Our SN area is not a substitute for expert advice. While many Mumsnetters have a specialist knowledge of special needs, if they post here they are posting as members, not experts. There are, however, lots of organisations that can help - some suggestions are listed here. If you've come across an organisation that you've found helpful, please tell us. Go to Special needs chat, Parents with disabilities, SN teens, SN legal, SN education, SN recommendations.

EDS Hypermobility 3

(825 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.

bizzey Sat 17-Nov-12 19:55:20

HI ALL..and Rockinhippy..hello!

Well ..as usual been AWOL and am trying to catch up ..and cant remember all the things i have read to reply individually !! [embarressed] ..but I think I have bits of information which might apply to some or all !!!

Saw pead last week.....Vit D still low which can as we know cause the "bone"pain and aches and pains which he is complaining about more and more sad so back on supplements.

Blood cloting is still slow...haemotolgy(sp)...blood people !!! will now get involved to advise.

Genentics..."array CGH" normal ..but results sent to pead so don't know too much about that till I see him .

But she has recomended "amino acids and organic acids taken" ??

This is from a copy of the letter she has sent to pead ..I have had no appointment to disscuss things with her but she will see him in a year .

But on a good note...I have managed along with a fab physio and SENCO to get some exercises included in some PE lessons ,which are the same as another sen child....AND HE IS STARTING TO READ SOME THINGS CORRECTLY !!!!! He is still behind but he is getting a nice flow now with his reading ...hopefully things are clicking now !!

Oh and he scored a goal in hockey !!!!(indoors with sponge ball and sticks !!!!grin )

sad ...oh but he fell over 2 days later and scraped/cut(bashed) his face up which took 3 weeks to settle before I could take him to the dentist to have his chipped front tooth "filled" ?sorted ...dont know how they do it but it looks lovely !!!....school phoned me to warn me "he looks a mess"!!!!grin

However my fingers are edging nearer towards the DLA form and finising it ?

I think i have got "formaphobia " !! grin...just dont think i can cope with someone saying ..NO...to my little baby !!

Hope some of this helps...*rockinhippy*...school can help..if you tell/push hopefully

Take care all

Dives back in sorry been AWOL dc been poorly I been poorly and then just manic

Midnight

My two older ds both have autoimmune issues alongside the eds both have raynualds abs ds2 had severe asthsm and eczema ( used wear 24 ventolij pump )

Dd who likes be Differnt has a suppressed immune system plus a lung issue but is not related

Addenbrooks said can't help ds2 with bowel issues after bit of argument about how im convinced it is related they not they refered to Dr Farmer ( sparkle one we heard talk ) and he has agreed to see him just got to wait on Appointment he is determined to hell so means a trip to Teleford some point

Oh and ds4 paed is concerned about his height or more lack of !!

Glad you are getting the appt THC even if it takes a bit to come through, you will at least get some sensible answers and someone who understands the links!

Unbelievable news you might think, I certainly do, but I have got the job at the children's school! It starts after Xmas, will be slightly less than full time, team teaching dd1's class. Am very excited and quite terrified. Dh is going to help with certain of ds's appts etc, and take on more of the emergency covering ds needs. Am ore than a little concerned about juggling it all, but got to start bringing in some money and trying to get a pension for myself! Only a temp contract until sept, so if doesn't work with ds I will be able to have a rethink!

Physio is amazing for do, and has been a godsend....having said that I have been really rubbish about doing it regularly enough recently....must try harder! grin

Wow congratulations sparkle ANC who knows temp contract lead to grin

We pretty much stopped regular Physio as everyone agreed that the excerscise stuff not working we have had 5 years of trying And he is far to tired Nowadays think it's because everyone now accepted there's a chromosome issues somewhere and less stress over the EDs

So we changed back to just enjoying life soft play when can /swimming plus more hydro

was at the hospital yesterday, so decided to try and track down DDs missing physio appointment... turns out they never received it (mainly because it was done at the same time as the podiatry appointment, and somewhere along the line, the podiatry box was ticked on both forms [sigh]).

So the lovely paed physio secretary is going to see what she can sort out tomorrow when she's next in, but I needed to be aware that referrals coming in now are not being seen till August shock. She said though that once the duplicate paperwork arrives, DD will be slotted in where she would have been in the first place, but a 9 month waiting list!!!! Is that normal for paed physio??

auntevil Thu 22-Nov-12 10:08:17

midnight - it's that ridiculous postcode lottery again. DS1 was referred by OT in the summer holidays for physio. I asked at his last sensory integration session, that was in the school holidays. His first appointment was through at 18 September and we have had monthly appointments since. So at best, 6-8 weeks. 9 months is just wrong.
sparkle - well done to you. I started back in September and found the first couple of months a whirlwind. I had forgotten how differently you have to plan your day - and how much more organised you need to be at the weekend to make sure you have everything ready for the week ahead. But, you will get back into the swing of things - just make sure you give yourself enough time to re-adjust!
THC - I've forgotten where DS4 is on the height chart? DS3 has gone from off the chart at birth, 95_98 at approx 2 years and now is just below 9th at 5. Is anyone worried? Are they heck!
Physio has been very good for DS1. Since September he has gained an extra 10 degrees movement in his knees as his ham strings were so tight. Now we have to make sure that they don't relax too much as he needs them to be tight enough to support his hypermobile joints.

thriftychic Thu 22-Nov-12 10:10:05

Hi , have been sent over hear smile

i might just be getting paranoid but this is on my mind ,

my eldest ds (17) , when he was younger he always had really bad frequent leg and ankle pains . the doctor put it down to flat feet and gave him insoles. he now only occasionally has achy ankles .
he also has bendy thumbs and can sit in a weird position because he has over rotated hips (think thats what was said )

he is very tall (even though we arent , i am 5ft 1) and when sitting his back looks quite curved and im always telling him to sit up straight. i once mentioned this to the doc who just said he needed to stop slouching. but im not sure thats it. my brother also commented on his back.

his skin is very soft , his hair very fine . i am worried it looks like its going thin as his dad started to go bald at 18 and it progressed quickly.
during puberty he got incredible stretchmarks all over his back .
hes prone to nose bleeds .

the other day his nails looked a little bluish and ive noticed that once before , a couple of years ago.

he feels fine , he says hes fine and doesnt want to go to the doctors , but im a bit worried and after googling i have started to wonder about ehlers danlos syndrome .

my younger ds1 (13) , just diagnosed Aspergers , also has the bendy joints , neurologist spotted that , but again doesnt seem to cause much problem

can anyone in the know give me any advice please ?

auntevil Thu 22-Nov-12 22:18:58

I think we've all gone down different routes depending on what the worst symptoms are. This is the problem really.
My DSs don't have a dx as such - yet! They are hypermobile, they have IBS, they have requisite joint and musculature problems, but does anyone take it very seriously? not until recently - and that is with a lot of pushing.
DS1's paed - who he sees (when she can be bothered) for dyspraxia and gastro issues, does not believe that hypermobility and IBS are connected (just google the 2 words and NHS choices come up biscuit )
GP would always go with paed - PCT rules.
Gastro consultant referred on to ENT for DS3, who referred to GOSH - gastro referred DS2 to Evelina, DS1, I referred to OT and physio via OT.
'Tis a tangled web!
Nobody looks at the possibility that there could be a genetic link. They look at 1 child with disparate symptoms and treat the part they are trained to treat.
It takes 1 person to back you to start the ball rolling.
I have just had 2 lucky breaks. DS2 got dropped by rubbish paed - so GP could do referral for genetic testing.
Consultant at Evelina had already thought that there was a problem with collagen/musculature and when I told him about the others he questioned why no-one had joined up the dots, so he is doing different tests, but still seeing a genetic link.
I suppose what I'm saying thrifty is that if you're worried, go to your GP, but don't be surprised if you get pushed from pillar to post. My feeling is that just because they look fit and healthy now, a) it doesn't mean that their joints will always be so and b) how can you tell what hypermobility can be doing on the inside. Looking for a reason is ultimately preventative medicine.

thriftychic Fri 23-Nov-12 11:46:36

thanks auntevil, its also my experience that they just never join up the dots ! its unbelievable really .
i have health issues myself but i can take the same problem to different consultants in different departments and they give me different diagnoses.
i just dont trust any of them any more !

rockinhippy Fri 23-Nov-12 12:13:55

thrifty I had exactly the same problem with getting my DD diagnosed by my GP - I first asked for a Rheumy referral YEARS ago - quite happy to send me off to see the paed gastro Dr again & again, so they could pat me on the head & tell me it was just IBS & nothing more & her stopping growing was normal etc - it wasn't - I joined the dots myself thanks to a post by a HMS suffer friend on FB - it was a lightbulb moment, but I still had to fight our GP - though once I took DH along & then submitted a follow up to every appointment in writing, she knew I meant business & gave us the referral - The Rheumy however was absolutely fantastic - I took along a list of DDs accidents & symptoms etc - which from experience with her Gastro Doc I was very nervous about doing - I was labelled Neurotic Mum by him thats for surehmm - but she actually thanked me for doing so & even commented on my previous list to the Gastro Dr & thanked me for that too, saying it all made her job much easier & she even apologised that I wasn't listened too then smile

So in short, don't give up, just get stroppywink

rockinhippy Fri 23-Nov-12 12:16:58

mean to ad - my DDs stopping growing & out of control IBS was actually down to a reaction to her Asthma inhaler - confirmed by our chemist & told they don't use it for DCs in the US because it can affect the stomach lining & growth - I do wonder what some Docs get paid so highly for at times, but some can be wonderful, you just have to keep plugging away

Hi. mycar pointed me over here. I'm after advice and info really.

Dd is 4, and has a few non-physical issues which I won't go into. She's finally been referred to or and physio. Seeing them next week.

I met the OT last week, and on discussion of some of dds problems he mentioned hypermobility. But I'm not entirely sure what that is, or that that is what it is.

Dd was very late to meet developmental milestones. Late to hold head, sit, walk. She still doesn't walk outside. She can get out of a 7point tightly done up harness in seconds. She falls over a lot, she never stops herself, she can't walk up and down stairs. Basically walks like a 18mth old.

She can squash herself into the tiniest boxes. Or upside down with most of her weight on the back of her neck.

She walks into people and objects, like she has no spacial awareness.
She doesn't say she hurts. but then she doesn't unless she's really hurt herself

Now I know there's something but I don't know what
Any ideas?

Ouchdownthere Sat 24-Nov-12 06:58:33

Hello everyone on this thread. I am creeping on here to ask if any of you have any experience of developmental delay and or sensory issues alongside hypermobility.

DS has just turned one and is developmentally delayed in all areas. He is undergoing chromosomal testing etc (to be honest still can't get my head around what they are actually testing for) but I wonder how much is linked to his hypermobility. Having moved halfway through his assessment he has been seen by two different teams and we have conflicting information as to what areas he has poor tone sand how severe his hypermobility is. He is sitting but cannot weight bear neither through his legs nor really his arms. He appears too also have some sensory issues in that he always chews his hands and doesn't really play with toys (possible tactile aversion).

An (as thought unrelated) MRI shows he has an enlarged cisterna magna which I have also heard can be linked to lax joints, anyone else heard this?

Am really just trying to seek some understanding about how hypermobility has affected other little ones development and would appreciate any wise words you might have.

Ouchdownthere Sat 24-Nov-12 07:00:38

Sorry - hit post not preview, apologies for typos and spellings.

Is it weight bear or bare? Perhaps my biggest question of all?!

mycarscallednev Sat 24-Nov-12 09:38:27

Hi my son was first flagged as having problems just as you describe - unable to crawl at 1 year, not able to weight bare, low tone, ligamentous laxiety [see without spell check I'm pants too!].
It took time as they had to rule out many things and in this process found many others.
He had delayed speech and due to his lax finger joints was unable to pick up and play with many toys - the heavier ones usually dropped onto him and made him cry!
We have since been told that all of these things are related to his various syndromes and diagnosis - the primary one of these being EDS.

Ouchdownthere Sat 24-Nov-12 10:23:09

Thank you mycars. That's interesting about the heavy toys, makes sense and obvious I guess, could explain why he only seems to like thin things. I will try and ascertain what the joints in his fingers are like.

auntevil Sat 24-Nov-12 17:27:34

I don't know if hypermobility and sensory issues are related.
DS1 has both. I know it makes it difficult to know whether the difficulties he has with walking are due to joints - tight hamstrings to support joints, or sensory tip-toe walking.
It might also be that getting into weird and wonderful positions is sensory seeking or resting achy joints - or a bit of both (circulation as well) Its all a bit of a mystery to me.
I do remember telling everyone blush that the reason DS couldn't stand/walk etc was that he was sooooo big for his age, with long limbs, that it was too much for a baby his age to be able to support with immature musculature. I suppose I wasn't far off grin

rockinhippy Sat 24-Nov-12 18:36:34

I find the Sensory issues interesting too, DD who has just been diagnosed with HMS, has had sensory overload problems since tiny, but she has exceeded all her mile stones, walking very early etc, though she skipped crawling completely & told me quite you that crawling was "ouch" for her.

I worried for a while that she might be AS or something similar, but she just didnt fit with that as she has always been very gregarious, loves people etc, but it was so bad when she was 3/4 with things like seams in socks, vests etc hurting her that I was tearing my hair out trying to find clothes that she would wear, thankfully she's very stoic & has worked out ways to help herself, but even at 10 she still likes her socks/tights bigger, so she can fold the feet back, so padded with no seams, & has to have seam free underwear, she can also really struggle in class with noise & lights, but thankfully her school have a great set up for SN kids, which they use for any DCs struggling with noise etc, so it's not yet been too much of an issue for her in class.

I'm sure I read of a connection somewhere too, but I can for the life of me remember where - if I do, I will come back with a link.

I'm feeling your frustration with Doctors again too -DDs Rheumy appointment went really well, really understanding Doctor who listened, took it seriously & diagnosed her with referrals without any trouble

Yet today I received my copy of her report to ourmGP, lists her affected joints - Hips, neck, wrists, shoulders, lumbar spine and ankles and links her IBS & skin problems due to intolerance of chemical additives to HMS - all fine - well not really of course, as Id much rather she didn't have to deal with this, but she is, so at least we've had an easy ish ride with the hospital - but it's bloody annoying to see the letter list her as having had pain problems for 20 months - not true - thats how long she's been dealing with back to back injuries, according to A&E all down to joint hyperextention - I wrote everything down so as not to have to discuss too much in front of my often over anxious DD, shes very bright and struggling with having a diagnosis, so I had to be careful or risk setting off her not sleeping & more IBS trouble - so even if I wasn't clear in the appointment, it was all there to read - properly documented pain problems since she could properly vocalise it after a stay in hospital at 5, DD says she has always remembered hurting, but only complained if it was bad, as she thought everyone dealt with it.

It pees me off as it makes our GP look like she's been on the ball, when she has been far from ithmm

Also, can I ask a couple of questions please -

would the hospital organise the OT appointment as we've heard nothing yet, but got the Phsyio through very quickly

I'm also concerned about the Rheumys advice on sport - she told DD that she can still play football, as her knees aren't affected (even though they click a lot) - but DD had yet another accident on Thursday - over stretched her hip joint & pulled her groin muscle as acresult - running playing sport sad

& thank you for the warm welcome up thread smile

auntevil Mon 26-Nov-12 20:53:16

Bit unsure on the physio advice.
Paed told us to let DS1 do plenty of sport - but it is likely that he will need to use supports at some point [wtf]
Physio has been doing some excellent exercise sessions, with just the right level so that his ham strings that were tight are now loose enough to improve his ability, but not too slack that they let him over extend etc.
This physio thinks plenty of minimal contact sport too - but classes football within this [wtf - again]
But, DS1 has seen a noticeable benefit in his ability to do sport since he started following her plan. So what do I know? Not a lot tbh. I think this physio seems to know her stuff. Since his core has strengthened, we have had less A&E trips.

Sorry I have been AWOL, I see we have some lovely new posters.....welcome. I will have a proper read through tomorrow and hopefully post some more useful replies.
Hope everyone s plodding on ok, we are ok, ds been not too bad recently had a flare up of his feet again though....

THC just out of interest do you know if an element of necrosis is common after a bout of Reynolds...... Des clearly has necrosis after his flare ups, will raise it with rheumie in New Years, but just wondered if you knew?

oh FFS! Just had a letter from physio department - they're not going to see her because neither the GP letter, nor the consultant report spelled out why they felt she needed physio. So they've decided she doesn't need any, despite not actually seeing her. Am fuming angry. And I can't get hold of the podiatrist to see if he will go and shout at talk to the physio department because he doesn't work on a Friday afternoon.

So, I need to go back to the GP and get him to re-refer setting out exactly where and when she has pain. And ignore that patronising guff in the physio letter about "children with hypermobility benefit from participating in activities such as cycling and swimming and encouraged to participate in PE". She does swim, and it hurts her knee, and she does PE except for when she faints and sprains her feet wrists and thumbs because they are all bloody weak, and need a physio to look at them and give her some sodding strengthening exercises.

And breathe.......

Anyone used a sports physio (I know we shouldn't have to pay for something which should be provided, but hey, it's only money wink)? Do I need to phone round and chat to different ones, or do they all do the same stuff?

(apols for rant, it's safer to do it here than on the phone to the physiotherapy department - that would get me banned from the hospital I reckon grin)

and I've just noticed they have her date of birth as being 2012. They are so useless!

mysleighscalldtrev Sat 01-Dec-12 08:48:59

Hi Midnight - is this a 'local' physio or a specialist?
Swimming isn't great if its not adjusted to Hypermobile/EDS issues. Breast stroke for example is hugly damaging as it puts pressure on the ankle, knee and hip, just at the point where they are prone to sublux.

They are better taught to swim as if treading water - but of course this means that they aren't swimmimg 'properly' to a standard most teachers expect. The same goes for cycling - this is really hard with poor core stablilty and the tight hamstrings that often go with ligamentous laxiety making the back of the legs really sore and many children find the motion of cycling very difficult due to the coordination needed with muscles and joints that do not respond as well as others.

Physios very often do not understand the mechanics of EDS and will spout out whatever they think - without following this through to the individual needs of the case thay have. Its so infuriating! Our local one asked me to'google it, and bring it in' - needless to say we don't go there anymore!

Physio at our local hospital mysleigh, home of RubbishPaed [sigh]
We're going to dump it back on Dr N and hope she's suitably unimpressed at her specialist experience being ignored to be able to sort something out. If only it was some of the gynae and endo consultants I deal with professionally, their monstrous egos would never stand for one of their referrals being refused wink. The physio wouldn't know what had hit her...

Join the discussion

Join the discussion

Registering is free, easy, and means you can join in the discussion, get discounts, win prizes and lots more.

Register now