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.

Hello, can I add my experience with DD to this thread? She is 2.3 and has fairly severe hypotonia and hypermobility, along with an underactive thyroid that was only diagnosed when she was 8 months old. She's not yet able to walk but is getting regular physio which seems to be helping. The doctors think she'll walk eventually.

She was a very floppy and lethargic baby and took ages to hold her head up. She was only able to sit unaided around her first birthday. Her under active thyroid was only picked up when the paediatrician suggested we did some general tests to find out what was causing the floppiness. They discovered she was slightly low in the T4 hormone which isn't picked up in the heel prick test at birth. As soon as we started her on the medication to bring her hormones up to the normal level she was like a different child - I mean, within hours. She was far more alert and active.

In all other areas of development apart from gross motor skills she seems to be in the normal ranges for a child of her age. She seems to be in the 'younger' end compared with her peers but that may be because it took so long to get a diagnosis of the low hormone levels and start her on the meds. We're getting SALT, OT, portage and physio - our attitude has always been to take whatever's been offered to us.

We still don't know the cause of all of this and whether the hypotonia is linked to the hypothyroidism. We had some genetic tests done and all her genetic information is intact but to find out more they'd have to do more invasive tests like skin biopsies, which we decided against for now. We've just had another little boy and he doesn't have any of the issues DD had at his age, thankfully.

Thanks for reading this far! It would be great to hear from anyone who recognises these symptoms, and hear about your experiences. It's been a really worrying time for us but fingers crossed DD will get to where she needs to be if we're patient and continue to give her support.

Razamataz - DS2 has hypermobility and hypotonia. He sat at 16 months and walked at 2y 10m. We're waiting for the genetics results at the moment for the cgh microarray.

I haven't posted in this thread for a while. It's run away with me!

A huge brag for DS2. He's finally learnt to use a spoon at 5 1/2! Before, he'd fumble it and very quickly lose confidence, as he got more of his yoghurt on himself than in his mouth. I insisted he had another try himself, the other day and he was fine with it. The difference is, he's now able to use both hands together, one to use the spoon and the other to steady it. This is huge for him!

I filled in a referral to the local movement disorders service, yesterday, anyhow, so hopefully school will get something useful for him out of that.

As for myself, I'm 2/3 of my way through a course of hydrotherapy. It's been fab for my lower back, but hell on my feet and knees. I've asked my GP to be allowed to take naproxen again when I do this sort of thing, because despite the fact I walk miles every day, I'm struggling with simple little exercises that people 20 years my senior can do loads of. I also saw a podiatrist this morning who said that my feet are beyond repair and are unusual in the way they naturally twist, but he can order some insoles for me that will support my heels and hold the rest of my feet in a position that feels more natural for me and take some of the strain off my knees.

My dcs have low tone and are hypermobile but have no SEN or developmental delays: it is purely physical.

Thanks for your response elliejjtiny. Fingers crossed my DD gets there soon with the walking. Her physio appointment today went well and she'll be graduating up to the next walker in the new year.

thanks cory, do you mind my asking your DCs ages? Have you seen improvement over the years? I am contented with DD not being athletic never having had any sporting ability myself and I think she is improving. I don't admit it in real life, but I worry a bit about her stamina for sitting and writing. I was hopeless at sport, but at least was good at exams!

Hi, hope everyone is ok. I just read on facebook that another one of my friends who have babies the same age as ds3's child is walking. They are 11 months old, this baby is walking and ds3 isn't sitting yet. It doesn't normally get me like that because ds3 is small for his age so he is only a little bit behind the babies his size but for some reason it has this time.

Glad I found this thread, as i'm after some advice, and it seems like you lot will know .

DD2 (13) has (finally) been diagnosed with POTS (you may have seen some ranty threads from me over the summer re unhelpful medical people), and research threw up EDS/JHS, and a lightbulb flashed. According to the Beighton criteria, DD scores 7/9, and has several of the minor things on the Brighton list. She does't have joint pain (at least not that she notices, but then again, she doesn't notice when her heart rate shoots up from 65 to over 130 ). But, she has flat feet, turnign in ankles and the start of bunions, and can "pop" her hips and collar bone. Also, although she can turn her hips out at ballet, her knees don't turn out at all, so her legs look quite strange with feet in first position, but knees pointing forwards!

The syncope nurse specialist mentioned JHS when we saw her last week, and suggested I raise it with the cardiologist when we see her next month, but in your opinions, does it sound like DD has (mildish) JHS/EDS? Neither her dad nor me are hypermobile (although I can put my hands flat on the floor with straight legs, even despite the belly ), but my mum was born with dislocated hips, and both DD1 and DD3 are quite bendy. DD1 suffered really badly with uveitis last year, which is linked with rheumatoid arthritis (which she doesn't have), but as JHS is also a rheumatology thing, I wondered if that could be linked?

What I don't want to do is start producing a list of What I Think Is Wrong (even though I was proved right about the POTS, which I diagnosed six months ago), as our local hospital has me down as an over-protective mother, and the current paediatrician decided it was all in DDs mind and sent her to a child psychiatrist (who in fairness is lovely, and is working with her on stress-related stuff), but as her diagnosis/treatment is supposed to be coordinated by a paed, I'd rather have one who does't wash his hands of her before he's even seen her, as this one did. So I need to be pretty sire of my facts, and whats' related and what's not, beforehand.

Apologies for the length of this, any help/thoughts/suggestions welcomed! You were all fab on my thread over here in SN in the summer, and really helped clarify my thoughts as to what I was cross about, and what I wanted doing.

Hi Luminescence - I am glad to hear that you and your dd are managing the hypermobility so well. I believe a definitive dx can be helpful so if you ever needed more support in the future it would, at least in theory be faster to get it.In reality I am not sure it matter too much, if all is well now. As for the heart check, only a few people get the mitral value issues, and so if you have no symptoms, or problems I wouldn't worry, but why don't you talk to your gp about it all.

Wonderinglonely What you describe could be an eds/hypermobilioty type for some of your dd's symptoms, but not necessarily all. However ne conditions does not preclude another....unfortunatly. My ds has significant gross motor skill issues, proprioception, coordination, disloactions, subluxes and alot of pain. I don't see any reason why the extent of your dd's hypermbolity couldn't be bendy and badly coordinated though....does that help?

Razamataz - My ds didn't have the thyroid problems your dd has had, and he is not affected academically at all by his condition, and yet he is still so far behind in terms of his gross physical development. He is now 8, he struggles with running, can't ride a bike, struggles to use a knife and fork, although he has mastered the spoon and fingers! The input he has had in the last six months from physio and PDSS has been fanastic at moving him forward, he may always need to use a computer at school, but he is so much better and so much happier than he was.

Ishallwearmidnight POTS is a frequent side effect of EDS and so probably JHS too. I know that my local hospital thunks that I am too pushy...but past caring because I have been right every time. I do have the support of an excellent GP though, who is always on our side. It does soud like it could be JHS or EDS, and you too if you can get your hands flat on the floor!!!!!! I think you need a rheumatologist who specialises in connective tissue disorders. They then can send out to other specialists such as cardiac and manage the whole child.Well that is what is supposed to happen we can live in hope!

Just for the newcomers. I have EDS and so does my ds who is 8. I have two dd2, but they both seem clear. My ds has a hypermobile spine, hips, ankles, toes, fingers, and shoulders. He is frequently hospitlaised with disloactions, he has poor coordination, poor gross motor skills, falls frequnetly, and lives with some level of pain constantly. He has lowblood pressure and high pulse rate like me (Neurally mediated hypotension), he also experiences pressure on his spinal cord frequently causing incontinence, dizziness, vomiting, loss of sensation etc. His learning is ot affected in any way.

a christmas bump to make us easier to find.

hello again ! sorry i have been away for so long have been so busy with appts and school again that have barely turned the computer on.Iwill have a proper read and catch up later as have to go out in a bit so am rushing today.

Havent had a good couple of weeks iam in a lot of pain with my ankle a vein keeps bursting and leaving the whole of my foot covered in a huge painful lumpy bruise and its making it hard to walk.

apart from that things are not too bad, dcs unwell again the ususl temp/sore throat/virus type thing they seem to get every winter and ds has two swollen bruised knees after a nasty fall on friday.Had my 20 week scan on friday, my sister came with me as dp was 'busy' (things not going well there but im persevering as hard as it is ).Baby was fine but placenta low lying and over my previuos scars so i will be re scanned and have an mri at 32 weeks

hope everybody is ok will try and get bnack on later

Hi

I've got the Gt Ormond st 2 week rehab with my son at the end of Jan for Hypermobility.

Any advice? He also has Asperger's so I am a little worried about leaving him with therapists he doesn't know!!

I have not been to GOSH, despite pleas for a referral, so can't help specifically, but others on here have more direct expereince. Hopefully they will be along shortly. I am sure they will accomodate his aspergers, perhaps you could stay for the sessions? How old is he?

Merry Christmas to everyone. I hope you are all ok, and wish you as pain free and restful festive period as you and your dc can manage.

Merry Christmas Sparkle. We've had a tough week with various things but it was amazing to see DS2 walking around this christmas when last year he couldn't. DS3 is getting there with his sitting and can do it with minimul support now.

That is a super Christmas present Ellie! Well done to ds2 and ds3!

THC....have you moved in?

Hope everyone is ok. I am making ds do lots of the balance board as the physio said to, and he is doing quite well. Also he has only fallen off his xmas scooter half a million tmes since 25th (you think I exagerate!!!) but he is loving it.

hello, hope everybody ok.

I havent been on in a while, we have not been having a good time. dcs all unwell and on antibiotics over the xmas week but better now. dd1 has got terribly painful legs and gets upset every time she has to go up the stairs, she has also lost a fair amount of weight and is sleeping lots and looks exhausted.

ds has been getting pain in tendons/ligaments in back of knees.Got physio and orthotics appt for both next week so hoping they can help a bit.

Iam in a complete and utter state one ankle keeps swelling up as a vein is swelling then bursting every few days which is excrutiating and my whole foot is purple, the other foot i cant put weight on or walk properly as i have inflammation in the tendon running from big toe over the top of my foot and if i put weight on it my leg will buckle.
Spd has started already and every morning i have to spend the first 15 mins bent double trying to walk around as the right side of my uterus is completely tight and agonisingly painful, i think where iam trying to sleep on left side as reccommended iam straining my muscles every night ?
I have to have a gtt blood test next week as the baby is measuring big already (im 23 weeks) and i really dont know how im going to cope this time i can barely do anything, everything is painful.the extra weight and a big baby are not helping!
dp has been really nice though, we are still having a few problems but have been having counselling and it is looking promising.

Im off to my mums today, the dcs are back at school tomorrow but im going to try and drag myself over there as i hate being on my own when i am in so much pain and cant do much.

feel so so fed up i spent the last 3 days bursting into tears at everything iam not used to this level of pain and i feel frustrated and useless.I have hardly slept and its not helping.

sorry for such a long grumpy post.

ariane I'm sorry you feel so awful. I tend to have a weepy stage at about 20-25ish weeks. I also had spd with ds3 towards the end, which was bad enough, I can't imagine what it must be like having it from this early. Does swimming help? Although that's easier said than done with dc's. Sorry for the rubbish advice, probably similar to suggesting ginger biscuits to someone with hyperemisis.

DS2 whinges and eats a lot of toast when his eds is flaring up, think it must be an age thing.

Hi Ariane and Ellie, sorry I have not been around, and have to rush now and get dinner ion the table, but I will come tomorrow and answer properly. I just wanted to say, I too remember feeling dreadful third time around at about 20 plus weeks. Big hugs ariane, you will get through this and have a beautiful addition to your special family. In the meantime, moan or grump away with us, that is what we are here for.

I will reply properly tomorrow, take care.

Hello Sparkle - I thought i'd put a question in as well - just to keep you even busier!
DS1 has got a community paediatrician appointment coming up and I need to know what to ask for. This summer he was dx by OT with SPD and hypermobility and Somatodyspraxia - as an extension to the dx of dyspraxia previously. I have looked up the classic - and not so classic symptoms of EDS and have serious concerns - he ticks a load of boxes.
The history between me and this paediatrician is not great. We often agree to disagree. If she agrees with me that there are concerns, who will he need to see, a rheumatologist, cardiologist ? Which should be the first appt.?
If she doesn't agree, when I go back to the GP, who should I ask them to refer me to?
What else should I make sure happens? I am going to note down all the information that i have, what else do I need to be asking?
All advice welcome.

Right, back to post properly.

Hi Auntevil - You need to request a referral to a rheumatologist as a first step, either from the paed if she will listen, or if not go to gp and request one. If the paed is co-operative you can ask for a cardiac referral too, but if not you can follow that line through the rheumie. Traditionally the care of a EDS/BHJS child with cross medical disipline involvement would lie with the Rheumatologist and they then refer of colleagues in other medical areas to assess other aspects and report back, so the rheumie runs the show so to speak. I have bipassed my ds's rheumie as he is so far up his own rear end he can't see out most days, we go via ds' paed who is lovely. So my advice would be to choose the medical professional who is most supportive and helpful and ask them to refer on where necessary, that can even be your gp if you rate them. I would ask for a referral to a rheumie who has experience of paediatrics and connective tissue disorders...someone meeting that criteria should exist somewhere in the region. I would then take with you a list of your ds's symptoms, and a list of all the boxes you have ticked in your research. Tell them everything as it can be difficult to know what symptoms maybe and may not be related. If you want to pm me I might be able to help you find good links which relate to your ds' particular symptoms.

Ariane - I do hope you are feeling a bit better today. Make sure you are having enough resting time, especially now the dc are back at school. Putting your feet up is more important than house work for instance. Ellie suggested gentle swimming, how about that and some warm baths to try and ease those sore joints and ligaments? Don't panic too much about being told you have a big baby. I was told that too for dd1, and she turned out to be fine 52 cm and just under 8 lbs at 1 week early, and not the giant baby they measured me as having......it was all fluid I think.

Hope everyone else is ok, we are doing ok, ds is back on an even keel after the xmas rest, lots of physio, motor skills work and hydrotherapy planned for this term.

ariane just adding that I had several growth scans because the registrar thought ds3 was going to be huge and he was 8lb 12oz at 2 days late. DS1 and DS2 were similar sized. I lost 8lb in weight when my waters broke though so must have been carrying a lot of water.

Very similar then Ellie, I think dd1 surfed out on a tidal wave....dd2 as well come to that!

Must be a thing about mums on this thread - I carried a tidal wave with all 3 of mine. although at 9lb 8, 10lb 8 and 8lb 12 (3 weeks early) mine were quite a size for a titch like me. But the human body is amazing and its impressive what we can squeeze out!

My waters broke before labour began with ds2 and ds3. With ds2 we thought labour was about to start and so dh stayed off work and wasted a lot of his paternity leave. DS1 went off to stay with the inlaws and I got into a right state with it all as ds2 didn't arrive for 4 days. With ds3 I was determined to stay calm and carry on as normal but my waters just kept gushing and I was worried that even with a size 5 nappy in my knickers I would leak on the school run! Thankfully ds3 arrived 2 days later so not too bad.