EDS Hypermobility

[SparkleRainbow]

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

Orthopeafics is a dr reem been sent to see as ds hips are partly dislocated and sublaxes them most if the time want to bet he knows nothing about eds

Oh and point of intrest can have vascular if have hypermoblity to it's just the vasuclar takes priorty when classifying the type the hypermoblity symptoms are still there

ds veins run along his chest wall ,neck tummy face so seems it's litterally been staring me in the face

sparkle- hope you are ok and that you feel bit brighter today, i know how awfully hard life can be. hope today is better for you.

rtb4-iam really concerned about the vascular eds a lot of what you have said sounds very like my dcs esp dd1 i know for hyp type there isnt a actual test do you know if there is one for vascular type or is it just by symptoms again? this is all such a worry but i feel like i have to check esp as she gets fainting episodes and other symptoms that are sometimes a cause for concern.hope you are well today and that your pain has eased a bit, my sister was once told she could take 4 nurofen for severe migraine so maybe thats worth a try for your pain although id check with gp first just in case but if you could it might help as they are anti inflammatory as well as painkillers so might be better for joint pain

Ariane there is now a test for it they have identified a gene,hypermoblity type I's the only one that's done on clincal dx .Were being tested as well as booking ds in for ECG dd we know has heart problem but thad linked to her other condtions

She has something called alpha one antitryisum also immune defciency and bronchetsis so I seemed to have handed her a real shitty set of genes and seems done same for ds3 :(

Did call gp last night and took 1200 mg of ibruprufoen rather than does of 400 on his advice plus 2 dycodmal but of yo gp today get something else took me hr just to get up

Hi everyone, had a nightmare here too, and really feel for you all, why are all our stories so similar? Something needs to be done to get some more understanding of this condition. My son is being investigated for vascular, there is a blood/muscle biopsy test alongside family history and 'the vascular look', odd as that seems there is a recurring look to vascular type. They tend to be long boned and thin, with visable viens - large and small, with stretchy skin and usually internal problems, like the bowel/bladder issues of over stretching or lack of sensation. Heart problems are common too, with floppy valves. EDS people can have dificulty assimilating the nutrients from food and tend to feel full before others, as they are aware of the stretch of the stomach and get bloated and uncomfortable. Little and often is better, so we've been told, but my son has very little appetite, and this doesn't help with muscle building or stamina to carry on. The forced home schooling that we are doing has made all his symptoms easier to deal with and now I'm not sure if I want him to return to any school and face the trauma that it all entails. We have had knees giving way and subluxes,total exhaustion and times when he couldn't stand, but he is now with me all the time and it has been so much easier to manage. I'm dreading him going back to leaving it all in the hands of people who just don't get it. Next time I swear, until I am certain that the school understand and have as can do attitude he won't be returning. It would appear that an SEN isn't worth the paper it's written on, the school say one thing and do another. They should see the pain our children go through just to get through a day,and to be honest no painkiller can touch it, or work quickly enough. Heat helps if he is awake and can feel the pain coming on, and all we can do is calpol/nuerofen - but it doesn't do a great deal. We are with the pain clinic at GOSH, but getting a six year old to go to a 'happy place' when they are writhing about in pain is a tall order! I'm told it's practise....along with all the OT, Physio, catching up on the education that the system has failed on,....and somewhere finding the time to just be a child....[serious moan, sorry!] xx

Moan away ds just been for physio and told them of dx yet there like oh thought neededstretchy skin they know feck all about Eds tried get him to do wheelbarrow game duh he can't push his arms up take weight on his hands uses forearms and even then collapses after few mintues

Now as his mum I know stressing joints like that is not good as will make shoulders go but no they know best !!!!

Am hoping talk to orthopeadixs next Weds and ask them for referal to gosh infact going to demand one and a physio that knows what there doing

Though ds now finshed block probably no more this year from this incompetant lot !!!!

Yeah like to see them tell ds to find happy place he would not understand it

he is very good at looking like coping as is a cheerfully littlte boy of course it cones out at night though and he is just ti tired after schol for any physio weekends pretty much write of to

just had funny moment one dr last night told me take more nurofen one today's saying no that is far to much only half of it shows how differnt treatments are when 2 gp can't agree and that's with me as z adult able to say

Hello, sorry have had a bit of a week here so haven't been on MN much. Didn't want you all to think that I'd forgotten about you though

RTB4, dd's physio wants her to do the wheelbarrow type exercises and push ups (!) to try to build up the strength in her shoulders... I have visions of dd at A&E with a dislocated shoulder, a bloody nose and black eyes where she's gone flat on her face trying to do that!

Mycars, warm baths are good for the aches and pains. Like you say though, this doesn't work if the pain comes on in the middle of the night.
I know someone that has a hot tub (unfortunately, they don't live near enough to us so dd can try it though).

Does anyone here manage to keep up with their dc's daily physio, or is it just me that finds it difficult?
It was easy during the holidays, but dd is too tired and emotional after school to do her physio, and if she did it in the morning she would be shattered before school starts.

No physio done at all here informed them that can't do before as ds is picked up 7.30 ANC he is not home to 4.30 and have enough problems getting him to eat let alone anything else last night he fell asleep head on table waiting for ice cream at 5pm

But he is waking in pain quite a lot serious enough to have him screaming and muscles spasms

Thanks guys for your messages of support. Still struggling to come to terms with the fact that there is no expertise out there.
....and guilt

Ariane - fainting spellis could be connected to EDS hypermobile type if also have related neurally mediated hypotension.

Mycars - long thin bone structure, needing 5 small meals a day, feeling full quickly, floppy heart valves. Could be describing me (well except for the thin bit, but I was before dc ) and ds.

rtb4 - I agree standard pain killer doses don't touch the pain do they. I can't take NSAIDs anymore which is a bummer, no point in taking just paracetamol, sometimes codiene helps though. (And "think of a happy place" my elbow ) ds did suffer from muscle spasms for a bit US paed suggested increasing fluid intake, I am sure it was eds related but maybe that helped, maybe he just grew out of that phase to return at a later date.

deepbreath - we do do daily physio morning and night, have to get up early to do it, but it is the only thing that has stabilised ds spinal injury. Made easier by the fact that altough we are 6 plus miles from school I am not working so drive dc there, don't have to leave until 8.30, if had to get school bus it wouldn't be possible.

Hi everyone

only just seen this thread and am full of cold so really arent up to reading it all tonight, but will catch up

Briefly, I have EDSIII myself, and my DS2 who is 2.5has it also. He has been under the paed since 14months, had physio and orthotics since 16 months, occupational therapy and lots of tests. We have just had rails fitted in our home, and are in the process of DLA decisions. DS2 can walk, but falls a lot, is often in pain and has behaviour problems because of it all.

We have been extremely lucky that we have had supportive Paed, Physio and OT, and the council have acted very quickly with rails and things (2 year waiting list actually turned out to be 5 months in our case) My HV is also fantastic and the one pushing for DLA.

Will catch up fully laters!

Oh, and our Paed referred us to GOSH, but they replied saying they no longer took on children under five who had EDSIII, only those with the I, IV and VII

hi hope you are all ok

rtb4- with the 'typical look' of vascular eds sufferers is it true about them having very large eyes? i keep reading it when trying to research and am v v worried all 3 dcs have HUGE very blue (even whites of eyes are bluey too) eyes that absolutely everybody comments on despite the fact that me and ex have both got normal size brown eyes. i was just a bit concerned if it is a symptom that i had overlooked. me and ex both have hypermobility type so surely it would not be possible for dcs to ever get a diff type if we both have same type??? its so confusing i had a look on genetics website but just got muddled trying to work it out.

As for daily physio-its an absolute nightmare! ds has to do his back exercises ev day they stopped the other physio till his back prob has been investigated (mri at gosh on 6 oct)dd1 has to do about half an hr every day for legs shoulders back and posture exercises due to chest prob making her grow wonky and it takes nearly an hour and half some days as she hates doing it and says it hurts.its a real struggle i know its important but i am finding it hard to get everything done there really arent enough hours in the day.

Iam so glad its the weekend no getting up extra early for a couple of days at least. i have been getting absolutely exhausted day to day and seem to need to sleep at 2pm every day but cant as have the 2 little ones at home and then have to do school run so spend half of every day like a zombie.

Sparkle-dont know if this will be of any help to yo depending on where you live but there is an eds specialist clinic at norhwick park hosp harrow in the kennedy galton genetic centre, they are very good there me and kids have been seen there a lot, it is one of only 2 such clinics in country the other in sheffield i think, it has been hard to find the right support and even now i still struggle but they are good.hope it helps might be worth a try

Ariane - The genetic message I have been given (from Prof Grahame) has been quite definitely that EDS hypermobile type is autosomal dominant, which meansyou only need one parent to pass on the gene and you will have it, you can not be a "carrier", 50/50 chance with every child (assuming you yourself have only one copy of the gene presumably that comes from me not the genetics) If you and dh have both got ESD hypermobile type then you should only be able to pass that on. I have seen on the internet some talk of resessive genes in eds hyper too, but still everything says it stays "true to type". Having said all of that we know that some drs don't know enough to be actually making informed judgements.

The vascular look is interesting, both ds and I have large eyes, my dd's not so much.....makes you wonder doesn't it.

Thanks Ariane for the4 info re the specialist units, I will do a bit of researching.

Hi smokinaces nice to have your company, come and talk to us when you are feeling better.

rtb4 - hope your pain level is better today, sending you virtual pain relief, choccie biscuit and a cup of tea.

Baby is poorly today, so might not be able to get back on today, have a good weekend everyone.

yes it was the recessive gene thing that was bothering me i didnt fully understand a lot of what i read i was panicking that me and ex might have both had some recessive gene with hypermobility type that could mutate into vascular type ,it was all a bit confusing what i was reading! i think i just panic about ev thing now, i read a few symptoms like large eyes,visible veins etc etc and it worried me.iam prob being completely paranoid sometimes i feel like iam going loopy with all the stress

Pretty sure you don't need to worry about the recessive hypermobile gene mutating into vascular (surely none of us could be that unlucky!), but I know how the paranoid feelings set in, think I am loopy with the stress too, so you are not alone.

Remind me again what your next set of appointments is about/who with? What stage of dx are you and dc at?

they have said that me, dd1 and ds have eds hypermobility type, dd1 also has pectus excavatum (chest prob), and faints due to what they have called intermittent tachycardia.ex has also got hyp eds.dd2 feels very loose jointed/clicky etc and was born wiyh dislocated toe so looks like she is same.
ds has been getting severe back pain, cant walk, screams in pain.hes having mri and x ray at gosh they said his back is v v hypermobile and hardly any muscle, they said the vertebrae are slipping about causing the pain and pins and needles that he gets a lot.
every dr i have seen always had said def hyp type but i think from reading so much i have worried myself sick that it could be vascular im sure im just being paranoid as they are all so bendy and dislocate so often it must be the correct dx.ds apt are 6 oct so hopefully they will help him hes in a lot of pain.

Is he having ga for the mri? Where abouts is his pain focus of back pain? My ds used to get pins and needles and cramp a lot, think it was due to lower back pressure on the spinal column - didn't know that at the time though, have worked that out later. Is the intermittent tachycardia related in anyway, or do they think it is an unfortunate but unrelated condition? I am so sorry you are facing this.

yes, ga for the mri which worries me, he had one nearly a year ago as he gets severe migraines but it was under sedation not ga and he reacted horrendously to it went completely mad screaming trying to get away, fighting,slurring,stumbling about,it took me and sister to hold him down as he was in danger of hurting himself.am worried this time as the nurse at gosh said they have to be careful as a lot of the medicines they use for ga are based on egg white which he has a severe allergy to.has to be done though, his pain seems to be mid way down his back when he screams and i try to get him to show me where it hurts he vaguely gestures to that area,he also has funny habit of piling up pillows under his tummy and lying on his front saying it makes his back better,physio said it was his way of pushing spine back out as its so hypermobile and always bent inwards when he stands or sits.he has had pins and needles for a while sometimes quite badly but i had put it down to a symptom of the migraines as i used to get that with mine, i had no idea it was actually the back prob causing it.when he saw the dr and physio at gosh they said how little muscle he had on his back and how hypermobile it is and that if it doesnt get sorted out he will get to the point where he cant support his own body,his core muscles are weak and at first they thought he had scoliosis but it was just when they examined him and moved him the vertebrae were slipping about making it look like he had it.its all very worrying,i hate him being in pain and am worried about him having ga hes so sensitive to so many things and im scared.

dd1 had investigations, ecg, heart scan etc they just said sometimes her heart goes fast for no reason and thats why she faints and goes blue they didnt think it was directly due to her eds or pectus excavatum but couldnt give me any other explanation to it other than 'sometimes it happens' they checked her iron levels for anaemia etc but was all normal i think its just one of those things they dont understand, it still bothers me but doesnt seem much i can do other than avoid her triggers for fainting which seem to be getting up too quick, over exerting herself or when she is unwell.

dd2 is getting clickier and more hypermobile by the day, every time i pick her ou her back clicks and cracks,when i change her nappy her ankles and knees click and feel like none of the joints are connected properly,she was born with a dislocated toe and im starting to despair of what my kids have to go through it seems so unfair.doesnt help that weather is turning now as every winter they catch every bug and virus going its awful i dont know if any of it affects their immune system but theycant fight anything off every cold becomes a throat/ear/chest infection they really suffer every year.

Right Ariane, what can I do to help your stress levels.....? Hope this helps. I have done a lot of research about neurally mediated hypotension www.blood-pressure-updates.com/bp/low-bp/low-blood-pressure-treatment/neurally-mediated-hypotension.htm and although I am not doctor I would stake all my chips on your dd1 having either this or postural orthostatic tachycardia which I have linked below. It is directly associated with EDS hypermobile type, you have described exactly what I do, especially getting up too quickly, being in too hot an environment and being much more likely to suffer with it if I am unwell, stressed feeling depressed etc. There is a new eds website I found it might help. www.ehlersdanlosnetwork.org/hypermobility.html
It also talks about postural orthostatic tachycardia, en.wikipedia.org/wiki/Postural_orthostatic_tachycardia_syndrome Most importantly the heart is completely structurally normal. I spoke to my ds's rheumatologist about this last week, and they admitted that checking bloodpressures etc is not something they would automatically do for EDS sufferers, but would if asked or symptoms presented. I would ask them to, and ask them to tell you what is the normal range for a child of your dd1's age and size. Now my Rheumatologist said that there is medication available to counteract this, something that is regularly used in Germany, but not in this country as there are concerns that it may damage the heart, no evidence though. I wouldn't think that you necessarily what to medicate her for this, but I do think that you want to know what is happening, and you like me are cheesed off with medics fobbing you off becasue they do not know what they are talking about.

Remind me are you seeing a rheuamtologist at GOSH, if so how about writing to them directly and ask them to see your dd1 to confirm that this is a related EDS condition, then they can monitor it, and provide you with some management advice. How does that sound to you, I can't stand the idea of you stressing over what is going on, I know how that feels. Does this help, plaese feel free to tell me to shut up, no offense will be taken

My ds and I both get severe joint pain if we have a virus or a fever....what is that about? No-one has ever been able to tell me, but it is like any virus that takes hold causes inflamation in the joints, affecting the most hypermobile ones the wors and it is agony, does that sound familar to you Ariane, or anyone else? I have to say I am guilty of doing exactly what your ds does by lying on pillows to stretch the spine back the other way, it really helps me, I can actually feel the vertebrae separating ....sorry too much gross infor

When I was organsing the MRI for my ds I spoke to the mri supervisor directly, and he contacted the anaesthetist for me. They said that sedation normally did not work for children in these circumstances, and they describes exactly what happened to your ds. They said ga was the only way to go, but they can adjust mixtures that are used to get a light ga. It must be possible to get the medications adjusted for your ds's allergies, it is a matter of them knowing, and you being confident that they know. I know they had to be ready to adjust medications for me when they were worried I would need a cs for dd1, as I have an anaphaltic allergy to NSAIDs which are always included in the drug "cocktail" they give surgery patients. Try and put your mind at ease as much as possible about the ga.

Have I helped or should I shut up now , I hope you are all right.

thankyou you have helped loads it is so nice to have somebody who actually understands as ive been geting a bit fed up of trying so hard and yet never getting anywhere with anything.it seems to be one setback after another.

dd1 seen in same clinic as ds dr pilkington rheum at gosh but they saw her in prof elliotts cardiac clinic about the fainting as they wanted to see if it was because of her chest prob but he said it wasnt, had various tests done at harefield hospital only one that showed anything was 24 hr ecg but just that she has fast heartbeat sometimes, first time she ever fainted (in morrissons!) i called ambulance and paramedics said her pulse was way too high she was in hosp for just over a day and they couldnt get to bottom of it and to be honest they didnt seem that bothered which really annoyed me it was a case of 'we dont know why she fainted and went blue but the tests seem ok so go home and just forget it'.

thankyou for all the info i will be having a good read of it all later have already had brief look at couple of links.iam really grateful for the help and support thankyou ever so much it is very much appreiciated

You are very welcome, I hope you find some answers in it. Howe is your day going painwise today?

Blooming Nora, Sparkle - thanks! I think you've just solved my dd's mysterious cardiac issue that has been ongoing for around 4 years!

Dd has bouts of tachycardia/going blue round the mouth for no obvious reason, it has even done it when she has been asleep, but they are more likely to happen if she has a cold or something. It sounds suspiciously like POTS... very odd as dd has been under a cardiologist since she was born, and despite having a Holter monitor on a few times, they have never worked out why dd's heart rate shoots up.

I have clocked it at up to 180 BPM at rest, even when she has been on Beta blockers/ ACE inhibitors. Her aorta was quite unstable at the time, they also discovered a minor heart murmur and a slightly floppy mitral valve, but said that none of this would cause dd's symptoms.

Ariane, the hospital has been similarly unbothered about my dd's heart racing and funny turns, which I find quite disturbing given that dd has Marfans and the cardiac probs. that go with that. It was suggested that it could be panic attacks, but I pointed out that it could happen at any time.

I have found ways of helping dd cope when it happens - I encourage her to cough, or give her an ice lolly or cold drink. I think they are meant to stimulate the vagus nerve which helps to regulate the heart rate... might be wrong about that, but it does seem to help.

yes they asked me was dd1 being bullied at school and did she have anxiety probs it was awful i was terrified as to what was wrong and here they were trying to make out she had hyperventilated or something they made me feel really small.seems to be the norm though from what you have said they just arent that bothered.it really scared me as one minute she was ok and next she had said she had a pain under ribs went blue and fainted, the paramedics were concerned but once at hosp it wasnt the level of care i had expected they were very dismissive.since then she just has a lie down at home,have to be very careful with bathing though as couple of times a slighty too warm bath made her go all funny heart racing and nearly faint again.

Iam not having a good time pain wise arms are still realy sore from having to push buggy/lift kids in and out of bath etc, have been wearing wrist splints, taking nurofen and trying to rest but all 3 dcs have nasty colds at moment so want even more atention than usual! i think they are just going to be like this now i have pushed myself a bit too much over the last 18 months split with ex, moved house and had the baby and suddenly feel old and achy every day i think life with 3 kids is hard at best of times but how things are here its verging on impossible i have to push myself every day to get through the pain or the exhaustion and its difficult having any sort of social life as the only topic of conversation i have seems to revolve around eds and all the other probs me and kids have which is why its so nice to have all of you to talk to as i dont have to feel like iam boring anybody and it gives me a chance to get all my worries out and talk to people who actually understand and care.thankyou