunday
Sunday 9.45am
Dr Alan Hakim MB MA FRCP – Fibromyalgia and Chronic Fatigue with EDS

Dr. Hakim is a Rheumatologist and member of the EDS UK medical panel. Dr. Hakim will be talking to us about Fibromyalgia and Chronic Fatigue in EDS. Dr. Hakim trained in Medicine at Cambridge University & Addenbrooke’s Hospital, then Medicine & Rheumatology at UCH, London, and an Arthritis Research Campaign Clinical Fellowship at St Thomas’ Hospital, before becoming a Consultant Physician & Rheumatologist at Whipps Cross University Hospital in 2001. &#8232;&#8232;Over ten years, as Lead Clinician Dr. Hakim maintained & developed a high-class Rheumatology & Osteoporosis service, and large portfolio of clinical trials, and in education & research he has 100 publications, including chapters in 4 major textbooks & co-authorship of 5 1st Edition books.

Sunday 11.00am

We will be holding workshops within the following categories so that people will have a chance to talk and share their thoughts, experiences and stories.

- Parents Workshop
- Young Adults 20-35 Workshop
- Teens Workshop 13-20
- Adults Workshop
- Children Workshop (under 13)
- Vascular EDS Workshop TBC

Sunday 12.15pm

Dr. Jane Simmons MCSP MACP – Managing Pain; principles and practice for EDS
Jane will be talking to us about physiotherapy and EDS and pain relieving techniques that can help with the condition.
Jane is an educator, researcher and clinician who has worked in a wide range of sport, clinical and educational settings in Australia and the UK. In 2010 Jane completed a professional doctorate entitled ‘Advancing practice in Hypermobility and Osteoporosis’. She is a clinical specialist in Ehlers-Danlos Syndrome(hypermobility type) and Hypermobility Syndrome at the Hypermobility Unit in central London. Jane is author of several book chapters and peer reviewed research articles on the hypermobility related topics and is honoured to be a medical advisor to EDS Support UK.

Sunday 2.30pm
Dr Nelly Ninis – Your child and EDS
Dr Nelly Ninis is currently a consultant in General Paediatrics at St Mary’s Hospital, Paddington. Dr Ninis, has a special interest in EDS and will be talking about EDS and your child, in both a medical and sociological aspect.

Sunday 3.30pm
r. Will Wallis PhD, MRCP – Cardiac complications in EDS Type 3 (Hypermobility)
Dr. Wallis is a Consultant Interventional Cardiologist with an interest in Ehlers-Danlos Syndrome. Dr. Wallis will be speaking at our conference about cardiac complications that can happen with EDS Type 3 Hypermobility. Dr. Wallis qualified in 1986 at St Thomas’ Hospital, London, having undertaken pre-clinical training at Pembroke College, Cambridge. He continued his training to become a Specialist Registrar in Cardiology at St Thomas’ Hospital, The Royal Brompton Hospital, The London Chest Hospital, and latterly St Bartholemew’s Hospital. He spent 2 years at UCL undertaking research into Left Ventricular Hypertrophy for his PhD, which was awarded in 1997.
Dr. Wallis is currently a consultant Interventional Cardiologist at West Herts NHS Trust and is the training lead in Cardiology at Watford General Hospital.

Medical Panel Q&A
Sunday 5.00pm

Our closing session - your chance to ask questions to our panel of medial professionals about EDS.

there you go ladies .Im thinking Sunday looks very intrewting bearing in mind Dr ninis is who proff G refers to now

linky

[http://www.eventelephant.com/edsukconference2012/pages/TicketInformation.htm]

moosemama Mon 02-Jul-12 16:57:04

Hi all Not been on for ages, caught up in ds1's disastrous statement debacle and the school and outreach team totally failing him - poor kid doesn't know which way is up and is showing lots of different physical manifestations of his anxiety. sad

Called ds2's paed's secretary last Friday after not hearing anything since his appointment two months ago. angry Turns out there was a temporary/pool secretary on when he was seen and as a result he has fallen through the cracks. She drafted a letter to physio, but then this xray results weren't tied up with his file and family history. Secretary apologised, checked and found the xray results and put the whole lot on his desk on Friday afternoon for him to look at (which of course, being Friday afternoon, he is unlikely to have done).

So, being the NHS, I'm not expecting to hear any more for a couple of weeks.

In the meantime, ds is struggling a lot. He has lots of hip pain and his ankles are giving out on him constantly.

School are still being supportive though (which is surprising given how they've been with ds1 recently). Of course I will have to go in and give all the advice again come September, as I doubt it will be passed on from year to year.

bizzey Mon 02-Jul-12 18:03:39

OMG ..THC What a fantastic up date !!! I am so tempted to have a weekend away !!...Have not taken it all in will be back once I have read it properly but wow ..thank you !!

bizzey Mon 02-Jul-12 18:09:06

SUNDAY is defo the one i might look at as well ??...Tooo much intfo at the mo !

Moose is it that the PI team not going take on or they ate crap doing ? . Yes reports take for ever . Gosh are the worse sad

Does ds1 have a statement at all

Bizzey I'm there for weekend including banquet dinner diet will be suspended that weekend grin

Going be home rather late on the Sunday night I suspect but hoping eventful weekend
Some may not be relervent to our dc though as it is for all with Eds but I agree Sunday looks good

I am also interested on the urinary incontinence speaker on Saturday, but can't afford both days so Sunday looks best, fatigue, pain management and Children with eds and the parents workshop, although could be an hour in which we could meet up properly, maybe at the parents workshop (mn hi-jack approaching)

I wonder if I might be able to catch Dr Khullar on the sunday.....

Ds sobbed last night, saying he had had enough of being in pain, and wished he had never been born. He is just so tired more than anything.

elliejjtiny Tue 03-Jul-12 13:14:58

Your poor ds sparkle sad. I had to leave DS2 at preschool today when he was howling. He was so tired but he was off all last week because he had a cold and it wiped him out so I said to his keyworker that I would pick him up half way through the session. I'm quite glad I took him though as his key worker said there is an option to get him some extra settling in sessions at school. I think I'll do that as he's really not keen at the moment.

The speakers at the conference sound really good. Definately something to take DS2 to in the future as I'm sure he would love to meet other children with EDS. It would be worth it just for that I think.

typically there are speakers on both days I'd like to hear, so am currently "in negotiations" with DH (plus trying to get a shedload of work done I'm not MNing at all here as I have a better chance of convincing him I should go to both days if I've invoiced loads wink). I'm up for a mini-MN hijack though.

Change of subject - DD was at the hospital today (follow up appointment after her gastro issues earlier in the year, signed off by gastro paed, but it seems she's still on the books of rubbish pead - who, wait for it, is the rheumy specialist for our hospital shock).. anyway... she's been convinced for a while that she's shrinking, and when they measured her today, she was 1.2 cm shorter than when she was measured at the Brompton last September. Is that something I should be mentioning to someone (GP?) or wait till Dr Ninis? And is it a EDS problem, or something else? She was definitely standing up straight today, as the nurse manhandled her a bit, and pulled her chin up, so unlikely to be a slouching thing. I might have a google later but any ideas anyone?

Yup definite meet up and your day tickets include lunch now do we need a secret handshake so know who we are . Though I'm easy to spot red hair and crashing into everything in my power chair it's my new one but not as easy to turn in small spaced blush but it is fast and has fab range grinI normally use manual indoors as more manevuable but since just me can't mange both and bag on train

Sparkle you think coming to end of term just plain worn out and yeah that sucks if it's next year were have do mini kid meet or try getting them together

Midnight

It may just be different equipment within 24 hrs Ds grew 2cm lost 1 then lost 2 and sane period lost 1kg somewhere

It may be worth calling and sorting tickets shortly not sure how Many it seats

Also worth asking if can pay in bits have split mine over 3 month s not sure I'd just having package doing that

auntevil Tue 03-Jul-12 16:58:48

Midnight - GOSH like to measure DS3 themselves at intervals, as they don't rely on other hospital measurements - as apparently their all different (wtf?!).
Last measurement he grew 0.6 cm and put on 200g - in about 9 months. How they can be that accurate I have no idea. I would have thought time of day, how the spine shrinks down during the day, how much is eaten, how much is 'passed out' all has a lot to do with it that small fluctuations are almost impossible to tell.
His next measuring session is this month. Hopefully they will see a pattern develop and be able to estimate his growth rate.

Midnight - I think it will be more of a measuring error than an actual loss in height.

THC - I am going to check with dh tonight, then book the tickets for Sunday tomorrow morning, will ask about payment in stages.

grin@ secret handshake.

I have booked to go on the Sunday 9th September. So now THC we need to decide where to meet up. grin

Woot sparkle grin what time are you arriving ?

PD teacher today who unlike his new teacher met him and she is lovely will be having wheelchair to go to swimming and 1-1 in the pool .
Touch typing lessons . Laptop for most of handwriting

New chairs for school be ordered and she will chase them . Also she is going to push to get his OT and Physio moved to people that can get into area ok pita as I'll need travel more but I prefer that

She going look for something as Ds can't turn the taps also handbars in toilet Rail for step to outdoor

Also supervision be needed in playground and 1-1 for PE

moosemama Thu 05-Jul-12 12:07:23

Well, we got the letter from the paed sooner than expected, but it's not worth much.

It says diagnosis: lax ligaments, discharge from clinic, referral to physio for assessment and help hmm

Apparently his x-rays were all normal - as expected and it appears he didn't even bother to read the family history properly, as although it mentions a family history of hip problems, he states 'mum's problems seemed to settle down over time' which, if he had bothered to read them, he would know is not true. He completely ignores the four page family history I sent that clearly points to a family history of EDS and the fact that all the adults mentioned have/had lifelong joint pain and eventually joint damage across several joints. angry

He has specifically listed lax elbows, wrists and fingers, lax ligaments throughout both feet from toes to ankles with marked inversion of both feet, particularly the right. Lax ligaments at the knees, particularly left and significantly lax hip joints.

Apparently the paed is not concerned, because ds doesn't have any problems with his skin, has no noticeable swelling on a regular basis (well he does actually, knees and ankles) and doesn't suffer from early morning stiffness, but has greater pain at night. In actually fact ds has extremely soft, very pale translucent skin with clearly visible veins. He bruises like a peach and has scarring to both eyelids caused by repeated chalazia.

He says ds has no abdominal problems, but I'm not sure what he means by that because ds has suffered from both severe constipation and impactions that required medication in the past. confused

He said he arranged the xrays as on examination ds was suffering pain across his hips ankles and knees, but as the xrays were normal the pain is secondary to lax ligaments.

So, just a physio referral and a complete blanking of my question about whether or not he/we should be investigated for EDS. <<sigh>>

What now?

bizzey Thu 05-Jul-12 14:33:53

OH moosemama...how frustrating for you sad

I am no expert in this area but could you not book another app with him for him to justify what his findings are (I know that would be another couple of months ) or try for a second opion??....have you been discharged from him ??

Possibly not relevent but when my mum was undergoing tests on her painful hip re artheritis soort of thing her doctor said "x-rays do not show up pain" or something along those lines ....so just cos his x-rays are"normal" does not mean he is not in pain ....it sounds like they have just dissmissed you ....and if it is lax ligaments is there not some other ?scan/MRI/CAT(dont know just guessing) they could do to find the extent and moiniter to see if getting beter or something ??

ohhh why cant they all follow the same guidelines !

moosemama Thu 05-Jul-12 15:01:01

He's been discharged bizzey. sad

I don't think there are any more tests really, it's all down to the individual doc and what they choose to call the symptoms. I am not happy with lax ligaments at all, at the very least I would have though the should have put JHS.

Am hoping we are lucky enough to get a clued up physio who can offer some advice, but it's a very long shot.

I'd go back to the GP, but can't see them referring him to someone for a second opinion, although I guess I should try anyway. Poor ds2 is really suffering and I can't see him screaming in pain and not push for something - not sure what I should be pushing for now really though.

Just feeling a bit defeated this week really, what with ds1's statement debacle and now this - am waiting for my next neuro appointment to come through this month as well - can't help feeling that's going to be just as much a waste of time. sad

auntevil Thu 05-Jul-12 15:01:14

sad for you moose . All I can offer is to write a letter highlighting point by point all the discrepancies between the information that you have and their response. Copy this to PALS and management of paediatrics, or whoever is senior in the department in a pen pushing position - as well as the consultant. State that you are not happy with the follow up care and ask for a second opinion.
The way I see it (and I have had to do this before) is that management don't like complaints on their desks - CEOs are used to it! PALS have a duty to find out information for you and forward your complaint to who they think is right - and check that you have had a response. The consultant will not want a complaint about their approach carried forward, so will either deal with it themselves or just pass it on for a second opinion.
If the report's pants - let them know. They may be hoping that you just accept their paltry offer and won't come back. Lets face it, its all down to £££££, not people sad

moosemama Thu 05-Jul-12 15:43:58

Thanks auntevil.

I can just picture dh's face when I tell him we are heading in for yet another fight. <<sigh>>

Moose how old is Ds if he is 13 then UCL other option sadly is private to Proffesor Graham

moosemama Fri 06-Jul-12 11:14:47

Hi THC, he's only 8.

I'm fairly sure our GP will refuse to refer to anywhere else because they'll say he's been seen and referred for physio and that's enough. So our only option would be to go private, which we can't afford.

I was thinking about it in the middle of the night last night and woke up determined to email the paed and ask why he felt a dx of BJHS/HEDS wasn't necessary when ds clearly fits the dx criteria under both Beighton (he scores 8) and Brighton scales.

Mentioned it to dh this morning and he wasn't sure whether there would be any point, as he felt, going on past experience of consultants that he would just take affront to our questioning his dx and it wouldn't change anything. Sadly, I think he may be right.

Ideally - and this might sound a little odd, I would like to get my mum to go privately to Prof G and get her dx sorted. She is 65 and has suffered her entire life from classic HEDS symptoms, she gets very depressed at how little mobility she has and of course from being in constant pain. The ortho consultant, who has known Mum for years and has done all the ops that replaced her hip and knee and straightened and shortened her toe said there is definitely something going on with her connective tissue, as she doesn't heal properly, has abnormal tissue response and tends to tear through sutures. He mused about fibro, but said he didn't know enough about it himself. She has private healthcare until January when my Dad retires, so she could, I think, get the insurance to cover Prof G's fees. Then if she gets a clear dx we can use that as leverage to get ds referred somewhere - although if I could find the money, I'd much rather take him to Prof G myself.

Since all this started I've realised how much I've struggled all my life with the similar problems to ds. I had become so used to being in pain that I no longer complain or bother about it, it's just a baseline norm for me and I'd forgotten what it feels like to have a pain free day. I'm not in agony or anything, but do suffer with hand, finger, knee, hip, ankle and foot pain on a daily basis and am what you could describe as crunchy and poppy with all the clicks, pops and cracks I get from just moving around normally. I had just become so used to it that I didn't realise it wasn't normal, iyswim. It was only when I started writing the family history (that the paed either didn't read or dismissed out of hand [angry) that I realised it was so glaring obvious from my own medical history.

I'm not bothered about a dx for myself, but I don't want ds growing up with no help to manage his condition and want him to learn how to manage it to try and prevent early wear and tear on his joints. In short, I don't want him to end up like my mother and I. sad

I think I'm going to have to talk it over with dh this weekend, as, as usual, he is giving me the hmm face and doesn't want to rock the boat and I can't push without his support, what with everything else we have going on at the moment.

I know it will be me that ends up doing it all in the end and along the way I'll gather more 'anxious mother' type comments on my dcs medical notes - I get so blooming fed up of no-one ever listening or taking us seriously. It was the same with ds1's ASD dx and even though it turns out I was right, there are those who still treat me as if I am a neurotic mother. angry. Same with ds1's statement, everyone telling me I was asking for things he clearly didn't need, until he lost it to do with transition this year and his outreach teacher and Ed Psych finally agreed that I was right about what I wanted quantified in his statement - not that they will put that in black and white to support my appeal mind you, both being employed by the LEA. hmm Honestly, the arrogance of some so-called professionals never ceases to amaze - and infuriate - me. angry sad

Sorry for the rant. blush

Moose for me Gosh was a Disaster

I would re comes Proff G before he retires next year and since your mum has insurance would reccomend it he has whole clinic there physios etc

Private 1 hour is £300 sad

The other option is Dr ninis

Report is here and everything he said in clinic is in the letter EDS 6b confirmed which puts him around only 200 in the uk

9:9 Beighton scale and pots very suspected hopefully dr will reger

Ok 9:9 Beighton scale . Outside the scale his shoulders ,cervical and thorasic spine ,hips fingers and toes were all extremely hypermobile

He has scoliosis skin soft and increased stretc scar was sucken below surface

bizzey Fri 06-Jul-12 20:24:01

Moose...It wasn't rant ...It was ketting things off your chest smile !

I think going private via your mums insurace would be goo if she is happy with it ..you have nothing to lose...and it would be a shame to "waste"private health care !

Maybe then if you get the dx you could then go down the genetics route and get more help .

I have not got my app yet ...but when i chased it up with the secratary she said my pead was slow but through ....not good wheni am so impatient !!!

Have faith...you got your ds1 statement...this dosen't need to be the end for this ds..

He wants him see urgent as he feels he has pots ad refer to Dr ninis . Just got to wait of GP does

bizzey Fri 06-Jul-12 20:26:54

Ketting !!???? "k" isn't even near "g" on the keyboard !!!!grin

moosemama Fri 06-Jul-12 20:50:52

Thanks for the advice THC and the heads up about Prof G retiring next year.

Good news - iyswim about your ds's report being in. Is 6b kyphoscoliotic? Having got the reports, do you still have to go back to your GP for referal for further treatment and support?

Bizzey, thank you. smile I can't go private myself unfortunately, but I thought if Mum could get a dx, it might add some weight to getting something done by someone about getting ds properly dxd.

I did indeed get ds1 a statement, unfortunately it's woolier than a sheep's backside and the LEA not only refused flat out to quantify and specify, they are playing games and refusing to communicate with us at all - to the extent of refusing to finalise so we can appeal. angry They are now on a deadline for which they have two days left, by which time if they don't finalise we are going to our MP, Councillor and taking legal action against them. Really don't need this mid MS relapse though. sad

Hope your appointment comes through soon.

Moosemama it is but if that type not rate enough he's took it step further 6b is rarer as the urine test is normal but everything else is not akward little bugged

Yeah Proffesor G asking him to reger to St Marys urgently

Moose if you need any help feel free to yell but yep they like to play games in waiting in Ds 3 proposed statement following AR and then were bounce it back few times but there cave eventually

moosemama Fri 06-Jul-12 21:32:49

Gosh, so he has an EDS type that's even rarer than 6 then. Our dcs never make it easy for us or the docs really do they.

Thanks for the offer re statement help. Things went fairly smoothly right up until we wanted them to amend the statement into something at least worth the paper it's written on. hmm We actually haven't had any contact or response from them since the second week in April! Fortunately we have been told we should qualify for a legal case worker from one of the SEN charities due to my current health problems, so that makes the tribunal slightly less scary. Well if we ever get a finalised statement to appeal against that is.

Problem is, it's ds1's secondary transition year next year, so we need to get this sorted asap.

elliejjtiny Fri 06-Jul-12 22:40:38

So sorry that you are being treated like this moose. I think there is a special neurotic mother sticker that some of these proffesionals like to stick on our dc's notes.

DS2 has EDS 3 twice some professionals think as both me and DH have it and DS2 has it much worse than DS1 and DS3 so he probably got lumbered with both lots of EDS genes.

Does anyones DC's go to a mainstream school with a PD unit. Just wondering as my sister has just got a job in one and I'm thinking maybe she'll be teaching one of your DC's (school is about 1 hour away from london). If she is I will give her a crash course on EDS and how the parents are always right grin.

Ellie no but interested which side of London ? .ds3 is of to S&l unit base afternoon in ms

But if does not work the PD teacher is suggesting that we then look at school for PD . But if there a base near by may be an option

auntevil Sat 07-Jul-12 16:38:00

The DS's school currently has a disability base, but that goes next term. It was part of the reason that it suited DS1 so well and I swapped him from a non base school. He gets OT and physio input without a statement.
Next term should be interesting

elliejjtiny Sat 07-Jul-12 23:11:18

THC it's north of london, beds, bucks, herts area. If you want more details I will pm you. DS2's school has 2 other children who are wheelchair users which will be good for him I think.

auntevil Sun 08-Jul-12 14:11:29

Ours is South - but it is refreshing to have 'parking spaces' for children's frames and wheelchairs, which are observed by all the other children, unlike disabled car spaces!

Corster7 Sun 08-Jul-12 16:09:34

www.mumsnet.com/Talk/special_needs/1512882-bendy

Hi I have already written about some of my sons problems (above link).
Was wondering if anybody could have a look and advise thanks.

Ellie I'm in Herts Ds current school is north Herts so defintley interested

Were coming up to ds3 transiston day day at the new school on Tuesday ANC think teachers in for a shock as they never met ds3 before only read report

And seem think he is just a bit bendy

Corster

Physio may look at Ds and use the Beighton scale to see how bendy Ds Is only thing with that it does not look at all joints

Ot may suggest some finger excersicse and Physio may come up with program if Ds will comply sorry don't know how his autism affects Ds

Later on computers may be used but not normally till juniors .itsy be worth asking for referal to a paed with Paticular intrest in hypermobility or a rheumo though often they tend to wait a while

Corster7 Sun 08-Jul-12 19:12:49

Thanks for replying, most of his joints are bendy, his elbows, knees, ankles, all fingers and thumbs.
His knees are an odd shape (don't know if that has any bearing).
Also he walks slanted (one shoulder is up one down) and like mr soft bless him.
He has always tip toed walked and was even in plaster casts for 6 weeks which made no difference.

Yes it can be caused by over extensio

Is the tip toe walking related to his autism or have they looked to see if the tendons are long enough at the back if there to short guess always option of Botox and serial casting

Corster7 Sun 08-Jul-12 22:11:15

He had serial casting last year and did not work, they think it's a combo of his autism and the hypotonia, they did say last year that his ankles are very supple considering his tip toe walking.

Moose - I am so sorry you have had this response. I appreciate that you don't want to have to fight for dx, and it isn't fair, but I fear that is all you are left with. I think either Auntevil's or Bizzey's advice (can't remember which or both, sorry) is right. Your first thing to do is to write to Consultant, copied to GP, PALS and Head of Paed/or PCT. Explain you issues, lack of note taken with family history, fact with eds/bjhs you would expect all xrays to be normal (for god sake that is the point hmm), although appreciate physio and pain relief are the only solutions" at this point having a proper dx, which will support him in school and properly inform a physio, and give you a management plan.....then say if the pct feels that it does not have the skills base to definitvely dx whether it is eds or bjhs then a tertairy referral to GOSH hypermobility clinic is essential.

I know clinic at GOSH has been rubbish for THC - but this is supposed to be what they do, assist dx of EDS 3, and it might work for moose junior......... hopeful emoticon needed.

Corster - Hello. Sorry your ds is having problems. A good physio will be able to help with lots of the issues you have described - gait, improving core strength, although it sounds like the tiptoe walking is more complicated. Do you see a paed for support with the autism, because it would be worth discussing and seeing if you need a referral to a consultant with experience of hypermobility.

THC - I shall get to the conference in plenty of time for first session on the Sunday, will go and check what time it starts. Will just set off from home very early, will be a couple of hours drive I think.

moosemama Mon 09-Jul-12 12:54:51

Thanks Sparkle.

Dh and I are considering our next move at the moment. Mum has asked me to email Prof G's details to her so she can get a private appointment arranged for herself and maybe ask his advice about ds2 at the same time, so that's something.

On a more positive note, we spoke to the LEA about ds1's statement this morning and apparently they finalised it on Friday, so at least something is moving forwards.

Just be aware gosh do not recognise gut issues linked to EDS or infact EDS they ignored dx and their letters all say hypermobile rather than eds

auntevil Mon 09-Jul-12 16:31:45

THC do GOSH recognise a link between hypermobility and gut issues? Quite hoping that your answer is going to be yes (another hopeful emoticon required here!)

Everything I read about GOSH on here makes me even more infuriated with the medical profession! hmm

Had a meeting at school today which was with the clinical psyc and head, TA and class teacher, as to how best to support ds's emotional needs stemming from eds. It was very beneficial, and the head was very proactive and as beautifully guided by the clinical psyc, she now has gone away to develop different recording strategies for the upper end of the school and ways of encouraging ds to use a computer and see it as a positive thing. Feel like we have a plan for the next year.

Aunt in one word no

Infact a comment was made about that gut issues are in their head . This was to someone who has actually had all the tests on their child and child is peg fed

That sounds like a good meeting sparkle so different from his last school

Well report faxed to The PD team just so gives them a bigger stick

Cat amongst pigeons as I given his OT and Physio copy of Proffesor G report which picks up things they missed including a 25% scolisis I kept saying and they said no it doesn't happen in young kids ignoring his EDS type it does !!they never even examined or looked also fact they mused the hypermobility in his spine at cervical and thoracic levels

Meeting new school head tomorrow that be intresting

Good luck for tomorrow then THC. They said scolosis doesn't happen in young children....or did I misunderstand...cos scoliosis is really common in many types of eds!

elliejjtiny Tue 10-Jul-12 14:22:58

Good luck at the meeting today THC.

Glad your meeting was positive sparkle

(((hugs))) moose. I hope your mum's appointment is positive and that the statement has the right support on it.

We have good news and bad news here. Bad news is that after the OT came into school and measured up for the hand rails, steps etc she has dissappeared off the face of the earth. The SENCO told me yesterday that she is trying to get hold of her as she needs the paperwork by the end of next week or the alterations won't be done in time for september. The senco is also cross with the lady from the pims (PD or FA for those not in somerset) team because she came into school months ago and told the senco that DS2 wasn't that bad.

Good news is that after talking to DS2 and me the senco has realised that DS2 is that bad after all and she is thinking very seriously about applying for extra funding for him. This is a huge step forward as previously various professionals have been saying he won't need that and he'll be fine etc so now I'm doing my "mum is right again" dance although still wishing that I wasn't right and that he would be fine. I feel a lot happier about him starting school now, before I felt like I was going to have to throw him in a river and hope he swam.

Ellie - Good to hear the senco is listening...that can only help. I am a bit hmm at your pims lady being so unhelpful. She doesn't really have a leg to stand on if the senco, parents and OT are making recommendations......sorry school are having problems getting hold of OT, why don't you try contacting her directly...it may be a scheduling issue with when senco gets release time to make phones calls.

How did you get on THC?

auntevil Tue 10-Jul-12 18:55:21

Had an appointment with consultant paediatric gastro today - at our hospital - although I know he is highly regarded in the south east - and I treble checked that hypermobility and gut issues such as IBS were related. He said a definitive yes. Bad news is he is letting GOSH run with DS3's eating/soiling/food intolerance/ IBS issues. I do have a get out clause if I need to see him again though, so not too worried.
Also had OT with DS1 today - and I asked her to have a quick look at DS2 and 3 re hypermobility, as they have no dx. She said that obv they would need the right professional to dx, but in her opinion they all were. All have dx IBS as well. Is that just a coincidence GOSH? - I think not! biscuit

Auntevil - is the consultant going to write to GOSH to confirm his dx, it makes it harder for them to ignore if he does. Good result for you with the consultant though, so well done, and if GOSH don't help then you can go back to him. Where are you going to go to get a dx for your other dc?

Aunt /sparkle just be very careful re gastro and hypermobility EDS with Gosh there's been so
E rather unpleasant happenings there

??? I know they refused to acknolwedge a link between eds and gastro for someone recently.....has there been something else. I am so angry about this so called specialist unit!

The important bit is that he confirms it in writing to you

Absolutely, that is the bit of paper you need!

auntevil Wed 11-Jul-12 16:15:37

Is this from the EDS team or from the gastro team? DS3 is seen with gastric problems rather than hypermobility problems. From what I've seen and heard about GOSH lots depend on how you're routed through the system.
I'm going to go back to the GP and ask for a new referral for hypermobility - as their general paed who we were referred to with gastric issues does not agree that they are linked. I might ask for a physio referral - and then take the results to their next meeting as they are on 6 monthly obs appointments.
Problem is that if i go back through her, she doesn't see a link anyway. Might be better seeing if the GP knows a better paed to refer to than her (their general paed). Why is every thing so political and overly complicated?

in some ways it's easier how I'm doing things - co-ordinating it myself without paed input, and telling the GP who to refer to wink.

Hopefully those of us seeing Dr N (me, THC, anyone else?) can establish if she is an EDS person, or just a PoTS person. Might be worth someone trying to collar her at the conference, as if she is EDS, that might be a way of bypassing any potential unhelpfulness at GOSH for under 13s.

I think THC ds is seeing her for EDS, and she is certainly speaking about eds at the conference rather than specifically POTs. Auntevil both THC and I meant getting a letter from the gastro team, to wave at the eds team. I would go back to the gp, armed with gastro dx, download of links with eds and gastro and general hypermobility links and ask for a referral not to a paed (they might not like taking a second opinion within the same paed team) but either to a local rheumatologist or ask for Dr Ninis (sp?) specifically.

Tell me my friends......when will I be able to afford a housekeeper/nanny to take on feeding the children and putting them to bed, so I can relax with a wine.....will I have to wait much longer?

auntevil Wed 11-Jul-12 17:25:01

You could have a point re taking the referral 'out of house (pct!). The GP is really good/bad grin sad Good in that they are really efficient and co-operative with referrals, bad as in they follow NICE guidelines and PCT guidelines to the letter.
I'm going to book an afternoon (yes, the whole afternoon) with the GP at our surgery who specialises in paediatrics, and sit and go through all their ailments. Get all their repeat prescriptions all set up on the computer system, deal with all niggles and referrals, and get it done in one go for all 3.
I had 4 paed appointments yesterday - it gets silly. I have 2 next week that clash - and knowing that if you ask to re-schedule it can be months away - DH is working from home taking the day off to cover 1 while I do the other.

It gets crazy doesn't it, and I only have ds with eds, my girls seem fine!

Sparkle dd seemed fine bar handwriting and clucky but her seems be stepping with her knees

Ds2 has the gastro issues sad

She is about the age I started noticing it with my ankles!

Apart from the weight gain and a few intolerances, thankfully ds seems fine gastro wise. Long may that continue, he has enough going on.

How is ds2 and ds1 getting on THC?

Ds1 is working over the summer , Ds two just can't get weight on he has lost 3kilos despite calories going in so be intresting review end of the month

Yeah I was about 12 when I started bit did note dd goes over to more than ds3 and is flat footed but not causing any issued

Lets hope she is not too badly affected. Hope the flat footed continues to not cause issues, my ds's feet cause him so much pain these days.

ReindeerBollocks Wed 11-Jul-12 21:43:54

I've not been on these threads in a while (had a holiday and took some time out which was great). Things seemed to get better for DS while on holiday.

Then we came home from holiday with a bang. Got his OT appointment in August, he has been confirmed last week with type one diabetes and the school report we got says that his handwriting is appaulling ( tell me something I don't know) but also he struggles with maths and PE. Looking like a dyspraxia diagnosis. Health wise he has a cold, his health was poor before we went away and they were concerned as he had partially blocked airways in his lungs causing minor lung collapses in several areas of his lung. But all in all we are looking forward to his holidays and planning his first birthday party ( he is eight but hasn't ever really done parties before).

Am off to read back this thread and catch up on everyone, hope THC got some help for her DS(2?) and Ellie got the wheelchair she needed for her DS.

ReindeerBollocks Wed 11-Jul-12 22:08:07

Have read back through the thread - wow, it's been a busy time for some of you. I have a question - what's POTS?

I'm finding the correlation between weight and EDS interesting, as it seems to be a big factor for most of our EDS dx'd DC's but only certain doctors will pick up on it. Major factor for me, as I'm struggling with the dx of diabetes,

Also I'm curious as to how many of you have statements? I spoke to our school last week due to the dx of diabetes, and they said that basically they want me to find funding for them to be able to keep him in mainstream school. They said his care needs are too great, yet admitted that he wouldn't be a candidate for a SN school. I want to wait for the OT report, as what she suggests will cover his educational needs, and then I can cover his medical needs side of it.

Also, does anyone use heat based pads for their DC's? Despite me asking the school not to push DS during PE (he had a week of sports last week) he came home every night complaining of sore legs. Really painful. I gave calpol and massaged and used heat pads. Seemed to make a small difference. School think I'm being overprotective, but then they don't really know about hypermobility or pain (or CF or diabetes). At least they picked up his writing/maths issues so all is not lost.

I hope those who are going to the meetings get to meet up and get some useful information. Have fun too of course.

Reindeer

Ds should be able get statement without to much issued due to medical needs you can apply or school can . Better if you do ad you can appeal

But point school towards exceptional needs funding while sorting out a statement .but medical grounds they have to meet anyway maybe got your community nurse to talk to them

Ds3 does have a statement as he also has sever S&l problems alongside hid PD so in a unit and your can't get without statement . But as time gone on his statement gets more added to it

PoTs is Postural Tachycardia Syndrome - blood pools in your feet and legs (possiby because of stretchy veins), blood pressure drops, heart rate rises, you faint, is the basic explanation.

It's common in EDS, but hardly anyone has heard of it, even though to diagnose it is really simple and straightforward - take BP lying down, take BP standing up, if it rises by more than 30bpm (adults) 40 bpm (children) then it's PoTS. And you don't always faint with it - there are soeme case studies on the STARS website where people have fainted once or twice ever, and just feel really really rubbish (dizzy, generally feeling ill).

No-one in the UK specialises in DC with PoTS as far as I've been able to find out, which is why we're pinning our hopes on Dr Ninis at St Marys. Once you're over 18 there are several clinics and doctors, but younger than that and you're a bit stuck.

Yup lot of places only just realising that young kids can suffer

Has anyone got appointment yet with Dr ninis?

We see her on 29th August, clinics are twice a month and she's away this month, so that was the earliest clinic with spaces when I spoke to her secretary.

Ah ok so I suspect were be September/October think referal only going of this week

On positive side she has advance warning as Proffesor Grahame with my permission passed on all his findings and report in writing plus was going to chat with her

elliejjtiny Fri 13-Jul-12 13:02:19

DS2's wheelchair was delivered this morning grin. He has been practising self propelling today and he is already better at it than he is at walking. And faster too, I'll have to get my running shoes on!

THC someone on an EDS facebook group told me that a lot of people with EDS start with symptoms when they start puberty. I started showing symptoms when I was about 11 although the GP said it was growing pains.

Does anyone know the best way of getting an official diagnosis of EDS for a 4 year old. The school senco has said it will be easier to get the extra funding for him with a diagnosis but the paed is reluctant to diagnose when he is so young and has other symptoms that don't quite match up with EDS. I have a letter from the neuro which says he has EDS type 4 (hypermobility type) but as he's got the number wrong (I spent ages arguing with him about whether type 3 or type 4 was the hypermobility one but he was adamant that it was type 4) I can't see that being much use.

Still no word from the OT. Thanks whoever suggested to ring her myself, I didn't think of doing that [dozey emoticon]. She's not in the office today so I will try again on monday.

Hi all, just found this thread (thanks midnight grin), I am off to see Prof G on Tuesday and am wondering what to expect. I was told I had HMS by a physio three years ago but I've only recently started having more and more problems. I'm hoping against hope that my DD doesn't follow me into this, she is very hypermobile but hasn't had any problems so far (apart from having to wear orthotics).

Hmm when Ds saw him he dis full examination of every joint checked for scolisis . Carried out some basic pots testing but this may been due to ds3 collapsing previously and demonstration bang on queue in clinic

He also asked lots of questions and asked what I was looking for . He is a real nice guy am impressed with him

Madsometimes Sat 14-Jul-12 18:31:05

I'm also here from the adult support thread, and have a question about my dd. She, and I, have marfan syndrome. My Marfan specialist has suggested that dd would be a suitable candidate for a drug trial. Having read the trial criteria, I am happy with its safety, and would gladly take part in it myself, but I do not fit the entry criteria, (aged between 6-40, and no previous cardiac surgery).

Obviously, I'm hesitating a lot more, because it's my dd, and she's 11, so at an age where she's very conscious of her body. I always try to ensure that she doesn't feel different and never wrap her up in cotton wool. I have never prevented her from doing something that she wants to, and so she participates in Scouts and sports as normal.

The trial is using an established drug, which is why children are being recruited. Dd has a history of wheezing, although she is not asthmatic. Atenolol, a betablocker, is currently the medication of choice in marfan, but it is contraindicated for wheezing, wheras the new trial medication is safe to use. The trial is a double blind randomised between placebo and irbesartan, so she may well not get the medication, but will get a yearly echo, which she does anyway.

For her to take part, she would need to be genetically screened, which is something that I have not consented to so far, although as my mutation has already been sequenced, a saliva sample should be enough. She has a fear of needles, and isn't too keen on doctors. I have hesitated because I have always felt that her DNA is hers and not mine.

So, am I crazy to consider enroling a child in a drug trial, and have any of you parents allowed your child's DNA to be sequenced?

ReindeerBollocks Sat 14-Jul-12 19:54:19

THC- thank you, you knowledgeable thing. Am going to apply for the extra funding. Did speak to the diabetes community nurse, but she felt that as they are holding off insulin at the moment, that she didn't want to push for funding. However with his other medical issues I think I'm going to apply for the the interim funding and then see what recommendations the OT brings. Good luck with your referral to Dr N, hope it's sooner than later, it's shocking the way GOSH treated you and your DS.

Ellie - glad to hear DS likes his new wheels. Hope it helps him. We waiting six months for our referral to OT, any chance you could get the consultant to speed it up by writing a letter? It took me ages to chase up ours, and the school were helping and have been supportive.

Mad - my circs are slightly different but we have taken part in a few trials, these have been mainly psychological but we did put DS forward for a medical trial for a different medical condition, which was DNA sequenced based. Unfortunately, DS wasn't well enough to take part once the actual trials started. At 11 the medical profession would be asking her opinion on her health and whether or not she wanted to take part (well I know they would WRT DS and his treatments). Maybe broach the subject with her and see what she says before taking it further.

Mad

Ds3 Is in a trial now not using the standard microarray he is on the next generation sequencing which is only available through trials bot on Nhs yet as to expensive then by default samples from all of us

Ironic by time available on nhs it bd out of date.

Yes it may feel odd but I honestly feel that it means can make informed choices when older . Sometimes knowing is better than not

Did discuss with ds1 and ds2 as there both older but only you know how mature dd is

Dd is also on trial through the Brompton and we seen improvements

Reindeer also talk to school nurse . Exceptional needs finding needs be applied for by the school

But I would statement yourself once were out of here )UCL ) will find link for letter template

Had fan day at zoo yesterday ds3 walked at his pace lots of rest stops etc but after we went into macdonalds round corner from UCL he was stood to me in queue next thing he just dropped to the floor completldg out of it
Scaring me ANC the staff and others in the restaurant have to say everyone was really goof

999 called but they ran over instead as literally across road from side door and ambulance take far to long .They gave homn done 02 and picked him ip and ran back to hospital telling me to meet them their straight into resus where he was still conked White as a sheet with heart raccing

3 hrs in resus with lots worried Drs , 5 hrs later he was bright as a button but they won't let us go till mon morning at least and are going to see since Proff G around ask for advice

And I have never shot across a London road with so little disregard for traffic

Madsometimes Sun 15-Jul-12 10:00:40

HC and RB - Thanks for replying to my post. I certainly will need to get dd to consent for taking part in the trial, plus dh and her paediatric cardiologist. She's nearly 12, so I imagine that the trial coordinators would expect it. It was actually my doctor that has suggested it, not hers.

HC - sorry to hear that your ds3 collapsed yesterday, and you're both stuck in hospital. Glad he's perked up now smile.

Sitting in a travelodge in Bath with DD1 for her appointment tommorow at the RNHRD. Will do a hospital review afterwards!
Hopefully we'll leave with some pain management treatment and a referral for physio...

Ellie am afraid not most won't dx EDS before 5 as there's a degree of laxity in all dc to then not even Proff G or Proffesor Pope see before the age of 5 we was just stuck with the hypermobility level /gdd label till then

Stupid pard not knowing difference between 3/4 there's s big range of difference in them

Good luck with appointment tomorrow . My friends son with EDS is seen at Bath and she seems to like them

elliejjtiny Mon 16-Jul-12 11:07:22

reindeer We have already seen the OT and she has said what needs to be done at school but the school won't do it unless they have it in writing and they can't get hold of the OT. In answer to your previous question DS2 hasn't got a statement as such but the senco is going to apply for "extra funding" which is the same thing in our LEA. I think it's meant to make them or the school sound better if they only call it a statement for the children with learning disabilities hmm.

THC. That must have been so scary. Glad your DS is feeling better. I had a feeling DS2 was too young for a diagnosis. The paed at our local hospital thinks he doesn't quite fit in with EDS but I think that's mainly because there aren't many people who display symptoms from before birth. He seems very similar to other young children who have EDS to me.

Ellie which LEA are you In Birmjbgham way by any chance and sorry to pop your ballon the extra funding is not legal there be no entitlement to any help
I would suggest you apply for statement yourself . This is the only legal binding document

Ellie yup ds3 issues were there from birth and truth I did not think he get label of EDS or did out then community paed she only refered I think to keep me quiet ( I did enjoy copying her into the letter )

elliejjtiny Mon 16-Jul-12 16:58:39

No we're in somerset. I'm still trying to get my head round the education system here. Thanks for telling me about the funding, I think applying for a statement is going to be the way to go.

I've noticed from being part of various forums that children who have symptoms from very young tend to have development delay and hypotonia as well but some of the proffessionals who DS2 sees say that he can't have EDS because he also has hypotonia and development delay. The rest of his professionalls think he has EDS and some other unidentified condition that causes hypotonia and development delay. [bangs head against a brick wall].

RNHRD in Bath
Lovely old building, a bit run down inside, a bit disorganised, but lovely staff, very helpful. Didn't feel much like a hospital, more like a local council offices converted out of an old house. DD1 ( who gets very stressed at the idea of hospitals) liked it, said it wasn't scary.
Saw a Dr Jenkinson was was also very nice and approachable, very thorough and not jumping to conclusions re a diagnosis (Dd was referred because of joint pain and DD2s EDS diagnosis). He's an adult rheumy though so not one to add to the list for DC.
DD had an initial consultation and examination (prob 30 mins or so), then bloods taken and X-rays done, then we saw him again to discuss X-rays, and what to do re pain till blood results are back and she has a follow up appt. all in all we were there for 90 mins
Dr J knows his stuff, although not an EDS specialist. He's diagnosed DD with JHS rather than EDS, but as that makes no practical difference, I'm not fussed. Assuming there's nothing else in her blood tests ( there's the possibility of other rheumy stuff which we knew about) then he'll send her up to the physio people at the hospital to see what they can do to help.
Dr J has a lot to do with Sports Medicine at the uni (they have a fab sports centre there - we saw some of the Chinese Olympic people today - coaches rather than athletes judging by age wink), so was quite proactive re the activities she does. He did the same "aha!" that Prof G did when we mentioned ballet, so that must be on the EDS diagnostic training manual wink.
All in all it was a very reassuring day for DD, and I'll add Dr J and the RNHRD in Bath to my list of Doctors And Hospitals Who Know What They Are Doing.
Not sure where DC go in the Bath area, but for adults, it seems OK

Midnight - thanks for the update....hypermobility freindly places are always good to know about!

Reindeer - my ds has one to one funding from the pct for his eds alone. It is reviewed annually, but they have basically promised it until he leaves primary school. I got it by contacting the sn assessment team at the LA, originally to discuss a statement. Ds doesn't actually have a statement, but he still gets support from pdss (physical disbailities support service) and the pct funding. It was granted because of the need to have someone with some paed frist aid training to deal with his cervical dislocations, to medicate him to manage pain, to reduce no of hospitalisations (we had 11 in 12 months in the year we applied), to reduce school absence, and to do physio and gross motor skills and support writing. They were taklling about doing matched funding from la and pct, but in the end the pct picked up the bill.
We use heat pads and wheatie bag for ds, it helps reduce muscle spasms, but that is all it does really.

My ds was dx by prof g when he was very young, but this is very unusual, and I already had a dx of eds myself. Prof G was absolutely right though in identifying ds' weak joints, every one he picked out has proven to be a problem. hmm angry at neuro getting wrong type....another example of an consulatnt who won't listen to parents.

oopslateagain - welcome to the thread. I have seen prof G a few times for me and once for my ds, he was very thorough, very understanding and supportive. I had blood tests, xrays, family history taken and filled out a questionnaire with him, as well as physical examination. Nothing to worry about, he knows what he is doing.

Mad - Hi welcome to the thread. Deepbreath is around somewhere, she is our resident marfans expert! I am not very knowledgeable about marfans specifically. However I have done a drugs trial myself for my asthma which is eds related, and didn't find it too onerous. Such a tricky one though, cos someone has to be the control subject and therefore have nothing....sorry am not being much help.

THC - OMG is he still all right now? Has he been discharged? Poor little guy, and poor you, haring across london streets....very very scary.

Ellie

Your pretty much describing my ds3 to . They still think there's something else on top of the EDS . Hence the DDD study . If need hand just yell about statement stuff

But he defintley has EDS

Sparkle Ds school so much better than the last

And yup were home but Ds in August will need to wear portable heart monitor for 24 hrs as seems he has iregular heartbeat and want to see just how iregular .

And on good news side the referal to Dr ninis has been done by the GP he agreed that needs looking at and is impressed with Proff zg report so just need wait hear from her

Midnight glad appointment went well

thc - have PMed you.

ellie - I'd say push for a statement as much as you can - at least that way there ought to be funding ring fenced, rather than relying on an individual school to find spare in theri budget.

elliejjtiny Wed 18-Jul-12 10:24:33

THC maybe we have discovered a new type of EDS, congenital type. [adds medical discovery to CV]. SENCO is in school tomorrow so will go in and nag her about a statement. She has said before that if DS2 gets extra funding they won't use it for a TA as with all the TA's for the children who need full time 1 to 1 plus the class TA and the parent helpers it's going to be quite crowded in the class so DS2's money if he gets it will be spent on "resources" for him. Not sure what though as all the ramps, grab rails, toiletting stuff and chairs are (hopefully) going to be sorted by the OT.

yup she could mean books etc but its tough if he needs 1-1 then can mange .When ds was in ms there was teacher ,class Ts and 3 TA for other kids that needed them

which is why you need statement to make sire he gets OT program etc
ellie here is a template

www.ipsea.org.uk/Apps/Content/html/?fid=89

redwhiteandblueeyedsusan Thu 19-Jul-12 11:25:37

<gatecrashes>

I am off to see the head today re dd's hypermobility. oh yippidy doo. they removed her iep and had a review in feb without involving parents so I am a little annoyed.

wondering how bad the hypermobility has to be to get help. I will be reading back.

auntevil Thu 19-Jul-12 17:34:48

Just catching up with last few pages grin
DS3 has been referred back from GOSH to local hospital as his eating difficulties are purely physical and need monitoring and they're not looking for any other causes.
DS1 has been having sensory integration and they have informed me that DS1 still has no hand dominance. Anyone else's DC finding this?
Also had DS3s teacher speaking to me today re 'I've been noticing that...." which also sounds a bit like DS1s dyspraxia - or could there be a link to hypermobility?

Auntevil - my ds does not have dyspraxia but his hypermobility gives him physical difficulties which are shared with dyspraxia.....having said that there are others on here who have discussed direct links with dyspraxia. My understanding is if they have the learning side of dyspraxia as well as the physical side then it is dsypraxia, if like my ds it is just the physical side then it is eds/hypermobility. Is that right everyone confused

THC - I am so glad you are home. The 24 heart monitor sounds like a good idea, hopefully it will help you to get a better picture. (hopeful emoticon needed)

redwhiteandblue - welcome to the thread...you don't have to attempt to read back over our inane drivel (well that refers to my comment wink) to find the to good bits, of which there are many....we can all do a little update about where we are/experiences if you like, or just launch in and ask questions the poster on here are a fountain of knowledge.....some are even discovering new branches of medicine aren't they ellie wink

We are in boom and bust here.....ds pushed himself so hard at residential , he is now cripple with shoulder and neck pain and the veins in his feet have collapsed again......hmm what did that rheumatologist try to say it was chilblains....now I know we have had a bad summer but really hmm

actually more angry than hmm

Hi red White blue
Gatecrash away

It may be worth seeing if school will get the PD team involved for advice or asking pgysio to refer to them .

It varies on what's available in school how dies it affects dd ? Maybe be worth having a think what you want in way of help so have clear idea

As for iep meeting tell them you have not signed the iep of si not relervent to have cancelled it. How is dd coping in class is she struggling to keep up ?

Run down I have 4dc , ds1 hypermobile and handwriting was a pita but no real issues . Ds 2 hypermobile but no joint issues bar handwriting , dd has eds 3 ahich affects handwriting abd her knee caos starting to go just got regered ti Ot
Then we have ds3 who has EDS 6 he has major issues affecting fine and gross skills . He has had a statement since age 4 had 1/1 in mainstream then moved to speech unit as has verbal Abd oral dyspraxia to so 10 in unit and 1 teacher ,one TA one therapist and Seperate playground so is safe from physical knocks , like Ellie Ds mine also has delay and possible chromosome issues going on
Swimming /PE he needs 1-1 or 1-2 needs help changing etc uses wheelchair for distance
So needs quite bit of help and luckily it's all tied into his statement .

Aunt

Yes Gosh not interested as ds3 eating is a physical issue between his affecting his jaw and his oral dyspraxia affecting the muscles in his mouth .

Sparkle
Arghh for chilblains glad he enjoyed residential but hate the fact they pay such a high price for it Has Ds finished school for summer so can have time to recover ? .oh I did ask Proffesor G and raynuads is common in EDS as the veins are stretchy to

ariane5 Fri 20-Jul-12 10:32:18

Hello, just had a very quick catch up!

hope everybody ok.

We have had really busy few months, nobody has been very well at all with various things, dd1-pain, fatigue problems with POTS.ds same as usual, painful legs,dislocations.dd2 AWFUL problems with stomach/bowel and has either a hernia or some sort of lump above belly button causing her a lot of pain.

ds2 doing ok, can already tell he has eds though he has really clicky ankles and back and 'feels' like he has when handling him.

Still struggling with dd1 dla appeal, despite letters from school, consultant and physio they are still saying no. i did a weeks symptom/pain/help needed etc diary which they seem to have ignored.she got dla no problem for 6 years and nothing has changed but suddenly they are saying she is "no different to any other child her age and does not need any more help,guidance or supervision than any other child her age" and even decided that she is apparently "capable of being unsupervised as she can request help if needed" what?? dd1 is 10 and I cant even let her have a bath unsupervised due to dizziness/fainting or if she slips and dislocates.they are going on that she does not need extra guidance etc when out as well but she does as cannot walk far etc.

Feels like im banging my head against a brick wall they will not accept anything I say sad

Oh arians sound like got your hands full and yup I'm dreading the DLA renewal next year suspect were loose it

Who is Dd under for the pots ? any chance of gastro referal for dd2

am LOLing here - DD1 letter from the doctor in Bath says "no family history of Joint Hypermobility Syndrome". Hmm yes, so what about DD2s EDS - hypermobility then? The one that's identical to JHS? Ho hum, not that it matters really, as he's going to refer for physio in any case, but that's marked him down a bit on my List of Doctors Who Know What They Are Talking About™ wink.

Ariane - I thought DD2 at 14 was considered incredibly young to have PoTS, it must be hard for your DD to deal with at 10. Who is she seeing for that? Can some of the disability charities help with the DLA claim? Or what about the STARS people, they might be able to help with whatever the new "trigger" words might be?

ariane5 Fri 20-Jul-12 14:27:58

dd1 was couple of weeks off her 8th birthday the first time she had a pots episode and fainted but it was only a few months ago we got a definite diagnosis before that we were told she suffered from 'intermittent tachycardia'.She gets dizzy quite a bit and things like getting up too quick trigger it and also having a bath too warm really affects her. At the moment we are struggling a bit-between all the dcs and the fact i (still) cant drive we are pretty much housebound as none of the dcs for various reasons can manage getting out and about, dd1s taxicard even got taken due to dla being stopped so only have ds1 now to get around if we have to-AND they decided to halve his number of yearly trips.We had got a blue badge for him (dh drives and we use it at weekends) but apparently because we have the badge they can halve the taxicard trips (bit mean i think).

I have never heard of STARS I will look it up, clearly iam doing something wrong as dd has not changed since dla was first awarded (if anything she is more unwell now) so either iam wording it all wrong or they have drastically changed how they do things at their end.

Just a word of warning if anybody is wanting support for dla from GOSH-S poke to our genetics consultant recently, apparently gosh consider that children with eds should not have extra help e.g buggies, wheelchairs etc and do not take a sympathetic line if asked for reports for dla purposes, in fact they will not even refer to eds as eds rather preffering to call it joint hypermobility syndrome and although eds is listed with dwp as a condition you CAN get dla for, hypermobility syndrome is NOT.

Whenever i have taken dcs there they have said a lot to stop using buggy etc despite me trying to explain dcs really cant walk far.

www.stars.org.uk - charity for different types of fainting. Sorry cant link properly as am on phone. The admin woman was incredibly helpful to us last year.

sad more bad experiences at GOSH

Arriane we had exact problem even though ds 3 has dx of EDs 6 from Prossesor Pope ,
till Ds collapsed in a physio session and they could not throw us out quick enough and physio wer elike hmm he has more problems we wont do anything hasty as discharged us from their clinic as to complex as other issues told me go back to local paed and ask for help .

Luckily saw Proffesor G who did cracking report for us and wrote to Gp suggesting we go to st marys

ariane5 Fri 20-Jul-12 17:20:17

I am just so angry about the whole situation id like the dla decision maker who thinks dd1 is same as any other child her age and those at gosh who are telling me no buggy/wheelchair/extra help etc to have to be me for a week and see exactly how difficult things are.

The dcs problems affect EVERY aspect of our day to day life, I cant even leave the house without wondering how i will manage and most of the time i realise i wont be able to manage so we cant go out.

From the minute we get up its physio for dd1 and ds1 then its a case of dealing with what the day throws at us be it pain, fatigue, dizziness, fainting, dislocations, allergic reactions or crippling stomach pains.I am exhausted by it all and just feel overwhelmed by the whole appeals process, apparently i now have to wait another 11 weeks then they will schedule a hearing.All i want is to try and make dcs lives as easy and comfortable as i can and everybody seems to want to make it harder for us.

ReindeerBollocks Fri 20-Jul-12 21:35:29

THC, sorry to here a bout DS3 hope he is Stable and out of hospital.

For anyone who wants help completing DLA forms, I have filled out the best part of three/four booklets. I unfortunately know what to put, so if anyone wants any help just PM me and I'll see what I can do to help. My DS is not in receive of DLA for EDS but I've had nurses teach me how to word them to make sure that the recipient understands the serious nature.

Problem with EDS /POTS is the lack of knowledge. We are under several specialists none of whom have any idea about EDS and the fact that the same professors keep appearing in this thread for the whole country is a shocking realisation of how little is understood about this.

Thank you to Ellie, Sparkle, and THC for the funding info, I have wrote it all down. I finally got a copy of DS's IEP on Monday, but it's been a busy week so I'm having next week off everything (well apart from the two ore existing appointments we have). We have a two week four of IV antibiotics coming up, then about four appointments the week after, including our OT assessment. I have written all the much needed info from this thread and the last thread down and intend to get cracking on it in that period.

DS seems to have been better since holiday but he got a bloody cold last week so we've got a huffy, asthmatic, child this week. He also has been having horrendous stomach cramps, which I've left a message for his dietician as I'm not happy. Lots of leg pains (seems to happen more when he gets run down, especially just at the end of term). Again lots of heat patches, paracetamol, baths and massages - if my boy was shook he would rattle the amount of pills in him grin.

Hi to red white and blue, auntevil, ariane, and ishallwearmidnight. DS doesn't have POTS or any related symptoms but I sympathise and hope your DDs/DS's are ok.

Well were playing ping pong with hospitals Ds collapsed today luckily they got to us and local his pulse was just over 70 ( should be at least 85) his BP was 80/40 dealthy White and limp and floppy yet 2 mins Earlier was fine and happy Conplete change from taci cardiac last week to braci cardiac today

So hospital who went erm we phone St Marys who advised 4 hrs later he was fine happy chatty back to normal so not going today but we may need to go on Monday ( had previously tried phone Dr minis but sectary on Annual leave ) but the pars on call at St Marys is going to talk to get Monday as it's her special area so may need seem quick

But they said any more it's 999 to local then local have instructions to make sure stable and then to transfer to St Marys

Local are happy as admit EDS /pots /cardio not area

auntevil Tue 24-Jul-12 21:04:38

Any update THC?
Just come back from a few days away - picked a sunny few days (packed mainly for storms though!)
Depressing news slightly from school. DS3 looks like he might be displaying similar signs of dyspraxia to DS1. I've always found it difficult to work out if DS3 copies DS1 or they are similar due to habit. We have already been told it is likely he is hypermobile (as we have with DS2) - but his teacher pointed out traits, and asked if I had any concerns. So I agreed to go down OT assessment route.
I think I find it a little depressing as the more I think about it, the more I think 'dodgy genes' which on a good day grin I have to own up to 50% (bad day and it's 100% DH grin ). You want to give your child every advantage in life, but it might be me and DH that have given them a disadvantage.
Thoughtful reflection over - back to positivity.

THC - how's it going now? Were your hospital able to speak to St Marys and get anywhere? I assume the sec is on annual leave because Dr N is too (for all of July!).

aunteveil - my mum has been getting a bit maudlin because most of the stuff which we've had wrong with us has come from her side of the family - I agree though, it's hard when you obsess over everything when they're small, get a bit more hands-off as they grow up, but it doesn't matter really cos you've handed them on rubbish genes sad. The only thing we can do is fight for treatment and support, and not let the buggers get us down grin.

Were home for now local hospital not sure what's going on but it's nice that yet again been witnessed by others .Dr ninis is away at the moment bur hopefully be emergency appointment ASAP Secetary is back Dr ninis back next week and were on urgent list as fortunate or not his collapses been witnesseby medicas also there'd no wrangling as GOSH are not seeing him anymore as they agree something's up so not in their clinic remit (yay )

Hoping we can keep under her for everything in general as IRS not yo far for us

Yup understand the didgey genes I given all mine a dodgey set but ds3 obviously felt not enough ANC mutated a set if his own grin

Aunt

Ug on possible dyspraxic but glad the OT referal Beeing done

Am bit fed up as we seem have appointment every week either ds3 or ds2 and am sick of it

Anyone else dc have constant direaherr I'm sure ds2 has EDS but mainly gastro side

How is everyone else surving holidays ?

Oh and ds2 Bmi is only 16sad

auntevil Thu 26-Jul-12 20:32:46

THC - I'm not sure whether I would prefer an appointment every week, or as per the last 2 weeks - 8 appointments! I seem to have one of those diaries where there is nothing for a month or so and then I get appointment overdrive. I even had 2 appointments last week, same afternoon, for 2 different DS in 2 different hospitals - and made them both! (takes bow - and olympic medal for using public transport and it all running on time)
LOL at THC's DS3, very individualistic grin - looks like my 3 took the same genes and didn't bother to look around for any others or mutate their own. Most people that know us reckon looks wise, that they are really triplets - just that I had them in 2 year intervals!
Diarrhoea - I could write a book about. The thing is, you get quite blase about it. It has to be really bad these days to even register on the 'this isn't really very nice' scale. sad . Me and all DS have IBS - all the diarrhoea version. DH always says 'it isn't natural', but like I say to the boys, you learn to live with it and just get on with life, you can't let it stop you doing/going/being what you want.

elliejjtiny Fri 27-Jul-12 16:56:23

Yes, DS2 and DS3 get random diarrhoea.

moosemama Fri 27-Jul-12 20:50:43

Hi all,

Not been on for a while - again. Things have been ridiculously busy over the last couple of weeks and ds2 has been very poorly with a chest infection. He scared me last Friday by spiking temps close to 41 degrees that wouldn't come down with Calpol. They only came down about half a degree after giving ibuprofen as well, so we were off to hospital to get him checked. He has a history of atypical presentations of pneumonia and was ringing all the alarm bells.

He'd had a cold for about a fortnight and was tired and lethargic, but not coughing. Then on Friday he suddenly started complaining of pain in his stomach and bottom of his ribs, followed by the temps - all pretty standard symptoms for him having pneumonia in the past.

Fortunately we caught it early enough and they felt it was a bad chest infection rather than pneumonia. He's still on antibiotics and will probably need a second course, but I am so relieved that he didn't end up in hospital this time.

Anyhoo, back to EDS. We have news there as well.

First of all, it turned out my Mum's insurance didn't cover a referral to London, so she can't go and see Prof G, BUT she has had a painful shoulder for over a year, which her pilates instructor thought was a rotator cuff injury and has been helping her gently exercise. Well, it got much worse this week, so she went to the doctors only to be told it was a bad dislocation, one of the bones has become lodged under her collarbone and because it's been so long, is now fused there. Apparently there's nothing they can do for it other than inject anti-inflammatories. She's had an mri to double check the dx this afternoon, but the consultant was pretty sure about it. Apparently it happens to a lot of rugby players. So - not just a sub-lux, a major dislocation. Kind of backs up our theory about the family history.

AND

Ds2 had his physio assessment this week. Lovely lady, did the whole Beighton scale with him again, took a history and said she agreed that the Consultant's dx of 'lax ligaments' is not a dx at all and totally unsatisfactory. She said ds is extremely bendy and given the family history and amount of pain she wanted to take his details to a colleague of hers who specialises in EDS and hypermobility. She said at the very least he should have been dxd with BHJS.

So, she gave us some basic advice, told us to go swimming, but not swim, just walk/move around in the water using the resistance to build leg muscles and to try and get him cycling. She didn't want to do anymore until she had spoken to her colleague, so ended the appointment there and went off to talk to her colleague and do some research about who might be able to help. She's booked us a double appointment for next week to discuss what her colleague advises and hopefully start teaching ds some gentle exercises to start working on. (She wants me to do them too, as she said we would both benefit.)

Not sure if anything will come of it, but at least it feels like someone is listening and understanding now.

Oh and we have finally got ds1's statement sorted out. Loads of stress, but much happier with it now.

Right, need to read the thread back now. Just scanned the last couple of posts and noticed THC's ds has been in hospital again. Hope everything is ok?

auntevil Sat 28-Jul-12 17:14:33

Moose, read the bit about your mum's issue with the collarbone and shuddered - surely that should be an indication that she needs to be seen by a specialist on the NHS? (said in hope biscuit
Hope your DS feels better quickly, always a shame when they are unwell and the weather is good. We have had precious little so far this year and seeing the sun is restorative in itself.
Why is it that OTs and physios seem to understand the difficulties far more than Drs and paediatricians? DS has just finished his first session of sensory integration - with another planned. The report that was written totally summed up DS's difficulties and how it currently affects him and how it might affect him in the future if it is not worked on. As you say, it feels so refreshing to hear a professional concur, far more edifying than the paediatrician saying that hypermobility is normal - hindered by dyspraxia, hindered by sensory issues. sad

moosemama Mon 30-Jul-12 14:30:32

Finally got round to reading the thread back, just, but have instantly forgotten most of what I've read. blush Sorry, I really get cross with my swiss-cheese brain sometimes. sad

THC, I hope ds is ok and hasn't had anymore scary episodes. You always sound so calm and in control, you're one helluva Mum. smile

Ds2 had his second physio appointment today. Feedback from the hypermobility bod was that it would be a tough fight to get him properly dx'd, despite meeting the criteria, but that it's up to us if we want to take it on. (No advice on how to pursue it if we do though. hmm) Physio felt it would be a fruitless fight, as he wouldn't be offered any more than the physio he's already referred for anyway. hmm angry

I explained that whilst obviously the most important thing to me is to reduce his pain and improve his mobility, I felt that, knowing them, the school might not take things seriously enough without a proper dx. We discussed sensible precautions and actions the school should take and were in agreement about them. Then she suggested I ask the GP to write the school a letter, which is probably pointless, given that they've received the cons paed dx of 'lax ligaments'. The physio actually refers to him herself as having jhs, so I was a bit hmm that she won't do a letter herself.

I asked her to check his feet to see how flat and overpronated they were and she said that surprisingly they're not too bad at all. She asked to see mine to compare and said his are nothing like as bad and she reckons we can improve them enough with exercise, rather than orthotics, as whilst I have no arch at all and a severe inward roll, he actually has a decent arch (so at least the paed got something right).

What she wants to focus on now is building up his strength and stabilising the joints to reduce his pain. We worked out a circuit of 12 exercises for him to do daily. He has to do each exercise twice, so roughly a 24 minute circuit. We start tomorrow and are back to see her again next week.

She also spent about 15 minutes trying to persuade me to buy a Wii. angry I explained that we can't have one, as ds1 has autism and is obsessed with computer games consoles, so it would be a source of constant arguments and dischord, but she was very insistent, saying it would be the best thing for ds2 in terms of indoor exercise. I'm not too impressed by that really, as it seemed a bit like, if they recommend the Wii fitness stuff, then it makes their job a lot easier, as they don't actually have to come up with an exercise plan themselves. hmm

One of the good things is that the elements of my circuit training dvds that ds likes to do are ones that will, with a bit of adapting, work well for him. So that might actually encourage me to start exercising again and if I'm doing it with him, I won't be able to do my usual and push myself too hard, I'll have to ease into it very slowly.

Still ruminating on the appointment really. Feel a bit fobbed off, as basically we've just been told to improve ds's fitness and he will be fine. I kept explaining that the reason he hates sport is because he always ends up either injured or in pain and she just said that once he's fit that won't happen anymore. No advice for how to get him fit when he is in pain almost as soon as he starts to exercise (or in fact just by sitting or moving wrong). She just said to work out his tolerance and then go only half way there rather than pushing to his limits. That doesn't really help, as he can be in agony having just got up from a chair - how am I supposed to make him exercise then? confused No advice on what to do when his joints give out during exercise either. Surely we will have to stop as soon as his legs start to hurt (which is what she advised for PE at school) which kind of renders the whole thing impossible. hmm

auntevil Mon 30-Jul-12 14:46:01

Moose I feel for you. DS1 was told by OT that he was only as good biscuit as he was due to the amount of sport that he played - and he is pretty poor at a lot of activities sad . So we have this going for us - DS likes sport and will give almost anything a go. He is chronically lazy though, and would do absolutely nothing given half the chance.
Have you given all sorts of sports a try? I only ask as DS loves golf at the moment. The pro that runs his lesson keeps speaking to him about posture, and how it would improve his game. So we 'devised' a new exercise plan to help his posture. This plan was some of the other exercises from his sensory diet that he doesn't like to do that I basically 'bull sh***d' were specifically to help his shoulder/neck and improve posture to help with his golf. God kids are gullible grin Fact is, they should help as they are for his core anyway.
Just thinking that there must be some 'sport' out there - even non-sports such as snooker/darts/bowling that could be used to introduce exercises that need to be done? They all involve quite stationary actions that could be helped by exercises seated/on a gym ball etc - same as a wobble board - you don't move as such, just balance, but helping the core, helps control the limbs ...

moosemama Mon 30-Jul-12 15:13:28

Hi auntevil, he actually likes circuit training, particularly the strength training bit, which is in his favour really, as long as we make sure he gets his form right and that's the tricky bit. We used to do the 30 day shred together - well I did the shred and he did a couple of each exercise before collapsing in a heap. He used to enjoy the kickboxing elements of one of my dvds as well.

He also enjoyed the few pilates lessons we did last summer.

He's seriously not into anything that involves running around, which could be down to his leg pain I suppose, but I suspect is more related to a distinct aversion to being energetic! wink

He does like the wobble board too, but we need a new one as the first one we had was too easy (my attempt at encouraging ds1 to work on his core).

bizzey Mon 30-Jul-12 21:21:43

hi all ,sorry not been on for a while ....still having smelling salts after seeing ds1 uniform list for september !!!

Have scaned quicly and really feeling for you all (xx) pretend you didn't see them !!

Wierd thing has happenend today ....Hospital ranng to offer genetic app on Thurs (which cant do) so got that 13 sept....AND GP phoned at 9.00 pm to acknowlege my phone call last wednesday in regards to comm pead app....

Wait for this ....they dont chase/follow up referals made from othrs peads back to them if "a parental nod is not put in their way " ////???

?ie if i had not chasesd up why an appt had not been given yet it would not have haappened .....

Am impressed he rang me at 9pm ...but words are now failing me !!!

auntevil Tue 31-Jul-12 17:41:40

bizzey - it kinds of proves the point about the squeaky wheel getting the oil. I hate the nagging factor, but you have to be constant (a constant thorn in their side) to get anywhere. Its very depressing as I'm sure in the ideal world, the professionals wouldn't want us to be like this too. Whoever put money into the equation, eh?!!

auntevil Fri 03-Aug-12 20:09:36

Quick update. GP has refused to request any genetic testing as paediatrician doesn't believe symptoms of hypermobility, IBS, developmental delays etc are related at all. Looks like I might be going private. Anyone know anywhere good in London?

elliejjtiny Sat 04-Aug-12 22:10:04

Sorry, haven't been on for ages. My mum, dad and sister took DS1 and DS2 on a 4 day holiday to "give me a break" 2 weeks ago. DS2 is still recovering from the exhaustion. He's not lying on the sofa looking like a pathetic angel tired, he's screaming, regressing in his development and being a pain in the neck tired. I don't think the "break" was worth it tbh.

auntevil that's rubbish, even I know that all those symptoms are connected. Mind you, I've discovered that as a parent I know more about EDS than some dr's.

bizzey I've found that the parents who moan the most get the best results.

Auntevil, I'm on my phone so can't scroll too well - where are you exactly with diagnosis, and what exactly are you looking for now?

Prof Grahaeme is probably the "best" eds person in London, but I'm not sure where he stands on the other stuff being linked. I think he agrees about gastro stuff being connected, but thc is more likely to know as I think her ds has gastro issues, whereas my dd didn't especially so it wasn't important for me to remember ifswim.
If you already have an eds diagnosis, then there is probably someone else

auntevil Mon 06-Aug-12 11:27:43

You see, this is the problem midnight. We have lots of individual dx for all 3 of the DS. DS1 has dx of dyspraxia, hypermobility, IBS, SPD, food intolerances and has just been referred to physio for repeated sprains/tendon/ligament issues and other issues such as visual tracking etc. The other DSs have IBS, food intolerances, difficulties in swallowing (physical cause), soiling issues (referred to Evelina) and both have been advised by 2 separate sources (gastro paediatrician and OT) that it is highly likely after they examined them that they too are hypermobile.
General paed will do nothing as she doesn't believe any of the above are related.
I find it difficult to believe that all 3 miraculously have these commonalities, but none of it is genetic and that the gene pool kept bringing up the same genes each time.
My concern is that we're missing something that might prevent further treatment down the line.
I asked for DS1 to be checked with array CGH - cost to NHS £100 - refused.
How much do you think that referrals to GOSH (DS3) and Evelina (DS2), and repeated investigations to find out why they still have issues in regard to musculature which should have been resolved by their ages?
I think it annoys me even more when a friend who is a pharmacist, has to collect in medication from wards in hospitals that has not been kept in the proper conditions (refrigerated) - and the cost is £100s each day. He threw away £2000 of medication that was individually tailored as the patient didn't turn up - and they won't pay £100 for an investigation.
I would add that if I go privately - which looks like another option - the price does not start at £100 - more like £360 upwards. The £100 is a NHS negotiated price - as advised by a friend who is a consultant paediatrician. Same paediatrician who said that if DS1 were to be in his area, it would be one of the first tests he would do.
Sorry - long rant. I just see the NHS as being so short sighted and re-active. Why treat the symptoms and not find out the cause?

thc is having similar problems with there being other stuff and nothing is being looked at as a whole. She (as we) have been referred on to St Marys, but as of yet, I don't have any feedback as to how integrated Dr Ninis is (or can be, as she's NHS). thc might be able to help, as I think her DS was fast-tracked to Dr N, but she hasn't been able to update us here yet. But that was via a private appointment with Professor Grahaeme.

Have you looked on the hypermobility.org boards to see if there is anyone who is dealing with "mixed issues"? GOSH don't seem to be, the teen clinic at UCLH seems to (or at least they refer on to others, but keeping it within an EDS/hypermobility diagnosis).

I wonder though if it's not actually possible for one clinic/department to deal with all the different issues (which is why it's supposed to be coordinated through a paediatrician, as they are the ones who are supposed to take an overview), and there just aren't enough/any eg gastros with an interest in EDS. Plus stuff being linked is relatively new - I was mildly told off by DD1s rheumatologist when I asked if her nosebleeds were linked to her JHS (as was discussed further back in the thread, some doctors think yes, some think no), as "just because someone has lots of different symptoms of things, it doesn't mean they are connected" hmm. Perhaps the research just isn't there yet, or hasn't filtered through to the front line. Which doesn't help those of us who are battling awaysad.

Can you change paed to one who is more supportive? We've dumped DD2s paed as neither we nor the GP think he's helping at all, but the GP is prepared to refer on to whoever I ask him too. Otherwise a private appointment with Prof G would at least give you something in writing from a top specialist as ammunition against your current paed. It might be worth speaking to his secretary and asking his/her advice (anecdotally, the private secretaries have far more access to the specialists to "have a quick chat about a potential patient to see what we can do for them" than the NHS secretaries do wink). I think he is around £300 for an initial appointment. Or Dr Ninis at St Marys (who has a lovely helpful secretary, but who is v busy), don't think she does private though, but if you were able to speak to the secretary, your GP might be able to refer...

Sorry for the length of this grin, it's partly a ramble and a brain dump as I think through the system. Pick out anything that's useful, ignore the rest wink.

auntevil Mon 06-Aug-12 14:29:44

thanks midnight
GP won't refer as PCT guidelines say that paediatrician has to do it.
Paediatrician is a second opinion blush as first paediatrician wanted CAHMS to sort out DS for his IBS symptoms as she believed it was all psychological (diarhoea - wtf!). So got re-referred to current paed who sent him to gastro - who in fairness is good, but often says that he cannot confirm/deny as it is out of his remit as a gastro.
Current plan is to get the array priced up, but Prof G could be a plan too. GOSH weren't interested in sibling history particularly and as he was the only one referred it went no further. I imagine Evelina will be the same, as only DS2 referred there.
It's a toughie as I can understand that no-one is specialised in all areas, but surely that also means that they should not be dismissive of a different discipline's ideas. So when my gastro says that IBS and hypermobility in his opinion are linked - and that IBS is a gastro issue, surely a general paediatrician shouldn't over rule and say 'no it isn't'?
Co-morbidity is also a very grey area. It is difficult with the dyspraxia to know where the tiredness in his joints come from. It's also difficult to know when he over reaches on his joints whether it is due to hypermobility or to inefficient planning of the movement due to dyspraxia. I can see that with motor skills, but surely intestinal movement is not so governed by motor skills? Surely it's mainly involuntary (with a little voluntary at each end blush )

bizzey Mon 06-Aug-12 18:16:17

hi all...I have just read back on last few threads....and cannot believe that all these "experts"...can have such different views and opinions !!!!!

As said earlier I have got Genetic app for 13th Sept which I will update you all on in case if gives you some ammo for your own fights !!

But I have to be honest and say I may have got the app as I/we also have the spastic paraplegia in the family as well... and they ?poss trying to rule out (Please God) or connect it together ?

BUT dont worry I will be asking loads....and I could "try and slip in" a few of your questions as well if you want / Ican ??

auntevil Tue 07-Aug-12 10:41:09

Yet another quick update.
I sent an e-mail to local genetic testing hospital to ask for private prices. My e-mail was just a brief one saying what each DS had dx and that so far paediatrician and GP had refused to refer.
First e-mail back was to let me know cost, £350 for the test, but also that it had been passed to the clinician team.
20 minutes later clinician e-mailed saying that they were surprised that I had not been referred as we met the criteria for referral that they give to the PCT areas which they cover, and which the cost to them is £0.
Yep, we are most definitely in their catchment PCT area.
Its the first time I have ever seen DH even mildly angry - probably as he is starting to realise that what I am asking for is not out of the realms of reality, not cost prohibitive, just clinician denied.
Thinking cap back on as to how to play this next.

bizzey Tue 07-Aug-12 10:49:29

Wow !!! What are you going to ??? I am not an expert on this but I think you need to involve PALS ??

Good on the Genetic hosp for being honest and not just try and take your money !

I am in shock !

elliejjtiny Tue 07-Aug-12 11:15:21

auntevil DS2, DS3 and DH had the CGH microarray done last year. They tried to test me but after 10 stabs they couldn't get any blood. Then when I had a miscarriage in december they were going to try again to take my blood while I was under GA and try to do the CGH array on the baby too.

DS2's results came back normal. DS3's results came back with a duplication of a tiny bit of one of his chromasones which the geneticist said was a variation of normal (I think it was his ginger hair grin). DH's results went into his notes and nobody thought it was a good idea to inform the GP or the geneticist what they were hmm. Mine and the baby's never got done. After all that the geneticist said that EDS hypermobile type wouldn't come up on the microarray test anyway [bangs head against brick wall]. I know that sounds really pessimistic but I'm just saying with hindsight if I'd had to pay for it I wouldn't have the CGH done, I would rather pay to see someone like professor grahame or someone else who is an expert on eds/hypermobility.

I also have dyspraxia and hypermobility and I'm fairly clueless about which symptoms go with which condition as they are similar in a lot of ways.

auntevil Tue 07-Aug-12 11:40:48

LOL at the ginger hair ellie grin

Bizzey - I have put so many complaints through to PALS that they are going to think that I am a vexatious litigator! Although in fairness to me grin I have had apologies, meetings with managers and results that I wanted from all of them!

Current thought is keep plugging for NHS and private for consultant?
This is the thing, there may be something, there may be nothing, there maybe something like yours ellie - something but in the realms of normal.
We do know that DH has an extra arm on chromosome 9 - further than that we know nothing. No-one has ever said that this info is in any way important, but I do know that it is involved in the production of collagen - as are other chromosomes though.

I just feel that I have a serious lack of support and information from the very people that should be advising.

Paediatrician's advice - hypermobility - normal happens in 10% of the population. Dyspraxia, yes, exacerbates the hypermobility. Hypermobility and IBS are not genetically linked. Bye, see you if you get any further info that you want to discuss - otherwise I don't want to see you again.

GP - we defer to paediatrician.

Grrrrrrrrrr - you can probably hear me screaming from wherever you are

elliejjtiny Tue 07-Aug-12 14:13:30

The neurologist we saw was like that. As soon as he saw we were all hypermobile he was all "It's obviously BJHS/EDS, have some physio, there's no point in seeing you again". Thankfully the paed is more understanding but as we're reluctant to put DS2 through the next stage of invasive testing (muscle, skin and nerve biopsies) when the results probably won't make much difference to him then she isn't really sure what to do with us. So we just plod on, seeing the paed every year and DS3 gets a bit of physio.

Aunt

Silly dr not linked EDS is a connective tissue disorder Abd the bowel is a tissue as is the heart !!

Ds2 gastro pretty sure it's linked to hid as yet undx EDS were of yo genetics for him next week

Moose wonder if GP will refer your mum to Proffesor Grahame on nhs at UCL maybe worth a shot

Can't report on Dr n yet looks like next week but she has arranged for 24 heart monitoring ds3 is all wired up but going home with .

Ds3 as has so many issues was refered for geneti. Testing but the orgibal is neg

But have friend in the genetics field said the nhs microarray is old style and not so sensitive . The best is next generation sequencing But not available on nhs and not likely be for 5/6 years

Ds3 was fortunate and on same study as Ellie Ds I think ddd study where means we get access to them but that's looking St development over all

Oh and EDS is genetic Proffesor pope agrees but seems both me and his father he reckons carry the EDS 6 gene hence how comes Ds has where in my other the dominant EDS 3 gene won out ( know I carry 6. But his dad won't agree be tested but were pretty sure

A d ds3 adds something extra all of his own

simpson Wed 08-Aug-12 20:27:17

Hi

I have been on this thread before but then totally forgot about it!! blush

How is everyone??

I was just wondering if anyone here has experience of group OT/physio sessions??

DD has had OT and physio (which is still ongoing) and she has been referred to do a 6 week course called "Hop, skip and write"

Just wondering what it entails really.

DD finally had her first physio session last week (only waited 8 mths!!) and she did say DD will have "considerable difficulties" when she starts school in sept sad in reception.

School seem to be good so far, she is going to have 30 mins a day 121 OT/physio and I have a meeting with the HT to talk about what extra help she might need at school. So anyone with school age DC I would love to hear some tips.

So far she is going to need a foot rest and special scissors and extra help going to ICT classroom as its up stairs and help at lunchtime carrying her lunch tray.

auntevil Thu 09-Aug-12 08:44:26

DS had a joint OT/Physio course when he was in reception year. Can't remember what it was called, but there was a group of 4 boys, all of a similar size, and they practised self help skills by making it into challenges. They also practised cutting and writing skills. They also had to take their PE kits in to practise changing into them!
DS has some OT each day at school, various things; seat wedges, writing slopes etc. No stairs in school and he has packed lunch.
The biggest problem I have, which could be a back handed compliment to DS, is they often forget and don't think how an activity might affect him. Because DCs try to fit in and try not to look out of place, they often do things that over reach them, and us parents pick up the pieces. If i had a penny for every time i was told 'he looked like he was enjoying himself' ' he really wanted to join in' ' i didn't think until afterwards that it might have been too far' .....

Jhmm we have joint Physio /OT but not group Ds always has on his own

In school we have seating ,( OT provides ) special cutlery , ( I provide ) special scissors ( school supply ) pencils pens with grips school supply )

He needs adult on the stairs , lunch tray I'd carried for him . But he prefers packed lunch as chewing takes effort

PE he does not currently get changed but if does he needs adult help as takes to long and wears piedros

Ds will have minimum of 30 mins Ot a day ( statement ) and PE he need extra help Also supervision in playground to keep him safe 1-1 for swimming to

Wheelchair for getting to pool

He bd y3 September so it be a new school and suspect very bumpy at first Till I get them straightened out

Ds does not think how it will affect him but he stands out anyway so his difficulties more obvious to people iykwim

Fortunate that ds3 is very happy go lucky and his other issues stop him being aware just how differnt he is . So we get away without one of the most difficult things with EDS is the physlogical issues that come with realising how differnt they are

Pain wise since he has always had it it was pointed out to me that Ds never known what it's like tO be pain free and I cried hard at that

simpson Thu 09-Aug-12 17:45:58

Thanks smile

Not sure how happy the school is going to be with DD essentially missing pretty much every Wednesday for 6 weeks (she will be able to go in till 11.30 ish) then I will have to pick her up early even though appt is not till 1 as she has got to eat before session iyswim.

auntevil Thu 09-Aug-12 17:48:09

That's the thing that worries me THC - how do you measure their pain. Me and the DSs all have a high threshold for pain. Today DS3 ran into a post - huge eggie, literally half a minute of tears, which I think was more to do with shock, then not another mention. DS2 shinned his knee climbing a tree. Blood streaming down and he did not notice, one of his friends did.
Do they develop this threshold because they have more residual pain?
I remember when we took DS2 to A&E as he had fallen and his ankle had swollen twice its size. The triage nurse asked how much pain he was in - and he pointed to the smiley face. Even she told him he couldn't be, it had to be worse grin
With DS1 it's the tiredness as well that I feel sorry for. It must be hard to constantly put more effort in than most of the rest of the class to do anything, yet he is given no credit for the positivity in which he handles it.
Still seething about several comments in his school report including: needs to be more confident in PE angry

Ug aunt I would be going and having words about it ffs twunt he not realise the effort it takes our kids to just even stand up right

Simpson

Ds3 attendance is dismal he has had only 2 days of sick rest is appointments . He has had two lots of hydro which involved 1 session a week but as distance he had to have whole day if ditto Physio and Ot and paeds etc

I just copy appointment letter to them

elliejjtiny Sat 11-Aug-12 13:29:44

I had a few group physio sessions in about 1988-1990 and I loved it. It was like PE at school but only with other children who were bad at it. We also did art and craft stuff (I remember making paper trees and putting stickers on balloons to make them into people). We also had snack time and 1 person was in charge of the orange squash, one person had the lemon squash and one person had the biscuits (we took turns each week). If you wanted a drink you had to ask the person whose turn it was to do the pouring rather than the physio which helped our social skills. I think most of the other children had dyspraxia as we were working on co-ordination, balance, speech and social skills. It's probably changed a lot since then but I found it was really good.

At school DS2 will have hand rails in all doorways with a step, extra step so the steps aren't as high, step for the toilet, toilet seat so he doesn't fall in, a parent helper to open the toilet door for him (it's on a spring), push his wheelchair when he gets tired and press the button on the hand dryer. The OT is coming to reasess his needs in october and we will have a meeting with us, the school and all other proffessionals in november. I thought I was happy with that but when he was on holiday with my mum and dad he went to the children's group for 2 90 minute sessions with a one to one helper and he loved it so much. I'm now not sure whether to push for one to one at school. I'm worried about his social skills though as he will be doing less hours and he is so grumpy when he's tired, so thinking if he has an adult hovering around him all the time he won't bother making friends with the other children. DH has AS and DS1 is borderline AS so I'm a bit paranoid about social skills.

auntevil Sat 11-Aug-12 17:49:50

A good 1-1 won't hover intrusively. They will back off when your DS is happily playing with others. They should know that they are there to facilitate, rather than take-over. They can also manipulate social situations too, which might encourage your DS to socialise. Its worth asking if they have any 1-1 time planned - it may be unofficial hours such as the parent helper.

ettiketti Tue 14-Aug-12 08:35:05

Hi all, tentatively checking in here as DS (7.5) has just been referred to a paediatrician for what GP is sure is hypermobility syndrome.

I took him along myself to ask if it might be and she was shocked at his joint movement but tbh he only really complains about legs hurting.

Reading mn, I can see a few other possible signs..he walked late being one, but not sure what the outcome will be or what to expect.

He has always complained about his legs hurting after relatively short distances and we've always classed him as a moaner blush, he enjoys karate and tries hard at pe at school, so much so he was awarded sportsman of the year this year at school, to our amazement, and many of his peers wink he hates football with a passion tho and this has always caused him the most pain/tired
legs.

Trying not to google and scare myself to death, I'm not really a health worrier, would rather deal with what I'm thrown when it happens rather than What Ifs. Not looking forward to possible battles in future should we get shabby treatment tho, our area isn't renowned for its excellent healthcare provision sadly!

So, just checking in really and reading with interest!

auntevil Tue 14-Aug-12 10:17:24

Hello Ettiketti - welcome smile I know relatively little in comparison to many on this board, but it has been a wealth of information. We're still early days too, and already a little shock with level of support from NHS etc.
My eldest DS(9) loves football - but I found that FA Skills was better for him than any of the little league type clubs. It - as it suggests - is more about developing skills and less about playing a match. There's maybe 10-15 minutes at the end of proper match in an hour and a half session. If you add that and the fact that he likes to be goalie (lots of just standing!) - he manages to just keep up. He walks like a little old man for the rest of the night though!
The only thing that the paediatrician has said to me is to keep him active wherever possible and use supports when the joints start going shock

elliejjtiny Tue 14-Aug-12 12:56:54

Welcome Ettiketti. I have 3 boys aged 6, 4 and 19 months who all have hypermobility/EDS with varying degrees of severity. DS2 uses a wheelchair, DS1 is mainly just bendy and unco-ordinated and DS3 is somewhere in the middle. Hypermobility varies so much and google usually tells you the worst case senario. Most people who have hypermobility are like my DS1 I think.

Welcome Ettiketti

I am sorry I have been awol....my punishment is it has taken me ages to catch up wink

Hope summer is going well for all, we are fine, ds is having quite a bad time pain wise, but on the plus side he has learnt to ride his bike.....YEP WITHOUT STABILISERS!!!!!!!!!

Off to the hospital tomorrow to see rheumie....lasy appt was good, but was just him, this time is case conference so he will probably be back to his unreasonable, arrogant self hmm

Auntevil - while I remember.......NOOOOO can't believe the paed told you to just support a painful joint and carry on. Prof Grahame said to me years ago that pain is your body's way of communicating with you, don't ignore it, if it hurts then stop straight away. Only this way can we hope to avoid permanent degenerative damage of joints, which will cause more problems in later life......argh Blardy ignorant drs.

auntevil Wed 15-Aug-12 10:02:25

sparkle I'm beginning to get that impression about DRs myself. Seems to me that they are all experts in only very small areas - and as accurate as an unchecked google on wiki in any other area. The paed that told me about about just supporting his joints as they got painful also claims to have hypermobility shock. She also reckons that he will need the most help with his wrists as he flaps when he runs. Strangely, it is his ankles that keep giving way that we keep having to go to A&E with. A&E just keep saying rest. Only the OT has referred us to physio - so hopefully we might get a better understanding there [said in hope emoticon]

I think a & e are right, rest and gentle physio are the only way. Paeds with a little bit of knowledge, but not enough are a dangerous beast.....can you get a referral to a rheumie who specialises in connective tissue disorders?

auntevil Wed 15-Aug-12 10:56:32

A&E have never offered physio, they just send us away each time with the soft tissue injury leaflet. It was DS's OT for dyspraxia that did the referral - which hasn't come through yet.
There was a thread yesterday about gait and walking. I made DS 'walk' for me today and it's so obvious he has painful and stiff joints. He is walking from side to side with very little movement in his hips. Looking forward to the physio appt coming through

ettiketti Fri 17-Aug-12 16:55:34

Thanks for the lovely welcome, I have had a week off work with them this week and its been great - DS is recently off stabilisers too and he is SO much better on his bike than walking - rides for seemingly ages but within a few minutes of walking complains his legs hurt.

I think we will have to wait and see who we are referred to and what they plan to do about it if anything, I do work at our local hospital so should hopefully know the Consultant he is referred to which often helps (although it shouldn't!)

how is everyone?

The heat over the weekend meat that DD slept even more badly than normal, but yesterday's skating and swimming tired her out a bit, so she slept in till 10 this morning. I was "not very happy" about letting her skate, but I've made a conscious decision not to mollycoddle her and let her start dealing with things herself, so skating it was. But she hasn't fainted now for 16 days which is almost the longest she's stayed upright in the last year, which is fantastic.

We'll have to see how things go when school starts again, which is when she tends to get more stressed (although she has two GCSE results to collect on Thursday, and is fretting about her appointment next week - "what if the doctor doesn't believe me? What if we don't see her and just get a registrar who doesn't know what they're talking about like before? etc etc).

auntevil Tue 21-Aug-12 11:17:14

Pleased that your DD has had less fainting - and hope she's pleased with her results on Thursday.
Did have a long whinge re DS2's IBS written, but apple is playing silly b's and I lost it.
Midnight, I so get your DD's frustration at having to repeat everything to all and sundry - stresses me out too!

her attendance last year was 64%, so just having managed to turn up for the exams is a bonus grin. In reality though, she's hoping for 2 Bs which would be really great.

elliejjtiny Tue 21-Aug-12 13:11:00

Keeping my fingers crossed for your DD's appointment and exam results midnight. We're fine, enjoying the chance to chill a bit more with no school and preschool. DS3 has got his tiny piedro boots and DS2 has got his new piedro boots on order and we are waiting to find out if he is going to get inserts/ankle splints to put in his pe shoes.

auntevil Wed 22-Aug-12 13:37:05

I've got DS1s appt through today for physio - yay!
His paediatrician didn't think it was necessary and he would only need supports as he got older, A&E just go 'oh' when the word hypermobility is mentioned and do nothing other than check that the swelling isn't a break! But good old (she wasn't!) locum OT who did DS1s sensory integration did refer. Unfortunately, she isn't still with the PCT - but one of the first that has done exactly what she said she was going to do.
So, next question. I'm assuming that she will give him a bit of an overhaul on the first visit - check how he walks etc? It has been a long time since DS has seen a physio, and at that point it was only really to concur with the dyspraxia dx.
What do I need to check they do, any particular questions?
Completely random, but did I see somewhere on something to do with hypermobility that cuts that gape and struggle to heal properly is connected?

re cuts - yes, it's to do with the connective tissue in the skin. There's also something called "cigarette paper scars" but I'm not too sure exactly what they are. The ED support group has this list of symptoms.

auntevil Wed 22-Aug-12 17:22:37

That is really interesting Midnight.
DS1 fell in the bathroom last week and says that he didn't knock it on anything, but his ankle gave way and he skidded. He got a cut to his knee, and I ended up at the walk in clinic as it just didn't seem to want to close together - but also wasn't really bleeding either confused
Anyway, Dr put those strips on, but didn't seem convinced and told me to go to A&E if it didn't heal properly in a day or so.
All very weird - added to the fact that it was his ankle that hurt and he wasn't bothered by this gaping hole in his knee at all!

I give up can't fight any more

Trust had tightened up on her and all Dr ninis can offer at the moment is to advise local paed on support and what to do re physik etc

Which we already have that OT /Physio /Gentics on board

Local team sent us to Gosh as he was to complicated , Gosh discharged because of him collapsing si he just carry on collapsing and were have to live with it

an A and a B for DD, which she's delighted with (the B was 4 marks off an A which is a bit [grrr], but anyway). So that's one thing out of the way, now the hospital appointment (and struggle to get school trouser which a. fit and b. she will wear wink)

So yet again we fall through the gaps , because he is complicated unless I can find money to go private

thc - can she not help re medication (I know he's only a bit PoTS-ey, and there's other stuff going on as well) but surely there's something you could at least try? So Dr N is now a "diagnose and advise, then pass back to local hospital" person? That's immensely annoying to say the least.

Seems she can't even diagnosis now as the trust not happy all she can do is advise locally how best to support him

Locally gave up ages ago as to complicated so I just mange it and guess will just have yo carry on

Where do you go though even the national EDS charity can't really help as type is rare so little info and because he has the extra complications of other stuff . It makes him complicated

Midnight that's the trouble no one knows it is POTs or something else that makes him collapse were averaging minmum of once a week and bounced around hospitals . Nothing more now till December when we go back to local paed

Guess now just wait on the DDD study see if anything comes back

elliejjtiny Thu 23-Aug-12 15:27:59

(((hugs))) THC I feel your pain. Fingers crossed for the DDD study. Does your DS3's dad have EDS as well? Just wondering as I'm trying to work out why DS2's EDS seems to be so different from everyone elses. DH and I both have EDS so wondering if this is the case for your DS as well as he is one of very few that I know of who are similar to DS2.

moosemama Thu 23-Aug-12 15:31:48

THC I am so sorry to hear you have been let down again. It feels a bit like an NHS conspiracy is going on to prevent proper dx of EDS and related conditions so they then only have to provide barest minimum (for that read no) care at local levels rather than funding a suitable specialist service. angry

Just a thought, but have you tried googling some American sites re your ds's collapses and their relation to EDS. Would it be worth contacting Diana Driscoll at all, she has so many connections, she may just know something or at least be able to point you in the right direction. I know private treatment isn't an option, but it might at least arm you with some research/info the NHS would find hard to ignore. It's a long-shot, but may still be worth a try.

moosemama Thu 23-Aug-12 15:31:57

We are just back off our hols, where two days in I stumbled into a hole on the beach and ended up with an ankle inversion, sprain and I now think possible avulsion fracture of the 5th metatarsal. I had exactly the same injury two years ago, but on the other ankle. hmm Dh said he was sure I'd broken my ankle because he saw it bend completely round so the end of my shin bone was touching the ground. He couldn't believe it when I just swore and limped back to the camper! Annoyingly, just like last time, there's not much to see. It's pretty swollen, but none of the dark bruising other people seem to get. Nothing to look at, but hurts like hell - not a good combination for getting sympathy and help around the house. hmm

Ds2 has tried to be more active, but we have monumentally failed with his physio circuit, as I need to do them with him - or at the very least follow him around as he goes. He has done lots of running around on the beach, climbing sand dunes, water wading, playing beach tennis, riding his scooter and walking the dogs though, so much more active than usual. He coped pretty well, but his ankles in particular were very painful at the end of each day. He also had a session on a pilates reformer before we went away and that went really well, so he is going to have a few more sessions on that soon.

We have a physio appointment next week and I think despite him being generally more active, I am probably going to get a lecture for not keeping up with the circuit training. I am ready for an argument though, because the exercises she wanted him to do were downright dangerous at this point. He needs to build up his core and general fitness before she has him trying to squat and lift dumbells simultaneously. He isn't strong enough to hold the correct position long enough to carry out the exercises yet and needs to build his core and basic strength before getting into dumbells etc. Pilates instructor (who is qualified in sports medicine and anatomy) agreed with me after her assessment and first reformer session with him. She said he needs to stabilise his core before he starts trying anything more complicated. Feel like cancelling the physio for all the good it's been so far, I know more about fitness and circuit training than she does and what I know isn't all that much, just based on my own workouts. sad angry

Oddly, ds1 has received an appointment for another OT assessment. confused When we saw his paed a couple of weeks ago I mentioned that he'd never had a SALT assessment and he was shocked, as it should have been done as part of his multi-disciplinary ASD assessment. He said he'd look into it for me, as he was going to the assessment unit in a few days anyway. Then while we were away we received a letter from the unit saying ds1 has an appointment for both a SALT and OT assessment in a couple of weeks. All very odd, considering the lenght of their usual waiting lists. He had a basic OT assessment done last year (referred by HV) at around the time of his ASD assessment (he scored bang on the cut off point, so wasn't entitled to any therapy) and I hadn't realised they weren't joined up enough to have incorporated it into the process. It now seems they completely missed SALT and OT from his ASD assessment (he was a pretty clear cut case, but still angry) and are now panicking and trying to rectify it retrospectively. The good thing is that I have met their OT and she is very good, so I fully intend to grill her about hypermobility while we're there!

Thing is they all suspect something Cardio /pots related but because he also has suspected chromosome issues dd and verbal oral dyspraxia waters all muddy

Have decided that Not going to chase anything more this side of Xmas am sick of it will see what happens after repeat cardio tests and paed in Dec

Not sure but it looks like I carry recessive gene for type 6 also dominant gene for type 3 also his dad may Carry recessive gene

auntevil Thu 23-Aug-12 17:11:07

THC - do you think that maybe a quick (as it probably will only be quick sad ) break from chasing might give you a breather and then you might feel ready for another fight? I know how it feels to fight and feel you're getting nowhere and not know what avenue to go down next to get what you need. Sometimes a break, then sit and review it yourself, decide what you want and go hell for leather can get results.
Don't know what else to say really other than if it were me, and everyone was buck passing, I would head for the top paper shuffler, find some NHS guidelines that have been breached/mis-interpreted, and ask for a meeting to see how they are going to offer the joined up service that is required.
Well done to your DD Midnight - bet you're all chuffed. Are you going to celebrate tonight?
Moose - why can accidents never happen at the end of a holiday - is there some kind of unwritten rule that says it has to happen at the beginning? Sounds painful - but I'm not surprised it has gone largely unnoticed at home - we are, after all, the unnoticed!

moosemama Thu 23-Aug-12 17:25:12

I know auntevil, I spent the best part of two weeks trying not to complain and either being left in the camper while everyone else went off and had fun or hobbling around trying to pretend it didn't hurt. hmm Poor dogs only got two proper walks as well (one of which was when I fell down the blooming hole).

I have a thread in General Health now asking for advice about where to go to get it checked out - it's not an emergency, so a&e not really appropriate and we don't have an MIU. It would be a bank holiday weekend as well wouldn't it and I am on a BIBIC course tomorrow, so can't get it seen then anyway.

Apologies for grumpy posting. blush

I am going be taking a break am concentrating on paying for Next yeArs holiday then once that is paid will review what next

Going to fire fight the other stuff , luckily his new statement is pretty good so just need slight adjustments , meh Physio /ot be sporadic and see what paed says in December

Though I shall be asking some tough questions at conference on few weeks grin so ladies of you can think of any let me know

I am not at all caught up with anyone's news sorry except I read about THC.

THC I so understand how frustrated you are with drs consultants and pct trusts. My gut feeling is before you have a well deserved break you should write to Prof Grahame...tell him what has happened, remind him about the locals referring to GOSH because they couldn't cope, GOSH discharging because of complications, seeing him privately and him referring to Dr Ninis. Tell him as a single mum you can not afford to go privately, that ds continues to collapse regularly... and ask him where you go from here and if he can help. It is only one letter and I think it might make all the difference.....worth a shot.

I am excited at seeing you at the conference in a couple of weeks.....we could try and tackle some drs with questions together!!!!!

Will try and skim back to catch up now.

Midnight - congratulations to your dd for her results. I am glad she got what she wanted. She has done really well considering the time she has been having!

Well done midnight dd

Yup sparkle I shall do that and when the official letter comes out from Dr ninis re the trusts descion I am going to write back sending all the information I have and try and reverse their desvion

I was upset yesterday but better today

ANC yup can't wait to meet you am looking forward to it grin

auntevil Fri 24-Aug-12 11:05:49

What a formidable team - THC and Sparkle - it should have the Drs quaking in their boots! Well, not exactly quaking, but alert!

thc - can Dr N prescribe still? (for out of area people I mean). Only what we want is a review of medication, and something in writing for GP to carry on with, but I'm guessing that would need regular follow-ups which presumably would now be a issue.

My plan (if we have the same problems) is to go back to Prof G and try again.

I'd think you might be best letting him know what's happening, as he needs to know if he can't refer people on to Dr N any more. He ought to be able to come up with an alternative for you without the expense of another appointment.

Will have a think of some pointed questions for you and sparkle to ask.

DD says thanks for all the congratualtions (even though you're all imaginary in my computer wink).

auntevil Fri 24-Aug-12 13:56:03

Sitting here suffering from paranoia (doesn't help we all have the dentist in an hour and a half grin ). Does anyone here suffer from burst blood vessels a lot. I keep getting them in my hands. I have a very purple finger at the moment. They just appear, no event seems to proceed them.
The paranoia is that everything keeps coming back to hypermobility, reality is probably more like the fact that I'm getting older and these things are just likely to happen more often.

aunt - my ds regularly gets burst blood vessels in his feet, particularly in his smaller toes, usually following having walked for a bit (like going shopping in town) The rheumie, physio, ortho surgeon, paed and poditrist say they don't know what it caused by, they just say it is vascular. Our gp says it is caused by the bones in his feet moving cos of eds, stretching and collapsing the joints and then catching the blood vessels and putting pressure on them causing them to bulge and bleed. Makes sense to me.....but not a "proper" dx.

It is one of the things I would like to try and ask about at the conference....ask other parents and sufferers if they have this too.

THC on the subject of the conference, I have had a letter confirming, and asking me to fill in and return a questionnaire but nothing else, no further details yet.....have you got anything else?

auntevil Fri 24-Aug-12 16:48:53

Must be paranoia afternoon in the evil house.
Just come back from the dentist (told off again for the amount of diet coke I drink blush
Then the dentist asks me how long I've had problems with my jaw - clicking and moving. Well this is the first I've heard about it. He made me open and close my mouth a lot - and I still couldn't hear it blush
Then, tells me DS1 is likely to need a brace. I said - he's still young(9), I thought he'd grow to fit his teeth. He said unlikely as he has a small jaw and lots of teeth (this is making our whole family sound weird - we're not, honest!).
What it did do was make me think - I've seen that and hypermobility linked before.
I thought he would be like me and grow into my teeth, but apparently it doesn't look likely sad
Anyone else feeling 'weird' today - clicky jaws, purple fingers and too many teeth grin

I have a clicky jaw, and had too many teeth (flashbacks to being 10 and having horrendous reactions to the general anaesthetics, and the smell of dentists surgeries). I also used to have poor circulation, ad it was a running joke how cold my feet always were.

So you're not the only weird one wink. Only DD3 has inherited my teeth, DD2 has her dad's small neat ones, DD1 grew into hers without needing any treatment.

moosemama Fri 24-Aug-12 20:17:53

auntevil, I get small blood vessel bursts on my palms of all places. Have also had larger bursts on my eyeball, forearm and shin - none of which were caused by any particular incident or accident.

I also have a clicky jaw. First thing I do every morning is click it back into place, as lying with my head on it's side on a pillow pushes it out of joint.

and

I had to have four upper and two lower teeth removed as a child due to overcrowding (read too many teeth for the size of my jaw).

Fortunately the dcs seem to have inherited dh's teeth (and his toes, which is also good as I have really bizarre extra long second toes, which aren't exactly hammer toes by still bend really oddly blush).

Still haven't been to A&E, but finally got through to my GP who told me to straight to A&E rather than seeing them first. Couldn't get there today, so am going first thing tomorrow morning, hopefully when it's quiet.

auntevil Fri 24-Aug-12 22:27:43

[can't quite think what emoticon I need] at the long toes! DH has really long toes - and I mean REALLY long. So much so that I have suggested that he learn to write with them - they're more like fingers.
That's what I love about this thread. Clicky jaws, random bruising, too many teeth and extra long digits are all the norm. Home from home grin

TeamGBsometimes Sat 25-Aug-12 12:28:26

Dd1 saw her paediatric cardiologist yesterday, and is being transferred to a connective tissue specialist clinic. She's doing very well at the moment, and has no problems with her heart apart from mild MVP. Her cardiologist had been concerned about her aorta measurements in relation to her body size. Now, her body has grown but her aorta is stable, so her insides are now in proportion to her height and weight.

I'm glad that I stood my ground and refused for her to be put on a betablocker at age 9. She has such low bp, that she would have felt awful. The consultant was annoyed with me because I had taken her to another doctor last year for a second opinion. She had said that her heart was in proportion to her body, and no medication was needed. I think he decided to discharge her from his clinic for that reason. He's a top cardiologist, and not used to questioning pita parents like me. He said that we were getting mixed messages from seeing too many other doctors before he scanned her. After he scanned her and got exactly the same results as the doctor last year he seemed to forget about the mixed messages hmm.

Sorry, a bit of a rant. I'm very pleased that dd1 is doing so well. However, what wasn't so good was how upset she felt after the appointment. The consultant did address all his questions to her, but she is shy, was stressed and clammed up. She does need to learn how to stand up for herself with HCP's, but she is only just 12 and this takes maturity. I'm only learning how to do this at 39 and three quarters! So I had to answer for her sometimes, and afterwards she said that she felt like a piece of meat sad.

How do other people's teens and pre-teens cope with hospital appointments and doctors?

Although she is a healthy child, I did feel quite guilty about her feeling like this about a condition that I have given her. Anyway, it looks like she will be put forward for the irbesartan trial. That will mean more checks and yearly blood tests. She won't like that, but does like the idea of the double blind trial and being in an experiment.

TeamGBsometimes Sat 25-Aug-12 12:37:23

How do other people's teens and preteens cope with hospital appointments and doctors?

TeamGBsometimes Sat 25-Aug-12 12:37:48

Oops ignore last post!

DD2 relies on me doing most of the talking (which gets some funny looks as she's 14 and ought to be doing it herself), but after everything she went through last year she has problems with doctors until/unless they prove they listen, understand and believe her. She likes me to have researched what's likely to happen at each appointment, and to be there almost literally holding her hand until she calms down with each new person. Which does have me marked down as Over Protective Mum I'm sure, but general medical people are understanding when I explain about Rubbish Paed, and how we're DIYing it alongside GP and not hospital.

She got very down about the whole thing around 6 months ago, but now knowing that what she has, has a name, and that other people have it, she's a lot happier (although thc's news about Dr N was a bit sad). She's actually been able to read up a bit online about PoTS which she refused pointblank to do up till now.

I've found that saying upfront that doctors and appointments make her stressed has helped, as generally the doctor in front of you wants to be the Good Guy and not be yet another useless doctor wink.

I think was has helped DD come to terms with it is time, a diagnosis, and people not freaking out when she faints (so educating school, friends, family as to what to do). Also having learned the hard way that she has control of her symptoms (if she doesn't drink enough water one day, she'll feel rubbish/faint a lot over the next two days), and having the confidence to stand her ground with a couple of very unsupportive teachers.

Basically her attitude now is "I'm DD2, I have PoTS, it's rubbish, I drink lots of water and go to the loo all the time, if I faint, don't fuss at me, I'll be fine" and then move on the the next thing. Not that she doesn't take advantage ("no I can't unload the dishwasher, I'm iiiiiiiiiiiillllllllllll", also I "let" her not do school swimming - grim outdoor pool - last term). And me having the confidence to let her do stuff and not fuss much means that she has more confidence to do stuff.

I seem to have gone on a bit, sorry grin. But maybe some of this will be useful for others in the future, as a dealing with a teen with on ongoing condition is different to a younger DC, and I think most currently on this thread have younger DC?

I also refuse to feel guilty about her EDS coming via me - any bad stuff is more than counteracted by the brilliant parenting I do wink. Honestly, if it wasn't that, it would be something else, and I can look back now and see that all the stressing I did with DD1 actually made no difference to how she is now at nearly 19 (we had a horrible couple of years at the end of primary school which in retrospect were entirely down to unrecognised and unsupported G&Tness). So I'm not feeling guilty, and have tried hard not to stress might not have actually succeeded in that but i've tried as IME it doesn't help. All we can do is make the best of what we have.

TeamGBsometimes Sat 25-Aug-12 13:47:43

I know what you mean about guilt not be a useful emotion. I've always tried to protect her. When the doctor said that her heart was looking good, she asked if that mean't that she no longer had Marfan syndrome. It was tough explaining that this wasn't the case.

Aunt

Ds1and ds3 have it and it's linked to EDS , ds1 has option of surgery but is major and needs stop growing first

Ds3 truth I suspect surgery be on cards but will see

Sparkle I not had much more other than confirmatio. Of having paid I'm hoping it comes soon as it's not long now but know the main lady is away to Thursday ) hehe shame can't hide you on my room for the extra day

Teamgb

Ds2 Even at 15 Wont talk much especially when it's female Drs and Hates when they start asking what je does what does he like to I'd better with male Drs

Midnight you may be ok as your already on the books it is the trust being funny rather than Dr ninis

She is talking to paed and seeing if there is another way to get Ds to her but will wait and see what happens

auntevil Sun 26-Aug-12 10:23:38

Bad parent here. I prefer at the moment to do the talking for DS1 - and the younger ones.
Unfortunately/fortunately at the age of 9 (nearly 10 - slightly more than the 3/4 of a year like Teamgb grin - loved that by the way!) DS1 says it like it is. Now this can be good, but it can also be very very bad. He has been known to ask why if they have spent sooo long studying they have to wait and see, why don't they just know. (to his paediatrician!) She said about confirming suspicions etc, he replied that it was a complete waste of both of their time in coming (can't think where he had heard that expression before blush ) Thankfully she found it quite funny - as it was clear that I hadn't prompted him.
So in general I tell him to button it unless a direct question is asked. Factual information, how often, when started etc I always try to answer.
I also think he picks up on the vibes I send out. Some professionals he sees I think are great, some I think are a complete waste of time grin I think he can tell and plays up.
DS2 is 7 - doesn't even answer direct questions - just looks at me.
DS3 is 5 - they hardly ever ask him questions

TeamGBsometimes Sun 26-Aug-12 10:56:14

auntevil, your ds1 sounds brilliant. I think that doctors probably like kids that are spirited. If you don't like children, surely paediatrics is not the right place for you.

I wish that my dd wasn't so painfully shy with doctors. She uses the same method as your ds2 - ignoring the question and looking at me. She's not shy at home, but is in situations which are not comfortable.

Yup ds2 when knows people is sociable and wicked sense of humour

But he has now decided that now he knows what the cause of his problems is which was his biggest thing as it's gastro rather than joints that he rather just leave it other than the cardiac screening

So at 15 have to respect his choice AND tbh dont blame him

Will have to carry on fighting and pushing for ds3 as sure there is su much more behind his issues whether they are linked to EDS or not don't know yet

They given up asking ds3 now az they realise hd younger than his age and does not understand and odd few times he answered something they had to look for me to translate

auntevil Sun 26-Aug-12 17:47:09

Be afraid - be very afraid - DS1 wants to be a Dr. Can you imagine a blunt Dr who says it as it comes into his head - isn't that 'House'? grin
Our friend (aspergers) is a Dr - medical research (thankfully), who says himself that he could never work with people as he would want to say what he thought.
Although, tbh, I think I would prefer to be told the truth in an unadulterated way rather than pussy footing and best case scenario.

Aunt

I much prefer Drs go be like that , fortunate my spinal one Is as was Physio both blunt and saved a lot of heartache

Sparkle

Am going to chase up next week but think The main lady away till Thursday

But think main thing is to bring the payment Thingy proof lol I hope so or be sleeping on park Bench on Fri night
May phone hotel/conference centre to

ettiketti Mon 27-Aug-12 05:33:04

Checking in again, it takes me so long to follow the thread as I'm still working acronyms and who .is who, that I've forgotten what's what and as I'm.on my phone, its virtually impossible to scroll while posting....but well done on the exam results and did you get any help for your injured ankle ??

We have a physio appt on 6/9 for my DS. Should have been this well but we are away. No news on Consultant appointment, so will see what physio says initially.

Weird coincidences on reading recent posts are DH has VERY long toes, we call him monkey toes, and the curved-when standing-legs, I have a clicky jaw, eased a bit using a mouthguard.

THC - Well if we can't get further than the park bench you are sleeping on I will come and see you there!!!!wink I will give a ring too after Thursday.

My ds is also 9, he tends to clam up in appts, asks me to answer questions, although he will do it sometimes. He has had a tendency to not tell them the truth in appts to get out faster, so I had to be really hard with him about that. He seems to have given up on climbing on my knee and falling asleep in consultations now....which was the ultimate avoidance technique.........talented my child.

Sparkle hopefully hear tomorrow but have just been brought my train tickets ,and booked assistance , I'm wondering if a small dicatophonr might pick up the talks or if there be transcripts available ( thinking of you other ladies might be handy )

Feeling bit more pistons have decided bugger it at the moment and enjoying the break from it all and not chasing

Though do have a repeat ECG recording to be done as it's shown up few things but am doing the well ball in their court and concerteating on making sure new school get it right

Can't believe we've dropped to page 2!

Anyway, went up to St Marys today to see Dr Ninis. Thankfully she's agreed to see DD on an ongoing basis, so she will write to the Brompton and officially take over from them. She was very impressed with how well we've managed to navigate the system, and get to where we currently are (which I put down to being bolshy, but is also because I am very good at navigating health stuff on the internet). She gave up lots of tips to help the fainting and dizziness (raise the head of the bed, drink a pint of water before getting up, some ankle exercises to do), and explained the whole autonomic dysfunction stuff a bit more (basically DD will always be really sensitive to anything which affects the autonomic system, and generally any symptoms, or worsening of symptoms, will be sign that she's not treating her body properly - so stress probably was behind her vomiting earlier in the year, and while that needed to be treated medically, she also needed to deal with the stress).

She's very impressed with DDs school and GP (they'll do what they're told, but need it in writing), so she's made a list of things we need (boots for school, she suggested a podiatrist to look at her feet and ankles rather than just physio), and is happy that we're not seeing Rubbish Paed grin.

We were with her for almost an hour (which in the NHS is gobsmacking, and I do apologise to everyone else on todays list as you were all delayed because of us smile), receptionists and nurses very pleasant, waiting room was your average hospital paediatric outpatients department, mainly geared up to smaller DC.

Dr N wanted to see us again in 3 months, but the next appointment was January, so just over 4 months. IME that's not bad really. I pointed her to the STARS website to see what they're saying about PoTS, as she hadn't come across them before. She seemed quite nervous about the EDS conference, so be nice to her there folks! Maybe have some nice easy questions for her to answer wink.

auntevil Wed 29-Aug-12 16:45:10

Midnight - so good to hear a positive story. Shows that hard work and persistence (I like the word 'bolshy' as well ) pays off.
THC - I used to use a dictaphone at large important meetings - particularly if I had to write the minutes (don't miss that bit). I found that on the whole, it didn't pick up anyone at a distance, and only well from those closest. So I suppose if you're close to someone good, otherwise it picks up a lot of background. Have you tried it out?

Midnight we still not had our refusal letter yet , know secretary asked for payed details so Dr N can talk to paed

Did say we seen genetics and cardio and Ot and Physio and orthotics and he has statement so it's looking like we may go after all

Lot I think depends on Cardio as it does seem he has a problem with his heart that may or may not be linked to pots we have to have a longer trace done

Erm I'll be nice but I admit I have some tricky questions to ask various Drs a lot centred around lack of support and information for parents and even more so when your child has complex needs as everyone likes to pass the buck

auntevil Thu 30-Aug-12 09:55:21

See that's when you need the dictaphone THC, when you get to ask a pertinent question, preferably 1-1, then record it, then type it up for us on here! grin

I was being a bit tongue in cheek about being nice, as Dr N was really quite nervous about the conference wink.

Could you ask something along the lines of "why does a parent (or indeed a patient) have to be pretty bolshy and forceful to get doctors to accept that actually people (and in particular children) DO actually have pretty rare conditions? Yes, you need to exclude the more common things first, but when you're left with only one thing it can be (in our case, PoTS which has a pretty straightforward diagnostic test which can be done in a GPs surgery and takes 10 minutes with basic equipment) why do doctors persist in saying "no, it can't be that, children don't get that", or "no, it's very rare". What do those doctors do with people who haven't (or aren't able to) educate themselves as well, or feel that the doctor must know best? For example, if I hadn't been a pushy nightmare, DD2 would have been in a psychiatric inpatient unit for a good chunk of this past year, entirely due to the paed having made his mind up what was wrong before he even saw her.

And it's precisely those type of doctors who are difficult to reach with any kind of educational programme, as they don't think they need to know more, or think differently (I see this with another medical condition - the charity I work with have a medical education arm, and it can be a real struggle to get GPs to even look at information you put in front of them if they've already decided they know what's what).

Maybe a query which can get someone to set out the pathway through the NHS we should be following if we suspect our DC has EDS/whatever. So GP -> rhemy paed/general paed -> specialist? And if so, which specialist?

And (i'm on a roll here wink) can the medical people please realise that schools are a lot happier to provide the help needed, IF they get it in writing, so the consultant needs to do that as part of their report back to the paed/GP. And generally letting DC have a diagnosis of a named condition makes things less scary for schools and teachers, and that makes it less stressful getting support in place.

Feel free to cannibalise any of the above (also am happy for you to mention the psych inpatient bit as happening to a friend's daughter - rather than an internet sprite wink - as thats' quite a shocking state of affairs now that I look back at it, and MAY get across to doctors that what they do or don't do has a massive affect on all sorts of things, not just the actual symptoms they're being presented with).

auntevil Thu 30-Aug-12 11:09:41

Totally agree with you Midnight.
How do consultants get the message to dyed in the wool paeds, who don't appear to keep up with new information?
In writing a letter to the GP re links between hypermobility and IBS - which my paed doesn't believe - I found a useful link on.......NHS website!! biscuit
How are they going to get their diagnostic criteria through to this type of paed - and there are many of them.
I also agree that it fills me with fear that we are the educated stroppy bolshy brigade. What the hell happens to those that aren't? Years of unexplained pain etc etc.
There should also be diagnostic criteria in A&Es. Surely if a child keeps going into hospital with repetitive sprains, dislocations etc etc, there should be a diagnostic tool. My DS has been to A&E 5 times in the last year with the same joint. We have never had any referral anywhere else. I am honest with them. I tell them he is hypermobile, who his paed is etc, and they ignore it and send us away each time. I don't even get a follow up with the GP/School nurse etc
Schools should also be very aware of do's and don't's. In my DS's school, the teachers regularly 'teach' yoga. DS can barely move afterwards. The teacher puts on a dvd and goes through the moves regardless of ability.
I'm thinking that for all people that are dx or suggested that they are hypermobile, that there is a checklist of other symptoms. This should be flagged on your GP's system. It may be that they have been to the GP with individual symptoms, they have not been joined up, and a dx is missed.

elliejjtiny Thu 30-Aug-12 13:44:36

Hope everyone is enjoying the paralympics. DS2 watched some of the swimming with a puzzled look on his face and then asked me why they didn't take their wheelchairs in the pool!

auntevil My DS2 quite fancies being a dr. He wouldn't be able to dash off if someone bleeped him so he'll have to be like one of the drs on casualty who ignore their bleepers and go and have a long conversation on the stairs with someone they had a one night stand with the night before grin. The geneticist asked DS1 if he wanted to be a dr when he grew up and he said he'd rather be a transvestite grin.

midnight glad you and your DD had a successful appointment.

THC Hope you get answers to your questions at the conference. I had a dictaphone at university because my hands don't do note taking very well (because of dyspraxia and eds) but it didn't pick up much so DH used to scribe for me.

auntevil Thu 30-Aug-12 14:08:48

ellie - I am liking the sound of your DS2. He makes some fair points, although I don't see why he can't be both a DR and a transvestite grin
DS2 hasn't quite got the gist of the paralympics - and he's going next week, so I hope he understands pdq. He said in the swimming that it must be easier for the swimmers with no arms and legs as there's less of them to swim through the water. By default he then said that the olympians must have had to work harder. Errm, other way round DS2! blush - although they all work hard (disclaimer)
Does anyone know if there are any athletes with dyspraxia/EDs/PoTS etc? Are they even eligible?

Dyspraxia and pots no not eligible there's several categories of levels and tbh I don't even think Eds is eligible as physical stuff is based on limb or body movement eg spine injury level or amputee and where

Or brain injury , or Ld

elliejjtiny Thu 30-Aug-12 19:01:32

I found this on the paralympic website:

The Paralympic Movement offers sport opportunities for athletes that have a primary impairment that belongs to one of the following 10 ‘eligible’ impairment types:

• Impaired muscle power

Impairments in this category have in common that there is reduced force generated by the contraction of a muscle or muscle groups (e.g. muscles of one limb, one side of the body, the lower half of the body). Examples of condtions included in this category are para and quadriplegia, muscular dystrophy, post poliomyelitis, spina bifida.

• Impaired passive range of movement

Range of movement in one or more joint is reduced in systematical way. Note that hypermobility of joints, joint instability (e.g. shoulder dislocation), and acute conditions of reduced range of movement (e.g. arthritis types of impairment) typically will be excluded as ‘eligible impairment’.

• Limb deficiency

There is a total or partial absence of the bones or joints as a consequence of trauma (e.g. traumatic amputation), illness (e.g. bone cancer) or congenital limb deficiency (e.g. dysmelia)

• Leg length difference

Due to congenital deficiency or trauma, bone shortening occurs in one leg.

• Short stature

Standing height is reduced due to aberrant dimensions of bones of upper and lower limbs or trunk (e.g. achondoplasia)

• Hypertonia

A condition marked by an abnormal increase in muscle tension and a reduced ability of a muscle to stretch. Hypertonia may result from injury, disease, or conditions that involve damage to the central nervous system. When the injury occurs in children under the age of 2, the term cerebral palsy is often used, but it also can be due to brain injury (e.g. stroke, trauma) or multiple sclerosis.

• Ataxia

Ataxia is a neurological sign and symptom that consists of a lack of co-ordination of muscle movements. When the injury occurs in children under the age of 2, the term cerebral palsy is often used, but it also can be due to brain injury (e.g. stroke, trauma) or multiple sclerosis.

• Athetosis

Athetosis can vary from mild to severe motor dysfunction. It is generally characterized by unbalanced, involuntary movements of muscle tone and a difficulty maintaining a symmetrical posture. When the injury occurs in children under the age of 2, the term cerebral palsy is often used, but it also can be due to brain injury (e.g. stroke, trauma).

• Vision impairment

Vision is impacted by either an impairment of the eye structure, optical nerves or optical pathways, or visual cortex of the central brain.

• Intellectual Impairment

The Paralympic Movement identifies intellectual impairment as “a disability characterized by significant limitation both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. This disability originates before the age of 18” (American Association on Intellectual and Development Disability, 2010). The diagnostics of intellectual functioning and adaptive behavior must be made using internationally recognized and professionally administered measures as recognized by INAS (International Federation for sport for para-athletes with an intellectual disability).

It says that hypermobility isn't included in one of them. Maybe the ataxia category would work for the dyspraxia.

yup i suspect it would not even cover ataxia as thats seen as something that can detoratiate often has a brain cause

even with musce hyptonia ds be ruled out as they can not pinpoint the cuase

and though short stature yet again as far as we know it is not one of the recognised condtions for being hort stature he is just short reason unknown

good job he does not want to be paraoumpic then

sparkle

did you get hold of EDs from when poke yesterdya they are hoping paperwork but have list of rooms and people attending

THC - just spoke to Lara Bloom, the conference info is going out today or tomorrow apparently. Totally unreasonably excited to be seeing you. Shall raise the question about fudgy dx and certain drs not recognising established links with eds, like pots and ibs, and how parents are supposed to navigate such a system. Got lots of questions about ds, neck and feet in particular....not sure will get a chance to ask anyone but will try.

auntevil Mon 03-Sep-12 15:05:20

Even more unreasonable to be excited that you're both meeting - and are going to bring back tons of info for the rest of us grin
Particularly interested in establishing links - and why there seems to be no clear advice

Yeah other day she said 5 on Friday check in but hotel told me can get in room from 5pm so give me chance check in and have a rest

Can't wait to meet you been a long time coming grin

THC - Is you mum taking care of the kids?

Aunt - you will be with us in spirit!

Sparkle yep and my older two will help . I'm even going to enjoy the train journey in peace with no mummmmm . It has been a long 6 weeks think I had maybe hour or do to myself in total << knackered >>

Not taking dc as ds3 needs 1-1 due to other needs which would defeat object of me being able to listen

I'm worried as think he has gastro issues we know he struggles weight wise and eating is hard work due to eds and the verbal /oral dyspraxia .

But the delayed emptying has come up feeling we may be heading for some tests

auntevil Tue 04-Sep-12 17:29:07

Interesting about delayed emptying. DS2 has incomplete emptying, and very little muscle control as to when. He's due to go for anorectal bio feedback in November (I think- or September, I lose the plot a bit with the 3 of them all having appts . I know the dates, just forget who has what with who. ) He eats like a horse though, but is underweight for height and always has been. He's a boney boy.
Are you going to be asking questions about the links?
In fact I'd be interested in the connections with 'food processing' from top (swallowing/chewing) to bottom (enough said grin )

Aunt ds2 has similar issues

Weight gain is definitely an issue for my ds too, he eats quite well, but sometimes pain levels do rather confuse matters and make it difficult to unpick exactly what is happening....

I am not taking dc either....actually want to be able to talk uninhibited by dc, particularly ds listening to critical issues around his care.

grin about Dr N feeling nervous when you think about it....most drs put that kind of pressure on us at every appt.

Nothing in post today...hopefully timetable will come tomorrow and then we can sort out how I can find you on Sunday....your self description not withstanding wink I shall be the once now ex blonde, with the stiff neck (damn subluxing vertebrae) scanning the place for a red head in a wheelchair.

Mine arrived today ) will post details about Sunday in the morning

Yup ds2 eats like mad can't put in weight has ibs

Ds3 not q lot as never really hungry constipation issues but the physical chewing act hard so I gave the two extremes

roundabout1 Thu 06-Sep-12 10:24:15

Hi everyone - a newbie here sparkle told me all about you guys on here. A short history I have a dd2 (2) who for the last 6 months has been experiencing pain in her legs & feet always at night but sometimes clutches her knuckles on both hands in the day time. She's a poor sleeper anyway but since the cramp we have had nights & evenings of little sleep on average 2/3 times a week. We saw a Paed last week who diagnosed it as growing pains but she is hypermobile particularly in her wrists , she can bend them all the way so her fingers are touching her wrists. I didn't know anything about this. The growing pains diagnosis was reached after doing blood tests but was based on the fact that she likes her feet to be held tight when they are hurting or her calfs rubbed if its her legs. Sometimes it looks like proper cramps when you can feel sort of knotted muscle in her calf ^ other times her toes split apart when they are hurting. That was more in the beginning, now it is just pain. Maybe unrelated but when she was 6-9 months she used to scream & go into a spasm with her hips & legs, we saw orthopaedics & they just said she would grow out of it & her hips were a bit delayed in forming. Sorry thats an awful description of what he said but I can't think how to describe it, lack of sleep has led to brain fog today! Indeed that did stop by about 10-11 months old. I have had knee problems since a teen & now have bursistis in one hip too, but wasn't awre of any hypermobility although have found I am on my knees. Will read up on some of the posts later - am off to change a stinky nappy!

THC - my conference details came today....tells me everything expect where it is! The website says Burleigh Court conference Centre 7, is this where you are heading? I will aim to get there for 9 on Sunday morning, so I have time to find you before the first speaker at 9.45, then I can sit with you!

roundabout1 - welcome, I am so glad you came across. Others will be around later I am sure, but just a little back story for you, but don't be alarmed by anybody's back story as hypermobility can be so varied. I was dx with benign joint hypermobility by a rheumatologist when I was 18, after years of dislocating and subluxing joints and having pain most of my early life. I significantly worsened over the next few years, and when I was early 20's my dx was changed to Ehlers Danlos Syndrome Hypermobile type. I had had years on NSAIDs by this point and collapsed with an anaphylatic reaction to NSAIDs. I have wide ranging hypermobility, but in some joints it is not as extreme as others have, for instance I can not bend my thumb back to my wrist. I have a hypermobile spine, and have lost a disc as a result, my hips and knees are severely affected, my shoulders increasingly so. I have significant degeneration of the joints in the sternum causing severe chest pain. I also have inflammation affecting the collagen around my heart and lungs. I have no affects in my digestive system, but I do have a mild mitral value prolapse (a leaky heart valve) neurally mediated hypotension (fast heart rate, low blood pressure) migraines. I live a normal life and have carried three dc to nearly full term. Of my 3 dc, only my eldest ds appears to be affected. It was clear to me when birth that he had eds, he was actually dx by Professor Grahame (the most eminent specialist in this country) when he was about 20 months. He is more severely affected than me, although the hypermobility dx scale often used (Brighton scale, or Beighton Scale) gives him a fairly low score, as it does not measure his most hypermobile joints. He frequently dislocates and subluxes the following joints, cervical spine, shoulders, hips, knees, ankles, toes. He is mildly affected with food intolerances, he has neurally mediated hypotension. He spends most of his days in pain, and takes regular pain medication. He does physio daily which has really helped. His proprioception is very poor, gross motor skills are poor, but apart from handwriting which is dreadful, his fine motor skills are good. He is regularly hospitalised as the nature of his cervical instability is life threatening. The veins and arteries in his feet regularly collapse along with the bones and joints, which causes severe pain, but no dr can currently tell me why.
He used to get the cramps exactly as you described, and his joint pain could easily be described as "growing pains". My ds is quite severely affected, most children and adults with hypermobility are not severely affected, and make great ballet dancers, high hurdlers, pole vaulters etc.

The mums on here have great experiences to share, have navigated the often rubbish medical profession who unfortunately often know significantly less than we do (and I am not being arrogant there...it really is true isn't it ladies)I learn something new every day about eds and hypermobility, which are now considered to be the same thing thanks to the wonderful people on here.

lol Im not even sure where in the centre confenece is but will if can get a signal tomorrow post on here

Ho roundabout

I have 4 dc with eds ds1 e temred dyspraxic but no other issues.Ds endy but has the gastro side but otherwise ok
dd copes pretty well .All of them have problems with handwriting and even dd is now moving to laptop in school

then have ds3 who is more seriously affected but has a rarer form and has suspected chromome issues.
sadly for ages was told he was lazy then delayed and then a bit bendy but as gpt older far from it and now the proffesionals are waking up to it

there hi not Ho blush

Message withdrawn at poster's request.

Message withdrawn at poster's request.

roundabout1 Thu 06-Sep-12 15:10:35

Thanks for the welcome, I'll have a look through those links later. Everything seems such a minefield doesn't it. I spent months trawling the internet earlier this year as dd1 (6) had possible glandular fever although never tested positive & now is diagnosed with post viral syndrome. And I myself have a balance/vestibular problem. Never mind at least all this research would turn us into fab doctors!

Argh that should been as a pm !!

auntevil Thu 06-Sep-12 17:44:53

grin at 'Ho' THC - nice to see you down with the kidz grin

Welcome roundabout
I'm still searching for someone to take up our hypermobility issues sad . I have 3 DS - all hypermobile, like me (DH can be blamed for everything else)
DS1, hypermobile, dyspraxic, SPD, IBS (makes him sound really brainy with all those letters after his name). He keep falling and his ankles are so weak, but I think with the dx of dyspraxia, they just wave it away.
DS2 is the physically sporty type of hypermobile. He has IBS and severe bowel problems.
DS3 has been referred to see OT for fine motor issues, but thankfully doesn't have his brothers knack of ankles going. He has IBS and swallowing, bowel issues.
Sparkle is right when she says that there is some serious knowledge on here. I have found out sooooo much.

bizzey Thu 06-Sep-12 20:53:43

HELLO ALL....sorry went a bit AWOL during the holidays ....where did they go !? We have had busy summer and I have not caught up with everyones posts yet but hoping everthing is alright/ok or bearable!

I wanted to come on tonight as I knew THC and sparkle were going to the conference this weekend and wanted to wish you both a "good" time if that sounds right .

Cant wait for your updates !!!...and I dont mean the standard of the wine !!gringrin

We went to Spain for holiday and ds3(dx) had a fab time in the pool ......with a ring ..armbands and goggles ! but it meant he could keep up and play with his big brothers in the deep end ....he just kicked and floated ...unable to drown !!! and gave him a real confidence boost .

He LOOOOVED the jacuzi though the best ...the bubble pool !!

Conected or not connected I dont know.....but he did not tan ?

All boys were covered in fac 30 and after 2/3 days ds1&2 had short marks (and little white bums !!) but ds3 did not have any "join" where his shorts were on his waist.

Remember now he is a skinny boney underweight one lacking in Vit D...???

By the time we got home he looked more yellowy/dirty than "brown"..??

Legs are still hurting..and he thinks he can swim ! But he has gained confidence in the water ...with his aides !!

I have Genetics next week and comm pead the week after.

ROUNDABOUT ...Welcome I will update my story later ...sorry... ds1 started secondary school on Tues and is calling me about something ...we are both shattered ..the novelty of new school is wearing off !!

Got to go ...take care everyone !

Hehe trouble is ho is not short for hi it's something else .
Have you know can text speak with the best of them . Saves me trying up find some random teen to translate my teens messages

Bizzey

Interesting as ds3 does not tan others do and house ds1 and even more ds2 have a per meant tan due to the Italian side

Yup swimming is very popular here and ds3 loves it but it has to be warm water he does not do cold even in paddling pools

Good luck at Gentics

auntevil Fri 07-Sep-12 09:42:08

We all tan really easily in this house. My DH was known as DH the greek (he's from Yorkshire! ) when I first met him. I blame the amount of time he's either out of the country on business or on the golf course. Me and by default the DSs also have Cornish/Traveller genes - which probably means we are naturally weather beaten.
THC - I'm with your DS3 - I cannot abide swimming in cold water, or even paddling in it! Give me warm/hot every time.

Yay all checked in and ahead of time to ) need to register at 4 but omg the hotel room rather posh but am impressed with the fact their disabled room is big and more so is the bathroom and proper one has a good size wet room

Once know where conference is will let you know sparkle

elliejjtiny Fri 07-Sep-12 16:39:51

My DS's all tan easily, especially DS2 who came back from holiday with a tan despite factor 30 and only going to the other side of somerset!

I'll do a proper summary of my boys various needs later but welcome and wine for now.

DS2 is absolutely shattered but he has been enjoying school this week. He's got his step sorted now for the classroom door and the caretaker is going to install the grab rails at the weekend. The step is metal and makes a noise when you stamp on it so on the day it was put in I watched the class TA trying to persuade the children to come in for the story rather than jump up and down on the step grin.

DS1 had his sports day and came in 7th out of 8 in the year 2 running race and 6th out of 8 in the balancing a beanbag on a bat race. He has mild hypermobility so he did really well and I was very proud. The children who are wheelchair users took part in the foam javelin throwing but me and one of the other mums are going to suggest a wheelchair race next year with either year 6 children or TA's pushing. There will be 4 wheelchair users next year so enough for a race.

THC and sparkle hope you have a lovely time at the conference.

auntevil Fri 07-Sep-12 17:09:19

hope the conference goes well and hope even more you 2 have a good meet up (when you've worked out where grin )

bizzey Fri 07-Sep-12 17:53:00

I wonder if they are going to be wearing a red carnation in their button hole !!!grin

auntevil Fri 07-Sep-12 19:09:45

I think it should be much more clandestine than that! Like all those spy spoofs where they have to say something like ' the skies sparkle at night' and replied with ' you can reach the skies if you're a human catapult ' grin

bizzey Fri 07-Sep-12 19:44:57

auntevil..gringrin....cant wait to hear how they meet up ....but I think they might spoil it for us and pm each other with mobile number !!!

auntevil Fri 07-Sep-12 20:10:20

bizzey I just live in hope that some people lead a much more exciting life than me. It's what keeps me going! grin

bizzey Fri 07-Sep-12 20:46:46

My ds 1 has just done his 1st week(4 days) at secondary school...my exciting moment is....making sure ALL the alarm clocks are switched off ready for natural waking .......which might be sunday morning for ds !!!

Hehe would we do

that and yup I know where it is . Been quite a giggle this evening and there be a few tired people tomorrow .

Sparkle come in at main reception and long walk up corridor were right near the bar lucky that grin

bizzey Fri 07-Sep-12 23:28:26

THC...glad it has been good ....handy you met at the BAR!!

Forgot to mention last night I met someone with same rare type as ds3 she was really pleased ( she is 19) as was her mum as they never ever met anyone else
No kids and I'm still awake at 5am

Sobering thing though is seeing how many other adults badly affected by edd and realising that could be my dc in the future and there is more women here than men . Could be that men not fancy it but I would say 90% are female suffers

Aunt there's a few power chair users but I'm the only one with Red hair grin

auntevil Sat 08-Sep-12 10:32:03

Does the expression 'dirty little stop out' ring any bells? I am soooooo envy envy envy envy - wish it was me!
Very jaded view on men and gathering information. I personally think that women are more genetically wired for communication and being able to see the bigger/wider picture. This going back to the hunter gatherer stage. The women didn't know when or if the hunter would return with/without food and had to be prepared with berries and nuts and all to last for not just them but all at home.
I would imagine that this conference for a lot of women is not only about them, but how it will/might affect their families and what they might be able to do - information gathering.

elliejjtiny Sat 08-Sep-12 16:38:32

I think auntevil is right. I like the idea of coming to the conference one day but DH would rather stick pins in his eyes.

grin at ellie's dh and his ideas of fun instead of the conference....I am not there yet, not going until tomorrow...but will be hunting for flaming red hair, power chair, bar and one very determined woman!

THC is the main entrance you mentioned in burleigh court then? I assume if I look out for that I will find it ok...am driving.

I am still in very bad pain with my neck, been 10 days now since I subluxed it, dh is talking about driving me to drop me off at the conference if I can't drive myself, So I will be the lost one, mousey used to be blonde, who can't turn her head properly! Damn...no red carnation.

Hehe goes of to nick borrow some flowers

Yes it's bit awkward to find but once in very straightforward I would ideally get here big early if you can as is very busy will save you a pew

And ladies tonight is a posh dinner , talkers and disco so sparkle I'll be the tired redhead Don't think I'll be in bed early grin

But have to say really good talks today and from what I gather some of the stuff will be available on website for members so when released will -- copy-- on here

Also info should be in next links magazine

Biggest thing I'm taking from the conference is the belief in myself . That we are not a bunch of hypercobdrics regarding our dc and that we are right to fight and question things

And more so there are Drs out there that believe us oh and far more is linked to eds than even us ladies realised

really looking forward to your feedback when you get back. Hope last night wasn't too hard work for you wink.

auntevil Sun 09-Sep-12 15:05:22

Can't wait to see the list that THC produces of the other links with eds.
I bet we'll all look at it and go - 'i've/DS has got that - I never knew!"
Pleased that you're working hard for us as well THC and sparkle - just remember the saying about all work and no play wink

Am on way home and yup we met lol was nOt sure so text sparkle wand waited to hear the bleep

Lots of info and most the talks will be on the members website once in there will share but will also post what we learnt

bizzey Sun 09-Sep-12 21:57:36

Hope you both had safe journey home !x

Obviously THC description of herself was more accurate than mine, as when I turned round I knew who she was instantly! grin Hope you got home safely THC.

Will post more later, in mad school run "heaven" at the moment.

Yeah late home and am about to head back to school

Just to point out sparkle looks far to young to have 3dcenvy

But ladies the next one is likely to be in two years . I would reccomend is very interesting

But I know Airane is London based but not sure if anyone else's bear enough but is talk of EDS Xmas party for members dc

auntevil Mon 10-Sep-12 09:40:18

Sparkle envy at you too - how dare you!
We are London based THC - just never know what childcare is likely, so find it hard to commit to future dates.
Dh once promised to cover a day out - then reneged. I was so angry that he shipped his mother 400 miles to cover instead.

THC - you are too kind....I am 41 and I look it! It was so lovely to finally meet you, and ladies she is just as formidable in real life as she is on here. Did you finally get to speak to Dr. Ninis....after barricading the door so she couldn't get out! wink

Why are you going to the school is everything ok?

Aunt - when I got home last night he was watching the grand prix it was after 6.30 and the children were still out playing looking like orphan Annie, with no tea inside them......hmm Good job I was earlier than expected! hmm So I know how you feel about your dh! wink

The conference where to begin, well THC will have to comment on the Saturday, but for me the friday was interesting; lots about links with fatigue and chronic pain, PoTs, cardiac issues. Have been left wondering whether a referral for ds to Dr Hakim to discuss pain management may be a good thing. Might see how ds gets on over the next few months and then decide.

Actually just realised that I am only 40....just feel older.....been one of those days. Got a dreaded phonecall from school, but about dd1, who had hit a tree at lunchtime and has a gash above her eye.....stitches later, ds is now feeling unwell with high pain levels, dh is away and I am knackered already!

auntevil Tue 11-Sep-12 17:43:59

That sounds horrible for your DD - hope she manages to get a good nights sleep.
Good about losing a year though grin

moosemama Tue 11-Sep-12 18:05:53

Sorry to hear about your dd Sparkle, hope she's ok. It's awful when you get on of those phonecalls from school.

Would love to hear more about the conference when you and/or THC get a chance.

We've been for physio today - and been discharged, because the physio said she doesn't think she can do anything to help, as I know more about it than she does.

Ds is having weekly pilates/reformer sessions, starts swimming this week and we are going to give tai chi a go - well when my broken foot is better. hmm I've also invested in a wobble board and dd and ds have invented a game where he stands on it and she throws all the felt fruit from her teaset at him and sees how much he can catch. grin The pilates has already made a big improvement in his core and his teacher is really pleased with his progress. We had to stop the circuit the physio set him as it caused him excessive pain and without fail he had significantly more subluxes and pain in the following 24 hours.

Other than that he's not been too good. Lots of subluxes and ankle popping and really exhausted, worse since he started all the exercise. He's also been having neck and back trouble and his bowel, constipation issues seem to be coming back. Asked the physio what she thought of all that and she said I should go back to the paed, but I know there's no point.

He had a really funny turn at the hospital this morning and ended up needing the day off. He went dizzy and faint and was white as a sheet. I think it might just be exhaustion, but am worried about POTS as he does have a tendency to have these 'turns'.

On the positive side, his new teacher is lovely. I downloaded the HMSA Guide for Schools and she read it that lunchtime and came back to reassure me that they will implement the recommendations and to say she had told ds to make sure he tells her if he's in pain and if/when he needs a break in PE lessons.

auntevil Wed 12-Sep-12 10:17:52

That sounds positive with the teacher Moose. I would always have a willing teacher over a 'knowledgeable' one. IME, their knowledge means doing it their way or not at all!
Was your DS at the hospital for the physio - or something else? Ds1 goes very pale in certain departments. He goes white as a sheet if he sees blood, or if we walk past someone that has any wires coming out (breathing equipment, drips etc). They call it white coat syndrome - which I honestly thought was made up, but my brother was dx with!
This chucking people off lists is ridiculous - and makes me mad. There should be a new list system. There should be an inactive list. This could be for anyone that couldn't be helped at the time, but also shouldn't be dropped as input could be required at any time. Then you could phone up, get an appt - even a cancellation, without having to wait forever. Does this statistically mean that they have completed treating a child? How can they say that treatment is ever complete with a life long condition? - Surely it will always be ongoing, and you should have access to medical input (however lame) whenever required.

moosemama Wed 12-Sep-12 10:45:26

He was just there for a physio follow-up aunt. He didn't even do any exercises and it was in the physio department, so no scary equipment or anything. Mum took him for his pilates/reformer session on Monday evening and apparently they did a few extra reps and added in some new exercises, so I'm wondering if they just pushed him a bit too far and he over exerted himself.

He was a bit pale and wan for the rest of the day, but we got him into his PJs when we got home. He lolled about rested on the sofa with his duvet all afternoon and was well enough to go out to tea. (It was a planned treat while ds1 is away on a school trip. We don't get to eat out much as it such a pita finding places that do vegetarian, coeliac food.) He's gone back to school today, still a little pale, but ok and wanted to go in.

Physio basically said there is no treatment for it - it's down to him/us to make sure he gets and stays fit and that's that. hmm To be honest, there would be little point in staying on her list, as she knows nothing about the condition anyway and we had to stop the exercises she gave him because they were making him worse!

I have a question while I'm here. Swimming - I have read different opinions about swimming and BJHS. One is that swimming is good, as it's non-weight bearing exercise. The other is that it's not good as, because of the water support, children tend to over-extend their joints while doing the necessary movements for swimming. I know water based exercise (as in wading and moving around in water is good) but am now confused as to whether or not actual swimming is good. confused Ds is due to start swimming with the school next week and his teacher has asked for some advice and information.

auntevil Wed 12-Sep-12 11:18:02

DS has physio next week - so I will ask. Paediatrician seemed to think all non contact sport was good, although had a dodgy idea that he should just 'support' his weak joints.
DS1 is swimming today at school confused - so I hope he doesn't come back with any problems. He is also doing Hi-5 after school (netball - but it sounds too girly!). Thing is, DS doesn't complain of being in pain, but does damage his joints on a regular basis. As a mum, I'm caught between the devil and the deep blue. I want him to be fit and healthy, and he would naturally gravitate to electronic toys, but neither do I want him to permanently damage his joints (as I did). There is a chronic lack of knowledge and support out there, but until he spends more time sidelined, or complains of pain, I am going to keep him active. he still has football and golf to go this week!
An aside to this is how many top sportspeople are hypermobile. I think if managed, with no other extenuating factors (EDs, PoTs etc) sport is easier for them. DS2 is in this category. He's an original apeman - swings and bounds around. He plays football in an older age division, and has been earmarked as one to watch at the golf club, with a swing way above his age (he is 7 - he can drive a similar distance as a woman).

Agree re the being good at sport - DD was on course to be very good at trampolining (she had the best pike - where you fold over flat from the waist - in the south east [proud mum]) until her coach refused to train her "in case she fainted while somersaulting", and then Prof G confirmed it was especially horrendous for her joints. Swimming and cycling were both recommended as good form of exercise (cycling especially good for PoTS as it builds up calf muscles). Also dance (including ballet) was on the approved list, but to be careful about over extension - this is presumably easier for DD as she's a bit older and can understand why.

Moose - I think like all things a little bit of certain exercises is fine. My ds has really enjoyed swimming, but he has a list of strokes he must never do...the support of the water makes him far likely to sublux certain joints, therefore the physio and the rheumie gave us very clear guidance.... No breaststroke arm or leg movements as ds very hypermobile in hips and shoulders. Front crawl only if chin remains in the water at all times, to avoid him hyperextending his unstable neck....anything on his back is fine. What i would do is have a think about which are your ds' weaker joints and how each individual stroke might affect them and add them to his care plan to say not to do them.

angry over physio discharging, although I appreciate she probably knows nothing anyway. Our physio for ds is super, she sees him on a regular basis, and we adapt and change physio programme based on how he is doing. When he is going through a good patch we see her every 3 to 4 months, when he is struggling more, we see her more regularly. It should be adaptable like this!

mycarscallednev Wed 12-Sep-12 16:33:31

Hi guys, sorry been away all summer - had a crap one, lots of issues with ds health and all the EDS related stuff - things getting worse not better, more dx but still no management plan from GOSH a list big enough to fill an A4 sheet, but still 'off you go then, it's too complex for us, carry on with Home Ed because we also don't want to help you find a school' - that sort of thing....and my darling Dad passed away, the Leaukeamia just couldn't be controlled any more........ but we did get high rate DLA, so will need to name change as sold Nev.!
As for swimming we were told no breaststroke and to use an aid for his core, so we use a swim-fin. He can't float due to not being able to stabilise his hips, his lower body just drops in the water. He sort of treads water, but loves it anyway.
Sorry, just read this - what a mizz, hope everyone here is ok, or as good as it gets! Lots of love and hugs everyone x

moosemama Wed 12-Sep-12 16:42:10

Hmm, ds2 isn't a natural sportsman at all, but then I wouldn't be suprised if he turns out to be borderline dyspraxic at his OT assessment. He still can't ride a bike and struggles even with stabilisers.

I was really good at gymnastics at his age, but my mum stopped me doing it after her friend warned her that it can cause permanent problems if done excessively too young. I was also into speed skating and horse-riding and was pretty good at netball, as well as loving swimming and diving. Incidentally, I was told not to skate, ski or horse-ride by my paed when I was a teenager. I'm still not 100% clear on what they were thinking was wrong with me at the time, but I was told that those particular sports would put too much strain on ankles, knees and hips. Of course I then proceeded to do both skating and horse-riding to excess!

Sparkle, interesting about the specific swimming strokes. Ds has just started to have trouble with his neck and is very 'loose' on his shoulders and elbows. Paed also said 'significant laxity' in hips and described his ankles as the worst affected joint.

As for physio discharging. I get the impression that there's just no-one who has a clue what to do with him and that's why they want shot of us asap. angry

Oh Nev - I am so so sorry about your Dad, and ds having such a rotten time. After the conference THC have come away with the impression that a certain medical establishment is not a good place to go for eds related things. We didn't meet a single parent who was happy with what they were being told, and I think I am right in saying that very politely and professionally most of the conference speakers, supported parents views as opposed to those expressed by a particular medical establishment in terms of management.....am I right in that THC?

Moose - dyspraxic type poor proprioception combined with poor core muscle strength are both found in EDS hypermobile type. My ds has both these in spades, but he does not have dyspraxia, and none of the processing elements of dyspraxia. One of things I picked up on sunday when the consultant discussed EDS, Chronic fatigue syndrome and Fibro, is that if patients do not have all three, rather they have EDS and that produces symptoms of the other conditions in some patients. I think that this may be the same for EDS sufferers who have dyspraxic physical symptoms....does that make sense?

moosemama Wed 12-Sep-12 19:19:03

Nev, crossed posted without realising it earlier. So sorry to hear about your Dad. Last thing you need is the hospital being evasive in terms of support as well. I have read a quite few .... ahem - interesting - things online about people's EDS related experiences at that particular establishment recently and none of them good.

Sparkle, I have long considered there might be something more going on with ds2 than just the hypermobility. He seems to have some sort of auditory processing delay, has some dyslexic type problems with letters and numbers (albeit fairly minor) and also some issues with his speech in terms of not being able to select the appropriate endings and tenses for words (eg I buyeded it at the shops, etc). None of it has ever been bad enough for me to seek out formal assessment, but I recently attended a Bibic course and a lot of what they said rang alarm bells for me regarding ds2. Which was a surprise, as I went to the course with ds1 in mind. confused

Moose - remind me how old ds2 is, cos some of that could just be normal developmental stages....<as sparkle desperately hunts for links to reduce moose's stress levels>

....cos my very able dd1, still says things like "oftenly" for often and others and she doesn't have eds or anything else....it iks just cute! She is 7. wink

is not iks

auntevil Wed 12-Sep-12 20:41:00

Hugs and HONK for you Nev. There is never a good time to lose a parent - but specially when things are the shape of a pear at GOSH. I hope you keep focussed with all the happy memories of him. Are you going to name your new car after him?

Interesting about the hips not stabilising for floating. Apparently it was the one thing that DS couldn't do today at his swimming lesson.

DS1 is dyspraxic and I kind of get what you're saying sparkle. There is so much co-morbidity on symptoms it must be quite a minefield to dx. On the other hand, I also think it is lazy for them just to assume all symptoms relate to either a dx of condition a or condition b. DS3 is also likely to have an OT assessment for his motor skills too sad

DS1 is nearly 10 and still gets his tenses confused - but then he still gets he/she muddled up too!

mycarscallednev Thu 13-Sep-12 09:51:03

Thanks everyone, its been a tough summer, to say the least. Am giving up frankly with 'experts' as they dx you and then leave you to it, we have had years of diagnosis and as yet no management plan from anyone other than the Evelina, but trying to get everyone together to sort this is just an uphill struggle.
Amongst our dx combo's is the dyspraxia/dyslexia one which impacts on the EDS [now confirmed by genetics] and now it's his eyes too. Anyone know about 'visual tracking' difficulties with EDS at all - all collogen linked I know, but?........ this with the dyslexia and dislocating fingers when he writes is just fun, fun, fun when it comes to reading and writing, still more for the AR and the following Tribunal to get him into the right school.
Home Ed time now....... if I can get him off the ipad - still he doesn't realise that we've chosen 'educational' stuff on there too!

moosemama Thu 13-Sep-12 10:25:52

Thanks Sparkle, he's 8 and a half, but the things I've listed are things I've been fairly consistently worried about in the back of my mind since he was in reception year. He told me the other day that sometimes when people talk to him he has to stop and try to work out what order the words go into before he understands, because otherwise it all just sounds like a jumble. That was in response to me asking him why he just stares at me and doesn't respond for ages after I speak to him (I was a tad frustrated with him at the time and had, without thinking, accused him of being insolent. sad)

His teachers had a big push on trying to get him to recognise letter and number reversals last year and there was some improvement, but he still does it regularly with 2, 3, 5, 6, 7 and 9, as well as p and q, b and d, j and l. I have a friend who is severely dyslexic, as are her two dcs. She's a qualified dyslexia teacher and currently studying it at a higher level. She said it does seem like he is has something going on, but we stand no chance of getting any assessment or support via the school/LEA because he get's by and isn't really bad. hmm

Aunt ds still muddles the tenses and sexes up as well. I know some of it is probably down to age and part of normal development, but just have this gut feeling that there's more going on.

I also found the thing about needing to stabilise hips for swimming interesting. Ds1 simply couldn't hold his body up in the water and we assumed it was due to the hypotonia in his core. I wonder if his hips had something to do with it as well.

bizzey Thu 13-Sep-12 11:17:04

So glad I came on to catch up !! I was going to tell you all that I/we have our 1st Genetics appointment today and to ask for any tips /advice on what I should be saying /asking but ....moose,auntand nev have reminded me tof other things as well..........Are we sure our dc's are not related !!grin

Ditto ..swimming and legs...I put it down to core muscles as well ....now not sure

Ditto speach/reading/numeracy(school in general really)

DS is 8.2 yrs in year 4(!) and on school action + and is due to see community pead next week to ,I presume....check for dyspraxia/dyslexia/processing problems ?? or have him refered for checks ?

Moose ...it was quite a few pages back that I said I had an appointment with a fab pead who got the ball rolling for me ....but I still had to push for origional appoint. Is school giving any extra help/support at all?

I am around till 1.30pm if anyone has got advice for me ...unless I can work out how to do MN on my NEW phone !!!(mind you ds willgrin)

Bizzey - good luck this afternoon. Don't forget the full family history, plus and history of joint pain and subluxations and dislocations for all. Then the most obvious questions are about who will support and monitor from here.... rheumatologist? What about cardio screening, physio therapy, pain management, OT. I have never had an appt with genetics, but those are the things which spring to mind. Does that help?

moosemama Thu 13-Sep-12 13:02:39

Bizzey, the individual teachers have been great, but that's as far as it goes. I am not popular with the SENCO, so nothing has been done on that side.

Ds2 was on School Action for two years when he was younger. He was very ill with pneumonia and lost everything that he'd learned (numbers, letters - the lot). I think that has been used to 'explain' the dyslexic/dyspraxic stuff since then, as in - "it's just because he learned it all later than his peers - he'll catch up if you give him time". hmm

Good luck this afternoon!

auntevil Thu 13-Sep-12 16:44:04

I've had a few interesting pms with IndigoBell re dyslexia and related things. I am of a similar opinion to her that gut and brain are very linked.
There is a 'brain fog' theory that stems from a leaky gut - basically, where what should have been processed ends up in the blood stream and clouds thought processing.
Dyspraxia is closely linked with dyslexia, is closely linked with ADD/ADHD etc. The idea is that you get the ears working, eyes working, tummy working and some of the symptoms we have all spoken about will be reduced - reduced enough to allow enough concentration to learn.
Oh, if only we had some answers! [very wishful thinking emoticon]

moosemama Thu 13-Sep-12 17:51:23

It is fascinating isn't it Aunt. There was definitely a big shift in ds1 when we removed gluten from his diet. His gut health is still a long way from perfect, but once gluten was removed it was as if someone flipped a switch and he was so much more 'in the world', iyswim. We always know straight away if he's been 'glutened'.

'Nightcat' is another MNetter who is very knowledgeable about all this stuff. She helped me a lot when ds2 was really struggling through exhaustion, impactions and severe constipation. He was so poorly, the GP was starting to get seriously worried, because he couldn't find a cause - turned out it was the movicol affecting his electrolyte balance. Apparently some children react badly to it and should only ever go on it for short term treatment, if at all.

bizzey Thu 13-Sep-12 18:15:31

Hi all I am back.......Interesting(ish) appointment...

Just a quick reminder though ...I have spastic paraplegia in my family....dad and younger brother so she was looking into that as well..

Yes more than likely mild EDS and H/M,.......but(as we already know !) no tests available only clinical assesment ..bla bla bla ... He has got it from me as she tested and checked me over as well.(really wish I had shaved my legs !!grin)

Possibility I could carry S/P gene but need to get bloods from DF and DB to compare but not yet as he is not showing all the symptoms of it.

Bloods were taken for chromosone checks. ...depending on results....my blood aand familywill be checked.

Forgot to ask her why she measured both our heads(but glad Iwashed my hair today grin!!)

Then at the end she took pictures of us both ..she says it helps her to remeber who is who on her case load...our faces and .......wait for it ..........

OUR EARS !!!!!!!

I did remember to ask why (and i did clean my ears today !!)

small ears and lobes (which we both have ) is indication/connected to EDS !!

Don't think we have mentioned this on here before ???

Right ...while you all go off to look at your ears I have got to go to a meeting at ds1 secondary school...I will pop back on later.

auntevil Thu 13-Sep-12 20:45:17

Brilliant post bizzey - LOL at shaving your legs - or rather not shaving your legs grin
Go on admit it - everybody checked their ears!
Yes, I have always had small ears and small lobes. The boys have too, but strangely, DH doesn't have particularly big ears either - and definitely not big lobes.
Am I right in thinking that your ears keep growing as you get older? (could be a myth)
Ninjathegoose has a DD with fragile X. She has recommended a geneticist at the local hospital and warned me that when you go for your appt. she really stares at all of you. Even though she knew why she was doing it, she said that even she felt uncomfortable (she thinks my DH will go into rude 'what are YOU looking at mode!)
Oh, and bizzey - did you find out why small ears/lobes could be connected?

moosemama Thu 13-Sep-12 20:59:21

First thing I did after reading bizzey's post was check my ears! grin I've always felt I had large ears, but I do have an attached lobe and of course both my ears have their own special skill. wink I can completely fold them up, as if there is no cartilege (sp?) in them. It totally freaks people out. grin

Had to laugh at the leg shaving comment as well. grin I'm slightly paranoid about that sort of thing, having been caught out a couple of times in the past. I make a habit of making sure I have had a full body work-up before every appointment these days - just in case! grin

elliejjtiny Fri 14-Sep-12 11:09:20

moosemama - I think the same way about DS1, there is something odd about him. His co-ordination is awful and at 6 he is still has 3-5 toilet accidents a week. He is brilliant at reading, quite emotionally immature and he panics when there are changes to his routine. So far we have been told that he is slightly hypermobile but that's it. I can fold my ears too, thought everyone could. I tend to do it when I'm thinking like when people chew pencils, I never knew that wasn't normal!

bizzey - I've been caught out with furry legs a few times, I feel your pain. Not sure whether my ears are small or not, I may have to google average ear size grin

nev - so sorry to hear about your Dad.

What seating do your children have? DS2 needs something for the IT suite at school as the other children have high stools and he would fall off those. The OT has suggested a breezi chair but we had one at home that DS2 refused to sit in because it looked like a highchair. I suggested a panda chair but that is too much support.

mycarscallednev Fri 14-Sep-12 12:38:30

On the ear thing - we all had to have our faces photographed at our Genetics appt with Prof Pope, plus bloods and later skin biopsies of DS were taken. The skin takes months to come back - we're still waiting for the last one and the samples were taken in Feb.
We have a large Breezi chair here at home, and he had a teezi-breezi at school. He was very reluctant to use it as it does look like a high chair, we've looked at others but its so difficult to know what is the right one as they all seem to have fors and againsts don't they?
My ds has a lipoma over his spina biffida occulta site which aches if too much pressure is put onto it, so the breezi is good for this, but looks uncomfortable if I'm honest!

moosemama Fri 14-Sep-12 12:59:46

Ellie, no-one else has ever been able to do it when I've asked. Some people have managed a little bend/fold, but not to collapse their entire ear, iyswim. I used to do it to help me get to sleep as a child.

Can't help with the seating. Our IT suite has gas-lift office chairs so he can have them whatever height he needs to keep his feet on the floor. He could probably do with some extra lumbar support, but he's only in there one lesson a week at the moment. In class he has an infant chair, rather than a junior one, so that his hips are at 90 degrees and his feet flat on the floor.

Cars we have tezzi chair but has side supports and a corner bit st the back that's more padded

Sorry catching up got back from conference and fell victim to man flu that turned into more /( but on the mend

On and ds3 has small ears and lobes to I checked

am intrigued, can you explain exactly how you can fold your ears - which bit are you putting where? DD2 has quite small ears, but not unusually so I woudln't have said.

elliejjtiny Fri 14-Sep-12 17:20:57

DS1 can fold his ears too. Not sure about the younger 2

moosemama Fri 14-Sep-12 18:43:54

grin Basically, I can grab the pinna of my ears, fold them back on themselves and then into the earhole, where they stay until I either unfold them or do a little wiggle with my jaw which makes them pop out! blush grin

They honestly feel as if there is no cartilege (sp?) at all in them, but to look at you wouldn't know, as they look the same as everyone elses.

Like the guy on this video and a few others on YouTube. Although I can fold the bottom half of my ears as well as the top.

I'm quite disappointed that there are so many people on YouTube that can do it - I thought it was my party trick! grin

auntevil Fri 14-Sep-12 19:59:24

Now I really know my ears are small. The top bit is too short to fold down into the hole bit.
Is there really anything that you can't find examples of on YouTube - I'm guessing not! Thinking of putting DS1s ability of picking and eating his nasal contents without using fingers and only his tongue, on for a laugh - but there's probably tons of those too!

bizzey Fri 14-Sep-12 23:40:01

EARS..EARS ..EARS cant believe I could have started a 100 plus thread on ears !!!!!!

Fuzzey legs !!! is now my next password tor something ...brill

having shxt day so far so bear with me ....

I will do today first and get it over with as it is nothing to do with our thread and just need to (cry)and rant ...

My dad......legs are f**ked due to spastic paraplegia
hands/fingers are f**ked due to to rhumatoid artheritis
Now "brain" is has got "cognitive dementia" symtoms....

CT scan is next ,...they wouldnt do it unless they thought they needed it ??
(ie money)

I am kepping mum together and doing all the positives that we are getting help and stufff ....but it is still hard .

Change of subject ....ds has pyhsio this AM ...she wants physio to be done in school a well/part of his curriculum....and she questioned (politley)his body ...lack of it fat ....and i think I am going to ask for dietitian to help.

Oh boy....yet another referral for the munch....something ...something....(cant remember the word). what ever mother and daughter .....you know what I mean ,,and feeling !!!!

mycarscallednev Sat 15-Sep-12 09:46:21

Bizzey, I feel for you with everything you have going on, and big hugs to you and your Dad. I miss my dad so much, but dont miss him being ill, if that makes sence at all?

Physio's need to understand that EDS traits make our children skinny - my boy looks so thin all the time, we've done Dietitan and the best she came up with was 'add double cream to his hot choc' and the stomach churning 'hot milk with marmite or bovril added'........ what centuary are these people from!
Now he snacks and has little and often as he can't stand the feeling of a full tummy - something to do with stretching of the stomach muscle and EDS I'm told, but hey, who knows!
I'm sure Indigo would tell me I'm making his condition worse as apparently I could 'cure' him with the right diet - sorry that really pissed me off this week - as if I haven't tried all that stuff before, and guess what - no different - if only all this was that easy eh?!!
Love and hugs and I wish I could make this time better for you xx

moosemama Sat 15-Sep-12 12:05:35

Bizzey, I'm sorry things are so hard at the moment.

Not sure if it will help, but I have been through all sorts of tests due to demential-like symptoms. Started with odd episodes that were initially suspected TIAs, but found not to be, then word finding problems, clumsiness, short-term memory issues etc. They are still not sure what it is, but it's not dementia. I have lots of lesions, which are causing the symptoms, but I'm doing fine almost two years since it all started. I go through periods of not being great, but am at my best when I keep myself as healthy as possible with diet, nutrition etc. There can be lots of reasons for dementia-like symptoms apparently, some of them very easy to treat. CTs are cheaper than MRIs so it's good that they didn't feel the need to jump straight in with a full MRI.

I'm another one who really misses her Dad, but doesn't miss his illness. It's so hard when you feel powerless to help. I will keep everything crossed for you and am sending big hugs as well. ((hugs))

Aunt, we've been through the dietician loop with ds1 as well and they were equally useless. Tried to tell me to give ds porridge, when it's in his notes that he is to be treated as coeliac. hmm Saw her a few times, she said his diet was excellent, offered no advice and then discharged as she said there wasn't anything more she could do.

He is rake thin, not a scrap of fat on him anywhere and he hovers either just above or below the 2nd centile for weight depending on what's been going on for him. Paed doesn't seem to think this is an issue, despite the fact he was always between the 9th and 25th centiles when he was younger and only started to get this thin following illness when he was 4. angry He eats enormous meals, bigger than dh and he's a big eater and it doesn't matter what we do, he never gains any weight.

As for Indigo, I know what you mean but she means well and is passionate about her beliefs. She can come across a bit militant and er ... direct (for want of a better word) sometimes, but she doesn't mean to upset anyone.

bizzey Sat 15-Sep-12 13:56:35

Thank you for your kind messages thanks.

Moose...what are lesions ?...They would have prefered an MRI but due to the fact that one iota of movement could ruin it and dad can sometimes have involentary spasms ,they are doing CT first and hopefully be given a "magic tablet !"

Interesting about the dietician....and skinnyness....ds does eat and depending on what it is ...eats the same as his brothers...depends what is on the menu !!! If it is something I know is he does not really like ,he gets a bit less(but he still has to eat it as I dont do different meals !) but on his favorite " easy meal day" of fish fingers/chips/beans/veg ..he has the same 3/4 ff(depends how many in packet) and in fact more beans than them as he would live off them if he could !!

And a nice bit of cake and custard to finish....before this he would have already had some fruit after scool and a nutri-grain fruity bar thing !!

I suppose I was hoping for dietician to give me some"body building" drinks/supplements for him
He is on the 2nd percentile for w and 9/25 p for height.

I think I will bring it up at another appointment so it can be on his notes just to get that bloody witch school nurse off my back who is convinced I dont feed my son properly !(ok a bit of paranoia/paramania setting in now !!!!grin) ... I might have to show her my shopping reciept that doesn't include the bottle of wine to show her all the good stuff I buy for them !!!

Community pead next week......confused what I am seeing her for now !!!! I am prsuming she is for the accademic side of things.......anyone seen one before ?

moosemama Sat 15-Sep-12 15:44:55

Bizzey, lesion is just the word they use to describe areas of damage seen on scans. They can be due to demyelenation (sp?) as in MS or vascular (as in ischemic attack TIA/Stroke) and in some cases severe migraine can cause them, in which case iirc they would also be vascular in type. Basically it's where a little spot of brain has been damaged and isn't working properly.

I have a working dx of MS, based on symptoms and pattern of lesions, but don't actually fufill the clinical criteria. My lesions are vascular in type, but MS in pattern confused. I have been trying to find out whether or not the vascular elements of EDS can cause vascular brain lesions (based on the Diana Driscoll stuff and the possibility of minor aneurysms) but haven't found anything definitive as yet. I have a neuro appointment this week though, so am intending to ask what she thinks.

Your ds is on exactly the same weight and height centiles as my ds1 and I keep being told he's not 'bad enough' for them to be concerned. hmm He gained quite a bit of weight and grew in height in the first few months after he went gluten free, but then it slowed and dropped off again. He has regular episodes of cramping and diarrhoea though, often leading to him screaming in pain for hours. sad The Paed has no clue what it is, but at the same time has only done bloods and stool samples and refuses to refer to gastro. He has raised eosinophils (sign of allergic type inflammation) high vitamin B12 (very odd for a veggie child) and raised protein. I did google and scare myself when we first got the results, but the paed insists those results are not concerning, despite being obviously surprised by them. hmm

He's come back off his school trip this week looking skeletal. I need to weigh him because it looks like he's dropped A LOT of weight in just 5 days. He has been doing lots of physical activity and I suppose they didn't know to compensate with bigger meals and lots of snacks.

Ds sees the community paed every few months - for monitoring. hmm Basically we see him for 5 minutes, he says there are no major areas of concern and off we go. Complete waste of everyone's time, although to be fair it was him that kicked the assessment unit up the bottom when he realised the SALT element of ds's ASD assessment was never carried out (mind you, it was me that pointed out to him wink).

A good comm paeds though would be able to assess the bigger picture and look for patterns and connections and refer on where appropriate. They are sort of general paediatricians, a bit like GPs but specifically for children and with a bit more clout.

bizzey Sat 15-Sep-12 16:32:35

Thank you moose for alll your help ...lots for me to think about..
Not sure if I want to or even could properly do a glutn free diet for him yet(unless I was told to obviously !)

I suppose it has to be an all or nothing situation....ie no little little lapses --when i cant be arsed--when he wants a bread stick !!

I have got this image now that the comm pead is going to be my "project manager" and hopefully draw all the outcomes and results together !.

auntevil Sun 16-Sep-12 14:27:13

OMG - Moose - nearly jumped out of my seat when you said high B12 levels. Our general paed also says nothing to worry about (as often the sign of an alcoholic too - which I'm guessing she didn't think applicable! grin ). I did have a Dr friend tell me that there can be anomalies on the day of testing and that also to his knowledge there isn't a hard and fast rule as to what levels in children are classed as specifically high.
But this is weird/coincidence. These figures were for DS3 who was at GOSH for failure to thrive - unlike the other 2 who - although underweight for height - are very tall. DS3 went from 95/98th centile at 18 months to under the 25th for weight and height by 3. His height has stabilised, his weight has not.
Initially I had been told by paed to make sure that I did not give him any artificially fortified food, but GOSH dietician put him straight back on - and surprise surprise, his growth started to maintain from this point.
He has been seen by the gastroenterologist - who confirmed lactose intolerance - and after elimination diet, confirmed gluten intolerant. This coincided pretty much with the re-introduction of fortified foods - so height maintenance could be also partially due to this.
What the lactose and gluten removal did do was cut back on the cramps and 'solidify' his poo to the point where he came out of nappies. He still soils, but now I get maybe 3-4 days a week where he does not, which is huge progress.
I must admit that I do get where Indigo is coming from. My boys have all been dx by a gastroenterologist, 2 lactose and gluten intolerant, 1 cows milk protein, fructose, sucrose and strict IBS diet. When we stray - which we do, and sometimes intentionally (birthday parties - etc) - I can tell the difference in behaviour, in level of pain and toilet wise. It makes me less likely to just say 'oh, ok then, just this once'. It is also something that you get used to over time. I was 'lucky' that the dx all came at different times. So I knew about lactose, took that out, then was told with 1 - all milk, so I just got my head around that when the fructose sucrose came in. Gluten removal was a year later, and I was already OK with dairy removal. It freaked me for a while, but I'm OK with now. TBH, the IBS diet is a nightmare - in a way the one that i struggle most with.
Huge post - sorry - just so excited (stupidly) that someone else had a high B12 result. [saddo emoticon]
Bizzey - sorry to hear about your dad. My dad died more than 30 years ago now, but my mum was my rock. When she was dx with alzheimers, they did a scan and it showed a few small bleeds, but they did not reckon that they made a huge difference. Mum was lucky and took donepezil (sp) and it meant that we had many years of still being able to go on holiday and girlie sessions. So if, and remember it still is an if, dementia is mentioned, there are medications that slow the progress noticeably. I wish you and your dad well xx

Bizzey

Sorry about your dad it's hard watching them get Ill.

There's a couple good gastroscope around that know more about eds and the effects one in London at st Barts works with Proffesor Azziz

But we're having issues here ds2 can't put in weight but is Luke a weed but am hoping his normal Gi team are going to do a referral to one of specialists we heard talk

But ideally I want ds3 under dietician we're having real problems getting him to actually eat enough as gets full very quickly and chewing is a problem to

Oh and was interesting how many he sees Dr Farmer that have eds but diagnosed with IBS infant often when he sees someone with IBS he looks to see if ate hyper mobile

bizzey Tue 18-Sep-12 11:07:06

THC Thank you for yor kind words about dad..

I think i will bring his weight up with comm pead tomorow and see what she/he says ......be interesting to have another view on it ....and I am now a bit more prepared to mention it ...

Other appointments have had so much else to put on his forms ...it sort of got put to one side.

Ds's paed recommended frying his foods, full fat milk (which he always had anyway) lots of cake, and five or more small meals a day....yes I know it is a nightmare with school time, but it really did make a huge difference with ds, he climbed off the 2nd percentile, which given height wise he is on the 75th to 91st!. His weight now sits around the 50th, so he is still very slim, but at least doesn't look like a skeleton.

Bizzey good luck tomorrow.

THC - how are you doing?

Ds struggling with shoulder and neck pain over last few days, must ring the psyc, it reminds me that he needs an appt, and he is a bit down at the moment.

moosemama Tue 18-Sep-12 16:20:57

Ds had his first swimming lesson yesterday. Hasn't had to try and hold himself up in the water yet, as they were holding onto the side for yesterday's lesson, but was in a lot of pain with his ankles afterwards and again this morning. Apparently they did lots of holding onto the side and kicking vigorously, so I assume he much have kept over extending the joint.

Tried googling for some standard advice re swimming and hypermobility, but drew a blank. Does anyone know of a good resource I can either print or refer them to?

I have never found anything specific for hypermobility and swimming. I had to write a specific risk assessment before ds went swimming, and then his teacher at the time had to go in the water with him, to give one to one within the class lesson. Now he has his TA with him in the water....he couldn't just join in, he needs to have ever exercise adapted to his joints.

Sounds like your ds needs some one to one support, or at least a method of signalling the teacher/instructor that he needs to stop an exercise if he has pain. He also needs to have his towel alongside the water, so if he has to get out he can be wrapped up in it to keep warm.

moosemama Tue 18-Sep-12 17:59:52

Thanks Sparkle.

I think I'd better prepare yet another letter for his teacher. I have to send one in anyway, as the physio suggested we send in a laminated sheet and 'box of tricks' for ds to do his own exercises during PE if what they're doing is too high impact or something that he knows aggravates his joints.

Going on my experience of ds1's Y4 swimming lessons, it will take half the year for them to suss him out and then he'll end up with 1:1 lessons anyway, but if I can expedite it then obviously that would be better.

elliejjtiny Tue 18-Sep-12 20:00:00

DS2 was at school 9-1 for the first time today. This afternoon he took 25 mins to do a 10 min walk (10 mins at my slow pace pushing wheelchair and carrying DS3, would probably take most people 5 mins max) when we picked up DS1. In the end I had to pick him up and put him in the wheelchair while he was screaming "I'm not tired". What am I going to do if he can't manage full time by next september when he legally has to be in education full time? He is only doing 2 days a week as it is and even the SENCO admits she was hoping he'd be doing 3 days a week by now. The teacher just says don't worry and we'll cross that bridge when we come to it. And she calls me Ellie rather than mrs tiny which can't be a good sign grin.

I saw him in the playground today and he looked so exhausted. When they went into class I saw DS1 drag him off the low wall he was sitting on and manhandle him into the reception class line. One of the 1 to 1 TA's (not his, he hasn't got one) came up to me and said he'd been really tired this morning.

moose I'm sure I read something about EDS and swimming on one of the EDS facebook groups, I'll see if I can find it for you.

elliejjtiny Tue 18-Sep-12 20:23:23

Lifestyle modification

For some people with hypermobility, lifestyle changes decrease the severity of symptoms. For example:
If writing is painful, people may be able to reduce the pain by typing.
If typing is painful, they may try voice control software for their computer or a more ergonomic keyboard.
If standing is painful, keep a bend in the knees or use a wheelchair.
Avoid activities that can bring on symptoms. These include standing, stretching the joints (such as in some forms of yoga), and lifting heavy objects or weights.
A decrease in heavy exercise, such as lifting heavy weights or running with wrist weights, which can be jarring to many joints, can be replaced with a more gentle run on an elliptical machine. Swimming fans could try using a kickboard to exercise in a pool (careful not to hyperextend knees while kicking the water and keep a bend in your elbows if you swim; if y