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.

ds1 had his second day at secondary school, he has already decided he doesnt like it !

ds2 went back to junior school today for the first day in yr 5

i take him in the car with his manual wheelchair and he transfers to his power one for school, then comes back in his manual

his wheelchair use is not related to eds though

dd1 is at college as we speak for her induction day for the second year of her a levels

dd2 is home educated atm (she has been since she started yr 7, and would be in yr 9 now), but we both think she is ready to go back and it is a good year to get settled before the hard stuff starts, so we have filled in the application form to readmit her, just got to send it off now

Good luck with school place for dd2 and secondry school is such a shock can remember when ds1 and ds2 first went

lou we have same with ds it's how much is the cp how much is the hypermoblity and how much is something else

ds has a powerchair as well but use it for days out etc he loves it and the freedom gives him he even manger to drive round natrual history museum without hitting anything or anyone

Ds fell out of bed last night and hurt his neck, had to sleep in his collar all night, seems a bit better today. My dc don't start back until Wednesday, so one more day to go, I shall miss them, and am dreading ds being back at school and out of my control in terms of his levels of pain etc. Still he loves it.

Had a phonecall from the SENCO today to catch up on appointments we have had over the summer, which was good of her. She has organised lunchtime supervision for ds and is working ongetting him able to go swimming with his class, with an additional adult in the water with him. We just have to hope that the Swimming service will stand by their pledge to facilitate all children being able to participate irrespective of their disabilities. My worried that they will not allow him to join in in case he dislocated his neck in the pool.

ds2 has always had someone in the water with him for swimming

Who had to pay for the extra adult, the school or the swimming service, if you don't mind me asking?

I am not sure tbh i will find out. I think the schook secured funding after i refused to pay for lessons that would not have been suitable for him

Sparkle how's ds neck ?

Well ds enjoyed the unit but me thinks he overdone it

was asleep before taxi left the grounds,then came hone had to help him eat his dinner then bath and bed as was worn out but he has had me up at 11 pm then 1am crying signing hurt but can't say where

Poor boy, how was he feeling this morning?

ds seems better today, a little stiff, some restricted movement, but much better. I am not looking forward to tomorrow, think I am probably the only mum around here not wishing for school to start, it is just so much easier to control his pain levels, and he just doesn't hurt himself as much at home. Am trying really hard presenting a positive image about school, and seeing his friends etc, he is looking forward to it.

Hi everyone, room for another?! Have been away on hols,amazed to see how many EDS's there are! Up until now it only been the EDS support group that I have been able to 'speak' to- this is great![If you know what I mean, not great that so many are struggling, but that we are here for each other!] We've been through hell, like everyone else here, 5 years to get diagnosis, then up to GOSH and EDS3, with spina-biffida oculta, and possible vascular cross-over. We're awaiting an appt at Harrow for Genetics at the moment. We've had [eventually] exellent support from OT, physio and pain psyc. at GOSH, but localy its a joke. With the help of SSEN we now have OT here, but am in the process of taking my sons school [he's 6] to Tribunal for lack of supporting his SSEN and for discrimination under Disability Discrimination Act and the Human Rights Act - Access to Education, it's been a nightmare. My son subluxes, is in pain all the time,has the most horrendous amount of laxity in his fingers, knees, elbows and ankles,has bowel/bladder problems, but the school disregard this. We are now home educating him until a new school is found. He now has anxiety and frustration thrown into the mix as far as anything to do with school is concerned, but he is gradualy coming round to this at home. My son subluxes at night and wakes up like an 'old man', falling out of bed, stiff and jerky in his movements first thing. The tirdness is a huge feature and relects on everything, we are now on 'pay back' from our two weeks in Cornwall, with tiredness, a cough/cold and an inability to cope beyond the very basic of activity.
He is on the GOSH physio rehab. programme, now usisng 4lb weights but this is hard going and takes a lot to make him do such painful physio each day. I find it hard when people look at EDS and say, well you look OK, as if you'd rather not, or if its better to have a disability that can be 'seen'. I think it's in some ways as hard to have an 'invisable' disability, you find yourself constantly justifing why you have a blue badge/wheelchair, or why your child is withdrawn and pale.
It helps when there are others who understand, thank goodness for the internet eh? xx

Great that you have joined us mycars. It is so reassuring isn't it to know that we are not alone in coping with this. Have to say that my ds subluxed (if that is not an actual verb I hereby claim it for us!) a lot in his sleep, or when resting/sitting at the age of 5 and 6, but that is not as bad now. I always wondered if it was a growth spurt thing, he did do a big shoot up at the time. What bowel bladder problems does your ds have (if you don' mind me asking) I am intrested as we are trying to work out whether my ds's problems with urinary incontinence are a result of his spinal injury due to eds?

Would also be interested to know about the bladder problems! Our ds1 doesn't have major problems - is only wet at night and really can't hold on to a full bladder - little bits leak out if he tries to hold on (this isn't a problem during the day any more, as he is awake to go to the toilet before his bladder gets too full and is aware that whilst other children can hold on for quite some time if they have to, his willy will start to drip once his bladder gets to a certain point!). Ds doesn't go to the toilet abnormally often, so it isn't irritable bladder - just a weak bladder, which seems to suffer from the same muscle tone problems that affect the rest of his body.

ps has anyone else had to go through having their child be given several botched lumbar punctures, because no-one would listen to their concerns about their floppy baby when it was well, and thus mistook his floppiness when ill with a temperature for meningitis???

No problem with asking at all, sometimes it's the only way to find out if anything can be related back to the condition!
My son has a very fast bowel transit - eating high fibre 'healthy' food is a no no with him. Shreddies at 09:00 are back on the scene again at 11:00. We have to give Imodium daily if we are going anywhere, and he can't 'hold on' either, when he has to go, he has to go NOW!! This seems to also affect his retention of nutrients/calories, he is typicaly thin [you can see his ribs, and viens - although that is one of the signs of vascular EDS],we have to give extra vits/mins and all his food has to be high calorie/energy. The looks we get when we give him chocolate and cola! The Dietician suggested adding double cream to milkshake, but he refuses this as 'horrible'!
His bladder suffers from lack of sensation. He has little urgency to go for a wee, although when younger his bladder was 'irritable' and he couldn't stop! Now he has to be reminded to go for a wee, as the bladder is retaining and stretching too far. Due to the EDS if this happens for too long and too frequently the bladder will behave like a balloon that has been repeatedly blown up and let down. It will permenently become too large, holding up to 400ml resulting in it being unable to void completely. He retains some urine now, and this is of concern. We have to void by the clock, using runnung taps, and pushing gently onto his bladder, anything to help. He has to void at least 5 times a day. If we don't take these steps now he could be looking at having a permenant catheter by the age of 10. We see Dr Anne Wright at the Evelina St Thomas', an extreamly good neuropathic bowel and bladder consultant.

Wow, didn't realise he had the vascular type of EDS. This damn connective tissue just gets every where doesn't it! That sounds like a huge management task to keep his bladder and bowel difficulties under control I am so glad to hear that you have a good consultant, that can make all the difference. My ds's problems are more like rabbitstew's ds, on top of this he had a period in the summer when he just lost bladder control, sometimes just a little, sometimes voiding the whole bladder, and he wouldn't know until he felt it on his legs. They think that the dislocation in his spine, and subsequent subluxations may have caused nerve damage and stopped the right messages from geting through, Consultants still clutching at straws though, don't really know what they are doing.

Mycars

intresting as expecting ds2 to get dx of eds though not affected luke ds3 but he has major bowel issues has dx of chrons and we do the high fat diet but lol at all my dc he's the one that really loves salard and vedge si ironic

ds3 has bowel issues sometimes soiling other times constipated and still has accidents and is nowhere neat ready at night as his nappy hangs of in morning as so wet

I have just used the thread to plot our dc and their dx, it was a quiet moment and I was interested

Tell me if I have got it wrong, or missed anyone, I didn't included details of "extras"`our kids have just joint hypermobility

Sparkle dx EDS, DS dx ESD Dd1 no, Dd2 no at moment

Roundthebend4 dx EDS, Ds1 dx EDS, Ds2 dx EDS, ds3 dx EDS dd none

MrsVictor dd1 dx BJHS and Marfonoid features, dd2 BJHS, ds waiting diagnosis of BJHS

Ariane5 dx EDS, exdp dx EDS, dd1 dx EDS, ds dx EDS, dd2 probable EDS

Deepbreath Dd Marfans

Rabbitstew ? dx EDS dh ?dx EDS, ds1 dx EDS

Lou33 Dd1 dx EDS, Dd2 dx EDS, ds1 ds EDS, ds2 cerebal palsy no EDS

Mycarscallednev ds dx EDS

Fractionally more boys than girls, and except for possibly my family seems way more likely for children to have EDS than not once the gene is present, Autosomal dominant should be 50/50 chance, surely even if both parents have it? Don't think there is really anything to learn from this, but it puts it in perspective for me anyway, that we need support to deal with all of this, thank you for being here. Spoddy statistics moment over now

Hmm we don't have confirmed dx yet but even dd scored 8 out of 9 and has some other indications I also scored 8 inhertied defintley me thinks

Fair enough probable mumsnet diagnosis, but I can't help but think you will get the diagnosis as my ds did wth a lower overall score than you and dfamily (he scored 7) and that was before he started dislocating and subluxating everything, and before he was old enough to tell us he had pain.

So for you it is all of you with a probable EDS diagnosis bazsed on the scoring systems.... this gene seems so strong when it is present in the family doesn't it.

Yeah to have 4 out of 4 to me yells genetic that includes ds1 ,ds3 and me that dislocate and sublaxed regulary with in my family it's ds3 that suffers more says she who has had really sore knees and bad back that is lol antheatised tonight thanks to wine

Friend has popped out to get some more,me thinks this could be a long night lol but been so long since had some fun,local pub/resturant has band on tonight and it's handily across the road so ds1 going to babysit while we pop over and put world to rights and any problems I can ve home in 3o seconds ,10 if I hurdle the fence and fall into the stream
and he cooked and cleaned up to but please gave the paracetmol ready for in the morning could be a tad fragile

Hi mycars, my dd also has spina bifida occulta - think they missed it with everything else that was going on. She has a tattoo-like birthmark over the gap in her spine. It only became a problem for her when she had a series of bad falls and she fell on that part of her back. We were told that most people can have this and go through life not knowing that there is anything wrong, but that dd should try to be careful not to injure that area of her spine.

I have heard that bladder and bowel problems are quite common in people with connective tissue disorders. Dd is constantly on Lactulose to make her bowel work better, and is prone to water infections. We think the latter is because she can hold her wee for so long without realising that she has to go.

I had a useful tip from another MFS Mum - if you haven't already, get prescribed pain relief for your dc for them to keep at school, with instructions for the dc to be allowed to have it as and when they need it. In the colder, wetter weather it really helped my dd stay in school.

Hmm don't think they will prescribe fit ds as all they say is give him paracetmol and ibprufoen as he can't say what hurts

Mind was also told by someone that ds has probably known the pain from day 1 so to him it's normal way if feeling :( which made me cry I know how much hurts me so thought of him in pain

Out of intrest ds cane home with a note yesterday saying bumped his chin but only mildly well today he has a beautiful bruise forming

Ds was in school 1 hour 45 mibs before I had my first phone call as he was in pain. Think this might actually be a record! Went to see him, he has almost no neck movement, think he has got himself so tense and worked up about starting back that his neck muscles have gone into spasm. Met new headteacher, actually new headteacher`came to the door to let me in, which was novel and rather nice. Unfortunately I think the nice bubble has been burst already as he has asked to see me straight after school to discuss ds going swimming with class. Think he is going to try to stop ds from going due to risks of spinal dislocation.There is a risk of course, but Ortho surgeons think he should go, physio thinks he should go, dh and I think he should too, SENCO has written appropriate risk assessment, we have swimming shoes to decrease risk of slipping on side, ds to swim closest to side of pool, towel and collar to be at pool side, and adult in the water with him to ensure he does not hyperextend his neck, all the bases are covered, I feel very strongly that he should be enabled to access all areas o the curriculum, Every child matters, Disability Discrimination Act etc..... what do others think?

Gosh I am so down, I just want to curl up and cry, I have so much to do but i can not motivate myself, just dreading battles with school as well as battles with doctor, dh is having a hard time at work, and needing to lean on me quite heavily for support, and I am just not sure there is that much left of me. I know I am probably worrying about nothing with the Headteacher meeting today, but I feel so desperate that everything feels too big today, even silly swimming, and can't help feeling that if it is not a battle over this is will be something else. Psychologically it is so important for ds to feel "normal" right now, he had nightmares about going back to school last night. Somebody snap me out of my depression please, I know I just have to deal with it. God what a self-indulgent pathetic...
Sorry, shouldn't actually post this, but I need someone to kick me up the backside before I go to this meeting.

Ok won't kick you but you can do this ,yes can understand their worry but if the physio paed all agree that is ok and risk assement been carried out and shows it is feasonable then he us going to have to fold though I'm sure will try our insurance won't cover us

remind him many other dc with problems go swimming think hydro etc

Have you ever considered getting a statement also not sure if you have pin team involved physical and neurological team they may help you get point across

There going to go into ds school to help his teacher cone up with ways to make sure ds is included ,ok easier as less dc in his speech base but also know they do lot of work in ms school

shame don't think were near enough to meet up

but if ever want need to talk my email is [email protected] and also on yahoo messenger on that to

Let's us know how it goes
sparkle how old is ds?

As for feeling down sadly as mums we do have to carry it all and sometimes we need to curl up and have a bloody good cry

Sparkle, you sound exhausted.
When so much is happening and you are having to fight for things for your child that most people don't even have to think about it is really hard going, especially if you aren't feeling 100% yourself.

I think that your ds should be able to at least try the swimming. If all our dc's stopped doing things "in case" they dislocated something, they would never get to do anything. Would the school act in the same way to a child that was asthmatic or epileptic?

sparkle hope you are ok today, i know how you feel i have had really awful week too, ds having a lot of pain and we are struggling he is waking up in agony and is exhausted its so difficult i wish there was something i could do.