EDS Hypermobility No. 2

[SparkleRainbow]

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

Hi everyone, please, please, please auntevil tell us how you got dx. After dwelling on yesterdays hv visit, a lot, realise unless we get a dx quick ds may miss out on a lot of early years help. Hv advised is automatic when you have a dx. Also I need to know what's wrong, get over it and just get on with our lives (in a new slightly modified way).

Hope everyone ok

Oh everyone ..where is our magic wand to make everything better.....

spiderman we don't have a proper diagnosis for our boys. Neurologist said DS2 must have benign joint hypermobility syndrome because he couldn't find anything else wrong and he said it's the same as EDS type 3. Paed said he can't have EDS as he has never dislocated anything and his hypotonia is worse than his hypermobility. Then DS3 was born and he has hypotonia and hypermobility too but not as bad as DS2. He has an extra bit on one of his chromasones but we're still waiting on results from DS2, DH and I. We also have DS1 who has some very mild autistic tendancies, mild hypermobility and gets his letters the wrong way round (he's only 5.5 though).

reindeer is there a link between CF and hypermobility? Just wondering as we have CF in my family as well.

Has anyone else had miscarriages? Just wondering as I've had 2 and I read somewhere that miscarriages are more common in women who have babies with EDS. I've been convinced there was a link because of my pregnancy symptoms in the first trimester:
pg1 - bad flu symptoms, no sickness - mc at 6 weeks
pg2 - mild flu symptoms, horrendous sickness - DS1 (mild hypermobility)
pg3 - bad flu symptoms, some sickness - DS2 (severe hypermobility, severe hypotonia, development delay, fatigue)
pg4 - chemical pg
pg5 - medium flu symptoms, medium sickness - DS3 (medium hypermobility, medium hypotonia, development delay)
pg6 - bad flu sympoms, mild sickness bad nausea - mc at 9 weeks.
With the last 2 pregnancies I could predict the outcome based on my symptoms. The paed said there wasn't a link but I'm thinking there must be.

Lots to write on today - worked all day yesterday and didn't get to sit down 'til late [knackered emoticon ]
spiderman Early dx of dyspraxia. DS1 is very bright - very social and always has been, but physically the clumsiest most disorganised child ever. There was no way that the paed could have sent him away/discharged him without due recognition. Even at that age, it was easy to see that he did not have global delay in any other developmental area - cognitive, emotional, social etc. He did query aspergers, but never went along with that route. So I suppose, with no other obvious areas of concern apart from physical, the paed probably had no alternative but to dx. so by default really?
Don't let anyone kid you on that you get any support after a dx of dyspraxia - its a myth, as you will see when I have a rant in a minute
ellie tons of miscarriages - but I had always assumed that it was due to my age! 11 confirmed pregnancies - 3 DS. 2 of the 11 went some distance, 1 stillborn, 1 at 20 weeks. But I am a fatalist - it is mother natures way of saying that the pregnancy was not viable.
Just had the report from DS1s paed visit and I am fuming. Factually it is littered with mistakes. Additional chromosome noted, but 'mother does not have further details' - yes, because of course its my responsibility to know if my DSs also have this extra arm and if it causes anything ?
It also says she 'evidenced hypermobile joints' , 'normal proprioception' - which is completely disputed by the OT report which she refers to throughout.
She ended with school carrying on with the educational aspects, OT has him on their waiting list for sensory integration therapy (which I organised and will have been 2 years this summer from me starting) - and her input? From her medical perspective he has no symptoms to investigate - even though I said to her that if she agreed him to be hypermobile - as per the `OT 'diagnosis' - that I would want further investigation - for medical reasons based also on the medical issues of his 2 siblings! None of that appears at all. Review in 6 months following OT treatment sessions - which could easily be another year! So how mad do you think I am this morning?

a separate sideways slant to the thread - what do you know about gastroparesis/delayed gastric emptying? From what I can find out, it's common with EDS, and I'm starting to wonder if this is what is wrong with DD2...

For the past 5 weeks (bar a total of 5 days in all of it) she's been vomiting. Sometimes it's an hour or so after each time she east, sometimes it's not all day, then a load comes up in the middle of the night. Sometimes even water hitting her tummy comes straight back up. None of the tablets she's had have worked for more than three days. The hospital said she wasn't dehydrated on Tuesday night, and to go back to the GP if it didn't get any better. She'd been referred (but to a paed, not a gastro, as this seems to be hospital policy, anything to do with children goes via a paed), but that was 10 days ago, and although it was marked urgent, we still haven't heard anything.

She had a bad spell Friday and Saturday when she didn't wee at all, but just as I was about to ring NHS direct/go back to A&E she managed a small amount. She hasn't pooed for nearly a fortnight now.

All blood tests are normal, she doesn't have the hylio (sp?) bacteria, it just seems like everything sits in her tummy till it can't take it anymore, and she brings it all up. Meanwhile her tummy gets more and more sore, and school won;'t have her in as she's being sick. Although tbh she'd struggle getting in for 8.45 as she's not really able to function till midmorning, but then can't sleep at night.

Any ideas/suggestions? She's managing to take in about a litre of fluid (flat lemonade) a day at the moment (which is up from the two glasses she was managing earlier in the week). Don't know how much weight she's lost, but she's gone down a dress size since this started.

Midnight This is probably not the same thing but I find when DS2 gets a bug then he carries on having occassional puking and the runs for a while. I thought it was because his tummy muscles hadn't quite got the message that they are allowed to slow down. DS2 also had reflux and DS3 still does. Sorry that's not much help.

Midnight - She needs to see consultant asap. Here we have a gp system referral, which gets kids into hospital fast. It is called a PANDA referral, can't tell you want the initals stand for but basically the gp calls an emergency number and speaks directly to the paed on call, they discuss what is happening and we are given a bed on the day patient paed ward. After dc are seen they are either discharged with an outpatient appointment or moved to the inpatient ward. I would call up the gp explain it is still happening, how much weight has been lost and ask if there is a way to get her seen at the hospital asap. If this system does not exist with your pct then at least the gp can chase the urgent referral and get an appointment through. Having said that, if you don't have this system and the gp can't get you in today or tomorrow I would go back to A&E, what is happening is not right at all.

spiderman - I was dx by prof grahame at 25, with eds, I had initial dx of BJHS by rheumatologist in Cambridge Dr. Bright at 18. Until these dx I was told it was nothing, growing pains, all in my mind.....etc as you can imagine.

I knew my ds had it the day he was born, he was too floppy even for a newborn. My hv also commented on it, his hips were top flexible,. Because had had clicking hips (hmm wonder why ) when I was born it was pct policy in Solihull where I lived at the time, for all children to be referred to hip clinic for screening. When they had established at 6 weeks through ultrasound scan that his hips were formed correctly skeletally, then I went back to the gp and asked him to refer ds to prof grahame in London. He did, it took a yr to see ds, but he did see him when ds was about 20months and dx him with eds, although he said at the time the extent of it and how it would affect him was unclear as he was so little. I then did nothing as he was ok, we moved lived in the usa for a while. He always complained of pain, I knew it was eds but I just monitored him. When he was 5 he started dislocation joints, fingers, knees, shoulders and eventually his neck. It was at that point that pain levels escalated, when he was 6 and growing a lot, it is also when the problems he had with writing, proprioception, core muscle strength etc developed or at least started to be visible as real problems. I have only realsied since that his gastic issues are almost certainly related.

I spent the weekend with my OT friend and we talked about eds etc, she says categorically an OT is NOT the professional who has the skills and knowledge to dx. They may suspect eds when the see a collection of symptoms, but they don't know enough about the workings of the human body to dx.

EDS type 3 hypermobile type, which is the most common of eds's can not be dx by blood test. It can only be dx by what is called clinical differential dx (think of series House on the telly), a family history even if not offically dx, symptom history -pain dislocations, subluxes etc, examining all joints to look for hypermobility, blood tests and xrays to rule out skeletal disease or disformity or Juvenile Arthritis of Rheumatoid arthritis need to be done by a rhematologist in my experience.

ellie - I have done quite a bit of rereasrch around eds and not found info about a link with cf. I am waiting with interest to see what reindeer says when she answers you.... I am learning all the time with this condition even after dx over 20 yrs ago.

I have had at least two miscarriages, both pre 12 weeks. There may have been others but they were very early on, and I only say maybe as we were actively trying and I was up to a week late when I had only ever been incredible regular 30 day cycle. Those miscarriages were before ds. After ds I became pregnant very easily with dd1 and dd2. I dislocated my right knee constantly during preg with ds, I had terrible back pain. The rest of the symptoms were the same for all 3 preg, nausea but no vomiting, increased joint pain, but manageable, stretchmarks, ligament pain in pelvis, quick dilation and speedy deliveries. Ds was 2 weeks early, dd1 was one week, dd2 was on time.

auntevil what a load of consulatnt rubbish, and hoe did she note normal proprioception then during this consulation! I would write a letter, breaking down the consultants report into each point and state whether you agree or disagree with it, what the OT report said, school have said or any other input you can. Then send the letter to the consultant, copied to your gp and the PCT, including in this letter this being exactly why you have no confidence in this paed and therefore you need a referral to a rheumatologist who specialises in connective tissue diseases, and preferably has paed training. If the pct can't provide anyone suitable then a referral to....(GOSH, Birmingham children's hospital, EDS centre somewhere reasonable for you)

Sparkle it's interesting that your DS didn't dislocate anything until 5. I've often wondered why DS2 hasn't dislocated anything but as he is 3 maybe that is why. He has pain and when he gets that he walks like an old person if that makes sense, really slowly and kind of shuffly.

I wondered if my miscarried babies had hypotonia in their hearts as that is a muscle or maybe there is a type of EDS that is incompatible with life. I suppose it would be difficult to do reasearch on something like that.

My sister has just announced her first pregnancy and I'm jealous because she doesn't have the will I miscarry, will the baby have EDS panic. And then I feel guilty. My other sister is one of those people like my DS1 who is a bit hypermobile so she probably has EDS and can pass it on to her children. My mum says that "normal" children are overrated though . I find that DS1 and DS2 are more inclined to include children who have disabilities than other children their age which can only be a good thing. DS2 tends to argue with people like bus drivers and I'm not sure if that's a good thing or not .

need a steam pouring out of ears emoticon.

Saw the GP again this morning (spoke to a nurse first who got us slotted in). He's prescribed senna as the feeling is that she's constipated, and that's stopping wee coming out properly. I can sort of see how that would work. But the size/type he's prescribed has to be ordered in to the chemist, so we can't get it till tomorrow. In the meantime because a referral has been made, we just need to wait for an appointment to come through. It seems she's not ill enough to be seen via the Child Assessment Unit (which is a same day GP/A&E referral clinic type thing, like your PANDA thing Sparkle) because she's able to drink liquid, and presumably some food must be being processed as she's still functioning.

I did rant about how long was it therefore acceptable to leave her being sick for, and he muttered about how he wished he was able to speed up the appointment, but there was nothing more he could do.

So basically, she has to take the laxatives (which should work within 24-48 hours) and see what that does, and sit and wait for the hospital to send out an appointment. Meanwhile she's still not back at school, is missing out on so much both academically and socially (her friends have stopped asking when she'll be back), and is in pain every time she eats or drinks.

A&E won't do anything as it's an ongoing problem which she's already been referred for, unless it gets life-threateningly worse; GP apparently can't do anything more because they've done all they can, and it's up to the hospital now, and I'm now at a loss. This is exactly the situation we were in last summer when she was fainting all the time (up to 120 times per day at it's worst) when everyone realised there was a problem, but no-one was able to do anything about it. aaaaaarrrrrrrrrhhhhhhhhh!

for you midnight . This whole pct/GP/Paed/hospital malarkey is a circus. I truly don't know if anyone in it actually seems to think that they have responsibility anymore.
A little concerned re the senna, as if it is effective, there will need to be more fluid taken from her body to fulfil the senna's job. Also, you can only pass when you've got something to get rid of - if she hasn't eaten properly for 5 weeks, its hardly surprising that there's not much to come out. Did he check for impaction?
Totally agree with your mum ellie - NT children are overrated . My mum was a SS teacher for 30 odd years - and she loved it. When she retired, they asked her to go to do 1-1 with a child in MS - she hated it. Not the child she was with, but the whole NT environment.
sparkle - still mad as hell - and will be writing a point by point amended version of the letter. I'm seeing SENco tomorrow, to clear up any differences with his version of what he said to the paed - as it doesn't tally with what DS1 gets, and I don't know which one has mis interpreted what the other has asked/said. This is one I'm going to win

aunteveil - good luck with getting things clarified - we have a letter from the rubbish pad which isn't exactly wrong, but has his own interpretation of things, and has conveniently ignored the bits in other reports which don't fit his views. Not sure if it's worth correcting or not, but we have got the GP to agree that we need to see a different paed.

What does checking for impaction look like? Everyone has done lots of poking and prodding all over her belly (only place it hurts is towards the top of her stomach), but no-one's been forthcoming about if it is constipation or not. Earlier on she did have pain lower down and a different GP gave her Fybogel which was reasonably effective, but the nurse said to stop taking that for a reason I can't remember any more, but did make sense at the time.

Why is it so complicated??

Midnight, do you know exactly which paed your dd has been referred to? If not ring the gp's surgery and ask the secretary for the name on the referral letter. Then you can go via the hospital switchboard and ask to be but through to the paed's secretary and explain what is happening, and the refer was marked urgent and that things have got worse since, could she please write a note for the paed. It is also rubbish that just because their name is in the system that the child assessment unit won't see them, that is the way we get ds into hospital when he needs to be, and he has ortho surgeons, rheumatologists, two paed, clinical psyc, orthotics and physio at the hospital, so he is definitely in the system. It is also possible for the gp to telephone the paed and hurry up an appointment, or at least it is here cos my gp has done that too.

I swear they make it complicated to parents/patients go off and suffer in silence and stop bothering them......well they haven't met this new breed of mums of eds!

Ellie - congrats for your sister. It is hard I am sure, to watch someone you love who has that miracle and expectation of a perfect baby and perfect pregnancy, but all our babies are perfect too, just in a different and sometimes more challenging way

midnight - the prodding and the poking was probably trying to feel for an impaction - but considerably lower down than the top end of her stomach. I know with DSs at the gastroenterologist, they feel their stomachs and inside, but a lot of that is because they just don't move food along properly. I remember when DS2 had a tube down him, and one of the registrars in theatre apparently looked really concerned to see these perfectly spherical 'growths' - 4 of them! Gastro laughed as they were baked beans - 5 days old and still nowhere near getting digested . Its a shame - because other days, the food can be in and out in half an hour!

LOL at the beans .

Sparkle - letter went to the general paediatric pool of doctors apparently, so no named person as yet. But yes, once we do, I'm onto it. I'm also wondering about asking the nurse specialist at the Brompton for advice, as I need to reply to a email from her in any case. She's very much a "get things done" person, but I'm not sure how much clout she'll have, especially since we may be transferred away from there depending on what happens at the rheumatology appointment in April.

Hello to everyone else, I'm mostly finished ranting now (managed a good shout at some maniac drivers coming out of Croydon earlier, so have calmed down a bit ). How are you all doing?

Hi everyone

sparkle and ellie apparently there is no link between CF and hypermobility. Obviously I carry the CF gene but I suspect I'm also hypermobile (I'm quite bendy and get quite painful wrists). I'm making huge assumptions about his hypermobility here but when I spoke to his CF consultant about it recently he s a bit perplexed and not really familiar with it. His consultant offered to makes a referral but wasn't sure who to make the referral too. We are looking for an official DX to get support in school. However DS gets very painful legs. Our CF consultant has always thought it was the CF causing the problems - but his vitamin levels are within normal range (he is on fat soluble vitamins) so we are awaiting a physio to help us with potential hypermobility and leg pains. The only thing I am aware of is that they are both genetic conditions and the hypermobility means that some medication isn't advised for the CF care as it can do further ligament damage.

ellie do any of your DCs have CF?

sparkle how is your school friend do you still keep in touch?

We have been told today that DS is to undergo further testing for CF related diabetes. This is alongside testing for hypermobility, dyspraxia, and another referral to a psychiatrist to deal with DS's massive needle phobia which has flared again while on his recent hospital admission.

I'm exhausted, so goodness knows how DS feels. I'm doing a disservice to DS but I'm not pushing the OT referral as we have too much on at the moment. We have got the physio through our hospital physio so it's not been too laborious. But alongside keeping him well on the CF side I'm a bit wiped out by our recent IV antibiotic stint (I do these at home). I actually just want to go hide under a blanket for a month. Someone wake me when it's over.

midnight ask for movicol. Far more effective for potential impaction than anything you've currently been prescribed and also is fairly harmless if it isn't impaction but another complaint. Also might be worth asking the GP if it could be stomach acid related? Perhaps omeprazole might help. I woud, also reply to the letter from the paed who has missed certain points, just to ensure they get checked by any future paed. It is important to question why they have missed several issues / or glossed overe them if it doesn't fit with their diagnosis. It could lead to misdiagnosis which is possible, and really hard to get undone and get the right diagnosis. Good luck.

hi catching up again

sady dx does mean mean any extra help

Sparkle think your Gp is one of a kind .I do all the chasing around here .How is ds feet they any better

snormal route is paed/physio ack to paed and then maybe a out of area referal but tis a long slow process

think it is the chasing of apointments and the hysio and attending everything that wipes us out i feel permetley knackered

Hi everyone, hope all ok

Midnight I can also recommend movicol we used long term for toddler constipation for ds. Have taken him off now and despite being told he should go every day decided that he is naturally an every other day person.

Had bloods back and all ok so far, which is good!

Believe I have hypermobility too and I do the whole dislocation thing as well. Once happened to my shoulder when halfway through cutting dh's hair lol. So we may have undiagnosed history. Dh has also agreed to private assessment even if it's to pay for a useless paper just to keep me quiet . Will wait to see what else comes back first though.

I agree that my gp is one of a kind....he is fab. Having said that I have been through 3 different gps with all the moving we have done, and each time they have referred to a rheumatologist, who handles the condition and refers out to other specialist when necessary. I wonder whether it comes down to the age of the patient, although ds was referred straight to a rheumie...maybe that was because I was already dx. It is infuriating alone that each pct seems to do things differently.

Reindeer I am sorry to say I lost my friend to cf when we were both 16, I miss her still. medicine has moved on so far since then, at the time she was very severe and her parents had been told not to expect her to live beyond the age of 3, so she beat them odds.....she was fab like that

auntevil @ the beans

midnight I would email the nurse specialist if she can help, as you have nothing to lose.

reindeer my cousin had CF. None of the DC's have it. My auntie is a carrier so one of my grandparents must be as well. Not sure if I am a carrier or not. DS3's CTG microarray test showed a genetic mutation that nobody seems to know what it means but no other abnormalities so I'm assuming that means he isn't a carrier.

Hi all..auntevil still smiling over beans!!!

Need a bit of advice from any one..We are going for our 1st pead app next week(finally)..I have got loads of issues which i wiil make a list of but how do i approach this....go armed with all my info from mumsnet and google or play a little bit dumb and wait and see what they say and then bring up my research..do they get peeeed off with mums who know it all.

Ihave re-read and re-read all comments even from the first thread and i dont think my ds has got as serious symptons as you have all been describing which is why i feel a bit of a fraud for beeing on this thread..but he does have issues that need looking into.

Some of the things i am going with in no particular order..

Hypermobile joints but no dislocation
flat feet
thin, long limbs.toes ,fingers but still small in height(think of new born foal ..spindly)

SKINNEY NO FAT ON HIM!!!!

Unexplained bruises
nose bleeds that last a long time
hairy back(?)!!!
very prominent veins

tired /sore legs and feet,hands

SCHOOL... spaced out most of time cos having to concentrate soo much and use extra energy to get his boby moving, he is yr 3 but working at reception/yr1 at a push cant remember /process anything have finally sorted number bond up to 10, but knows how to do wash machine ,dishwasher, computor x box???

Oh and forgot to say about slurred speech....i think i might stop now i will leave the bike /ball/running till another time!!!!!

At a medical conference last year there was a session on Getting The best Out of Your Doctor (it was a GP, but the principles should be the same), and the advice was - make a list of everything that's concerning you/might be relevant, then pick the three most important issues, and just talk about those. You may find that things naturally group together, as in your list, so you have Symptom A which has points B, C and D as additional "evidence" of that symptom.

What I've tended to do (where I've had an idea of what the end diagnosis was likely to be) is to pick the things which will "guide" the doctor in the direction we want them to be looking. And particularly with a specialist, they'll be asking you about x, y and z. However, my experience of paeds isn't that great , remember that they're not specialist necessarily in any particular area (other than children obviously), so making it clear what further investigations need doing/help from somewhere else, makes it easier for them to help.

Good luck!