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.

hi deepbreath

Please jump in and hello .and yes can only imagine the extra worry marfan syndrome brings to you

Yes we get the why does ds have a wheelchair erm becuas ehe tires easily also have the latest physio telling us you need to make him walk more im like he gets tired he hurts he cant keep up with anyone then falls over

Were fortunate and ds now has a powerchair we was given by another parent on a forum and it is fantsic has opened up the world to him we went out and the first time ever he could keep up with everyone .Though he did end up with tired fingers from steering

sparklerainbow- sorry you had a bad day yest i know how horrible it is when you have a bad day and your child is hurting i really hope today is one of the better days for you.GOSH really are brilliant if you can get the referral, my daughter had a 2 week stay there when she was 3 and did about 4 hours of physio and hydro a day and although it exhausted her it did slighty improve her as up untill then she had constantly been in a buggy and wouldnt walk at all.ds will prob have to do the same as he gets terrible pain in his lower back and hardly walks but if you can get the referral it really is brilliant they help them so much.

dam iof can get referal to hoping genetics give the dx of it afterlooking ds meets dam critera infact we all meet at least tyoe 3 we need to meet up and have a coffee there sadly not wine

ariane

How are your writs did you get the splints

yes and they are so much better i can push the buggy so much easier! still hurts getting on/off buses up steps etc but at least iam not afraid of going out now i had got to the point where it hurt so much i couldnt manage going anywhere as couldnt 100% concentrate on kids as i felt so rough.

hope you do get a referral its a shame its always such a struggle to get diagnosis/help etc, i spent nearly 3 years taking dd to gp with pain, difficulty walking etc and they kept telling me she had a virus! i was at my wits end had to insist on seeing paediatrician to find out what was wrong it was awful and it was only when dd was diagnosed that they looked at family history and both me and ex were found to have eds too (i had been told as a child i had 'growing pains',was 'double jointed'and my jaw would always dislocate but i was never investigated for cause of it. my ex had hypermobile joints, knee dislocations and pectus excavatum, they tested him for marfans came back negative so they said nothing was wrong with him and it wasnt genetic prob-so we were surprised when dd was born with very obvious pectus excavatum.

Hi Deepbreath, nice to have you with us . Marfan's is such a hard dx, how are you managing? Did your new physio accept the reason for wheelchair, or is it going to be a battle you have to fight again. [frustration emoticon] - definitely needed mnhq!

Just got an appointment for next week for ds to see the senior Consultant Orthopaedic Surgeon who ordered then cancelled the MRI...willneed to get my head round what we need to discuss with him, apart from give the child and MRI and don't go anywhere near him with a ctscan!!!!!

Hi again, thanks for the warm welcome

Hope all of you and your dc's are OK? The weather isn't the best here, dd is always more achey when it's raining.

Dd usually copes really well, most people that meet her don't realise that anything is wrong straight away. She doesn't always have to use her wheelchair - I think the physio was worried that I strapped dd into it just to make things easier for me, it does in a way. It saves me having to carry dd (who is the height of an 11 year old) when she gets tired and sore! After a chat, the physio did accept that I'm not out to somehow disable dd, if that makes sense?

I think having Marfans isn't any worse than having HMS or EDS, dd's joints have always caused her much more hassle than her heart or eyes. Her class had the same teaching assistant for the first 2 years at school, and it turned out that she had HMS. She always knew how dd was just by looking at her, and we still miss her now.

For those of you that have appointments soon, good luck with them.

Was rainy here yest too and the damp really does seem to affect all of our joints too. My dd also has wheelchair for bad days and i understand what you mean, i dont drive so to get out and about we sometimes have to use it because she wont walk far and is a tall 8 year old so like you said carrying is impossible.dd also has probs due to pectus chest and intermittent tachycardia so sometimes faints if she over exerts herself.her physio was quite understanding about why she needed the wheelchair which was good.ds has appt at GOSH on wed so thanks for the good luck.

deepbreath i understand that think physio wa sbit shocked at first when realised we have wheelchair for ds3 but after while and the carried out assments she wa slike i can understand why now

yes its wet and damp here today and ds has been crabby but then we was out yesterday and he *played on park so always a pay of

Changes in weather dry to wet, hot to cold, or visa versa seem to make the biggest difference to both me and ds. May be that it why he had the flair up this week, I also subluxated a shoulder and have started with my chest pericardic problems today too. I wish they "experts" knew more!

hi all, was just wondering if any of you could recommend a decent bed type as ds gets severe back pain and wakes 2-3 times a night, his bed is not v comfy. i need to get a new one but its going to take a lot of time and effort trailing round trying them out etc,etc so was hoping somebody could tell me if they know what sort would be comfy yet still supportive if any of you or dc's have ever had a similar prob? thanks x

Roundthebend, yes it's hard to get a bit of balance so that they aren't bored or overdoing things so they end up in pain.

Sparkle, dh subluxed his shoulder too (he also has Marfans). Hope you feel better soon.

Ariane, my dd gets tachycardia too and goes blue round her mouth. Most episodes are only a few minutes long, but can come on even when she is sitting quietly.

Would it be worth trying a mattress topper on your ds's bed? Some people that I know swear by memory foam but others find they get too hot.

ariane ds has standard bed but disturbs a lot at night espcially if has been mobile in the day

dont i have only just got over shoulder injury tahts almost 2 years old just by swinging dd up in my amrs and from then on was painfull to wash floors and lift thinsg even now still twinges

Why i think ds needs proper dx dont want happening to him

thanks, i might try the mattress topper as will be cheaper than a whole new bed! he sleeps so badly tosses and turns, throws himself around in his sleep and wakes up lots with pains in back or numb tingly arms where he has got into awkward pos and laid on them, he has a bed guard and 2 beanbags by side and bottom of bed but still manages to fall out sometimes, i havnt had a full nights sleep in years, he has lot of stomach and bowel trouble too but due to severe allergies (milk, egg, nuts, fish and shellfish) and he is on medication for migraines so things are really difficult.

Hope you are all ok today and that its a good day for you all and your dc's (smile)

(smile) was meant to be

Were on quiet day here thinks ds3 wore himself out so much on Saturday ge does not want to do anything plus hospital for the cleft lip palate team tomorrow so all go there looking to see if problems with palate affecting his speech

Yes I often wondered about mattress topper if you get one please let me know how it goes

ds is another wriggly butt at night mind sleeps odd postions will put one on later how I found him one night twister champion in his sleep lol

I have heard that memory foam can make you very hot too, and my ds sweats profusely at the best of times. We have an expensive medium firmness pocket sprung mattress for ds. For him and me the secret is for the mattress not to be too firm, but allow the mattress to slightly support as it gives around him/me. I have to sleep with a pillow to support one leg, and can't sleep on back at all as it causes my vertebrae to seperate... (gross emoticon needed?) Ds usually sleeps on side, so wonder if it is the same for him too.

We had a lovely long weekend away, went to the beach stayed with friends, back to the grinsd now, seeing gp tonight to fill him in on last week's confusions and come up with a strategy for ortho appointment tomorrow. No rest for the wicked, but on the plus side the sun is back!

"grind" as in grind stone....not "grinsd" as in....I can't type properly.

Glad you had nice weekend away makes all the differance

well been doing some chasing today and was not paed who refered ds to gosh genetics it was orthpeadics now I not seen who wrote the letter or what says so makes me wonder if EDS has been mentioned in it

I bet it was, can you get a copy of the referral letter so you know what information has been shared?

I am off see gp in about 15 mins, having to gear myself up, and gp is wonderful. Am dreading ortho appointment tomorrow. I don't do confrontation out of choice, have to keep saying to myself " I will not be bullied into course of action I know to be wrong!" not the catchiest mantra.

An going to try and see will call tomorrow trouble is not even sure which orthpeadic surgeon wrote

Good luck at the gps and yep keep saying to self that's only their opion if they make you feel unconfirablr for pushing and we live with it so we know how it affects us and our dc better than anyone

Dd paed acknowledges I know far more about her condtion than he does and we trade info lol she has combination of sone nasty genetic stuff

had gosh appt for ds today, didnt go well his back pain is because it is so hypermobile 120 degrees they said not sure exactly what that means, they said he has virtually no muscle on his back and the vertebrae are slipping around causing the pain, he has to have x ray and mri and stop all other physio except one exercise to try and help his back, his core muscles are so weak he is virtually at the point where he will not be able to support his ownbody.i knew he was always knackered and had back pain but didnt realise how bad it was.i just feel really really low and am so worried.

oh ariane im so sorry to here that ;(.

Can i ask how they measured his hypermoblity in his back?

can iask how you all got the dx of Eds was it genetics or someone else am curious as ds been refered bu orthopeadics to gosh genetics but dont yet know whats in the referal

They laid ds on bed on his front and the physio and doctor kind of just bent him back as far as would go which was quite far it didnt look particularly nice, she said a lot of hypermobile people can go to 90 degrees but that his was terribly bendy as was going to 120 which would explain problems he has been getting.

diagnosis is long story, when i met my ex he had bad joints, knees that dislocated all the time and pectus excavatum (a misshapen sunken chest that can reduce lung function and is caused by faulty connective tissue between ribs, can sometimes be feature of eds or marfans)he assured me it had all been checked and he had been investigated for marfans and all came back negative, he was told it was just a collection of symptoms not an illness and was def not genetic.

I had always suffered joint pain as a child, am very very hypermobile and from the ages of 11-15 my jaw would dislocate a lot and i would wake every morning and have to try and push it back, ended up in hosp twice with it but nothing was done.during my preg with dd1 i ended up unable to walk had to use crutches and w chair in end they thought it was spd but it was in fact my back and legs as well they just sort of gave up and it was agony.

When i had dd she was born with quite bad pectus chest so immediately we knew it was genetic, she walked at 11mths but was always in pain and was very bendy, she was seen at gosh when she was 3 and they said it was eds,they lookd at fam hist and genetics dx all of us with hyp eds.

Ty

Ok so I would not be suprised if we all get dx eventually here

just was curious as if you did that with ds he would go well past the 90 degrees have just tried it gently but did not want to overpush it even I can still Reach 90 at my old age of 36

all the dc could be contornists I swear though ds3 is one that really suffers he did not walk till almost 3 and though he can't say where hurts I know he gets pain :(

lot of people say hypermoblity can't cause that more I read more I'm convinced that ds has eds ok know he has other issues but swear this is adding to it

I suspect after googling that ds probably has a gene deletion going on to but will see what happens on the 13 th

ds3 is very hypermobile ,low tone ,verbal oral dyspraxia ,very small and his legs seem out if proportion as in smaller than body .large forhead ,Gdd ,small penis testicales that don't seem to descend ,Very high and narrow palate that means when older going need sone major dental work , hearing problem,continace issues so lots going on

Know they said Cp but I'm thinking Eds defintley plus well....

Know has cp

Yep for me it was my knee caps that kept going I still hyper extend now when walking or they snap back when I forget

Sparkle good luck today let us know how it goes

Hi Guys

Well I am not really sure whether today was sucessful or not. Yesterday went to see gp, he was furious with orthopaedic surgeons for mri fiasco. We decided that I would go with ds today to see ortho surg and fight the incorrect diagnosis of nonstructural scoliosis, if the results of the consultation felt unsatisfactory then we would proceed with the gosh referral to the hypermobiity clinic and access rheumatology, physio, OT, Ortho and psychology through gosh. Felt a reasonably positive meeting, gp is definitely onside and proactive. Incidentally he going to examine all ds xrays himself, when he goes up to the hospitakl next week, he said not expert obviously but he can tell when a spine is dislocated or not!

Sorry long post

Went to see Ortho Surgeon today, was running two hours late. joy! When we got in ds burst into tears in frustration. Dr pulled up xray taken last time and started discussing scoliosis, I pointed out why it was bent, and reminded him that gp had ordered a lumber xray when ds was having incontinnce problems in June. Her pulled this up and it was clear there was no scoliosis at all!!!!! He acknowledge this. Then said he was not going to reinstate MRI as ds did not have incontinence at moment. I pointed out lack of cohesion btw teams, school time lost, a&e admissions, pain suffered, repeated dislocations and subluxations etc etc, he acknowledged he did not know enough and thought that Rheumatologist doesn't either. I asked if he would support referral to GOSH and he was very supportive of this, said he thought it was for the best and will write to confirm this. (Cynic may think, hmm off his desk!)

So there we are, what are your thoughts?

Ds diagnosis came after referral to Prof Grahame at UCHL on clinical dx, and based on family history of his dx of me about 20 years ago. Apart from to discuss having dc we have never seen a genetists