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.

I cant believe you are going through all this it is so unfair, as you may have read from my post yest iam having really bad probs with ds spine , etc but he gets seen at gosh and they are brilliant. fight as hard as you can and get a referral to gosh, dr pilkingtons rheum clinic and ms maillards physio clinic they are wonderful, would prof grahame refer you there as he sometimes attends clinics at gosh, he has seen both dd and ds so maybe you should ask. i feel so frustrated on your behalf i know how heartbreaking it is to see dc in pain and not get the help you so desperately need.my ds has got mri and x ray appts all sorted they are brilliant at gosh i really wish i could help you more i cannot believe how you have been messed about by various doctors etc.all the best iam thinking of you

Glad gp proactive mind just looks blank if take ds or dd in and gets on phone to paed lol

I would go with the referal to Gosh I'm another that's fed up of teams nit talking to each other ds is seen 5 hospitals and now Gosh genetics on board that be 6 and they never do talk honestly carry copys if letters reports to each yourself

Were seeing genectics on 13 th so will report back what they look at don't do what I did and google ds symtopns as one thing scared myself silly now

And arghh on the MRI ds had one but they just did head lol make more sense to do whole lot on the dc

Me thinks we could end up doing. Gosh meet up

H and repeat it's just their proffesional opions differnt drs differnt opions

Just a random butt in, here, to say that our ds1's diagnosis of Ehlers-Danlos syndrome, hypermobility type was made by a geneticist (following several other assessments by various people and finally opinion from a neuromuscular specialist that his areas of muscle weakness were a result of a connective tissue problem, not a muscle disorder - ie his joints were too unstable to build up the muscle in certain parts of his body, rather than his muscles not being capable of building up to normal strength). I hope, therefore, that you also, finally, get some helpful opinions and answers from the geneticists, roundthebend4! I'm a bit surprised it's taken them quite so long to refer you to genetics, tbh, given your family history. My ds1 also has extremely pale, soft skin, but it is not unusually stretchy.

I'm very hypermobile, as is my dh, but generally it hasn't caused huge problems in either family in the past - just a tendency to early-ish osteoarthritis. Certainly not the doughy-feeling looseness of my ds1 and significantly delayed motor milestones.

Oh, and osteoporosis runs in both families. Plenty of other familial tendencies that could be lumped under the hypermobility banner, but it's so hard to know how much is coincidence when ds1 is the first child to have considerable problems as a result.

Hi rabbit butt away

To be honest we just been lumber4ed with the hypermobility label and for the other dc never been over issues as such and me guess i just accepted that it was par for the course till ds3 .He wa slumbered with the GDD tag and ther ewell he might catch up but as time gone on its obvious he is not and that theres way way more going on but none sits down to draw the dots they all look after their little bits

Though dd has some odd mix of genetic stuff and they never refered her

She has Alpha one antritrypsum also problems with he rimmune sysytem that means her IGa and Igg levels are affected

I am shocked at how difficult it can be to get accurate diagnosis and the right treatment i didnt realise how fortunate my dd and ds have been with treatment, after initial family diagnosis they were seen at gosh, rheum and physio dept, dd also sees cardiologist there and local hosp for physio/hydro and gp and they all seem to have reasonable knowledge of eds.ds also has to see a neurologist an d consultant and dietician re allergies and all treatment seems to be discussed and the different departments seem to know what the other is doing, that said i do still have to copy all letters and take them to gp as hosp seem to always send me a copy and forget gp! i think if i didnt do that gp wouldnt be up to date with any of it.
it is hard enough to deal with all this i cant imagine how hard it must be when you cant get the initial/correct diagnosis and then the right help and treatment.

thats my biggest issues I mentioednEds to physio other week and she was like no there needs be this a sin skin damage she did not even know about differnt classfications and that told her about hypermoblity type so took some stuff in yesterday

And showed her how he met the major and the minor stuff , as in 9 out 9 on scale regular sublaxes which he does just whenh lying on his abck for his hips and has dislocated joints then we moved on to high narrow palate check soft doughy skin etc and that family history she was like hmm well we can t dx this stuff has be rheumotologist but she cant refer him and wont commit But i know some of the stuff shes asking me to do with him is so plainly wrong

But no sessions now as we finshed block of 4 so shall leave things to the genetics and hope ther emor eon the ball

we were seen by consultant geneticist in the connective tissue clinic at thames nw regional genetic centre in harrow they were really really good i think its just the initial diagnosis you need so desperately i dont understand why they havnt done every investigation they could i dont get it, if i was a doctor or physio and i had a child come in with all these problems id do everything to get to bottom of it.they seem to just be plodding along, fobbing people off rather than get to the root of the problem and treat it, as doing a block of physio then just leaving you is just masking the problem not diagnosing it and treating it. its just passing you from pillar to post and leaving you day to day to do your own research and deal with all the problems yourself and that isnt right.i think the genetics appt will help you a lot and hopefully give you the answers you need and the help you deserve

yeah my biggest problem is they get arsey about me wanting referals using up resources this was a scare ss tatics they used say should just accept ds as ds I do but does not stop me wanting to know if there is something behind it

Mind think best yet is you need to stop seeing ds as disabled or he will think he is

lol ds struggles with walking cant talk cant write is delayed has problems chewing erm rather he saw himselves as disabled and had a so what attitude becuase if not one day he is going to get a shock and realise he is not like other nt dc .
And is very obvious when you see him next to my friends nt ds who is same age

Yes, i understand, i had a physio tell me the other week that my children 'look fine' and that i should get rid of ds buggy and make him walk everywhere! he is 3 and in severe pain with his back most days and gets really tired, even when i said to her i dont drive and what am i meant to do if hes in pain or asleep or its raining and i have to get to school and he cant walk and she just looked at me like i was an idiot! never mind the fact i have dd1 in pain and has to use w chair sometimes and dd2 only 9 mnths old so i have the double buggy as im not making ds walk as couple of times i let him he fell and dislocated his thumb.usual physio is back wk after nxt though so at least i wont have to see that one again.i do wish sometimes people who dont know my kids wouldnt take one look and say they 'look fine' they dont live with them day to day and deal with the pain, sleepless nights, dislocations etc etc.the docs are ok it just seems to be the odd physio or if we see a diff gp.

I got told that to make him walk more and yes who has to deal with the sleepless nights

Ds has a powerchair and for him it has opened up a whole new world we can go for ling walks as a family now days out at the zoo and ds is more independant not less before hand has to choose 10 mins walking or 5 mins on the park then had to be pushed everywhere now he does both

This is the problem i have as i do not drive and have to push ds and dd2 in double buggy if dd1 is having a bad day and cant walk (even on a good day after few mins her legs get painful) then im stuck in most of the time,or i end up having to get taxis which are expensive. sometimes my ex does help out but he works long hours and hasnt been able to drive recently due to dislocated knees but if he can help by giving us a lift he does. they just dont seem to realise that if a child is in pain and cant walk and you are out how are you meant to get them around you cant carry them if you have other unwell children, so how do you get them home? it really is a struggle to get people to realise how bad things can be even if dd1 has had a good day and played a bit or walked a bit she then ends up in pain that night or sore and achy next day so although it was a 'good day' she pays for it the following day .

i have it, 3 of my 4 kids have it too, my youngest doesnt but he has cerebral palsy (not connected)

i think i have it the worst though

i bruise easily, have keloid scarring, am hypermobile, had precipitous labours, i have trouble with my knees (big op on one of them in 95) wrists and back, which is exacerbated by having to lift and transfer ds2 from wheelchair to car etc

we are all pale skinned as well

hi lou33 sounds like you are not having a good time either- my wrists were hurt lifting buggy with ds in so can sympathise with that and we just have to keep going dont we! no resting like the doctor reccommends as have to look after everybody else but they dont seem to realise that!

I had awful trouble with all 3 labours/births and had 3 c sect in the end i did not realise it could affect labour, i had no idea i thought i was just unlucky. i had pain and ended up with crutches/w chair whilst pregnant but did not realise it could affect labour.with dd2 my waters broke early.

What knee op did you have? my ex has got eds had surgery prev to tighten tendons/ligaments i think but didnt work and they now dislocate daily but nobody seems to be able to help?

Ariane ,lou

I had knee op back around 92 whichbinvled tighting ligaments and tendons it failed within 3 months and was only recently I found out surgery often fails if hypermobile

I would consider as very last resort and certainly. Not as a solution as over time the tensions and ligaments just restrech themselves

What about a hinged cricket splint might least staberlise the knee some

it was patella realignment, medial reefing and something else ( i forget now), which yes is basically having my kneecap removed and all the tendons etc adjusted then replacing the kneecap

what it did was leave me with limited movement, so i cant bend it fully or kneel on it, and it v often just hurts for no real reason, but it does not dislocate anymore (it used to slip right round the back so on xray it would look normal, but it clearly wasnt lol)

i spent 6m in a wrist brace once just from opening a plastic tub of pasta sauce

i get trapped nerves every few weeks too

I had to use one of the cricket splints when I was pregnant with ds, as I kept dislocating the knee cap, it did work quite well, and I was still able to get around even though I was heaving an enormous bump. I had no real problems with pregnancy or labour really, I had increased pain in pregnancy, I dilated very quickly and my dh says watching the dc be born was like watching lambing on All Creatures Great and Small, he said for both dds the midwife needed a catchers mitt! But I feel very lucky, no ruptured membranes, two dc were early but not dangerously so, and all were big babies. Last dd was born at home.

I have refused knee surgery as all the evidence is the problem will just come back when the ligaments and tendons are healed so it seemed pointless to me. I will eventually go for my carpel tunnel surgery because that it slightly different though.
Isn't it interesting to hear the same issues over and over again, just a shame the doctors etc are so poor at recognising the common threads.

my longest labour was 2hrs 20 mins and my quickest was 22 minutes

for that one the midwife didnt even have her gloves on ready lol

mine wernt quick! induced with dd1 at 42wks, had cont every 2 mins but 3 days later still just 2cm dil, she got foetal distress so had emergency section, she was big 9lb 10 oz.ds was planned section as i had placenta accreta, bled a lot was really ill after and when they took clips out the scar opened up it was awful.dd2 waters were leaking at 28wks, in and out of hosp till 38 wks and had section again then she had strep b and had to be taken off to neonatal unit given a drip and antibiotics. wasnt much fun i dont think pregnancy was my best time!

iam going to suggest cricket splint to ex as his knees are dislocating numerous times every day and he said he is in a lot of pain so mite ring him and suggest it hopefully itll help, might even make him realise i still care but thats a whole diff story!

lou that was same surgery a si had on my right knee refused on my left after it failed

you can get hinged ones to .

Hmm ds1 induced and was about 6hrs 8,3
ds2 45 minutes and 9,11
dd sick ofr 8 months and emergency section at 35 weeks and 6 weeks in scubu 5lb

Ds3 section 6,3

i will never ever forget the pain i was in after having my knee op, it was truly the worst i have ever experienced, and i have had 4 kids with no pain relief (except for gas and air for 2 mins with one of them)

even morphined up to my eyeballs i was still screaming with the agony

my kids were all early

dd1 only a week though and was 6lb 6 oz, 2 hrs 20 mins, dd2 was 37 weeks, 1hr 40 and 6lb 10, ds1 was 38 weeks and 8lb, and ds2 was 36 weeks, 22 mins and 6lb 4

they br0ke my water at 36 weeks for ds2 as they were worried i would have an unattended delivery given the fact i had 2 at home with the midwife and ambulance arriving just in time, and one of them was born 3 mins after getting to hospital when i was on holiday, and i was pushing her out in my tights

and also because with the last three i had threatened early labours at 30, 34 and 30 weeks too, and with ds2 i was in a lot of pain from then on

interestingly they think his cerebral palsy was because of a lack of oxygen at one or more times around 30 weeks pg too (they call it an insult to the brain)

it seems like i was lucky wrt my knee op has held up so long despite having restricted movement now

tho they do expect my other knee to go eventually

It is so interesting reading your dc birth stories. My ds was born 2 weeks early at 7lbs 14oz, did actually niggle for a long time with him, but went from 3 cms to 10 cm dilation in about an hour. He then got stuck in the birth canal so it was ages before I got him out - couple hours. Dd1 was 1 week early at 7lbs 14oz, she was born with three contractions, one for head, one on which I was not allowed to push as the cord was tight around her neck and they had to cut it in situ, and eith the last contraction I delivered the rest of her. Dd2 was born at home as planned, on time, at 9lbs, 8oz, again two contractions, but we took a couple of hours to get to that point.

Hello, how are you all today? Are all your dc's back at school yet?

Dd started back at school on Thurs, and is very tired already. She didn't want to go into school in her wheelchair, but the short walk from the car left her breathless and sore. I took her wheelchair at hometime.

As for dd's labour story, she arrived on her due date, just before midnight. She was 7lb 10oz, and the midwife's first comment was "hasn't she got long fingers and toes!" so we knew that Marfans was a possibility even that early on. They also found that she had clicky hips, and she had to wear a Pavlik harness for several months.

I had a side room to myself after I had dd, and just as the baby blues were kicking in for me my room was suddenly full of doctors, medical students, student midwives... all because they knew that dd probably had Marfan Syndrome, and as they said "it's really rare to see a baby this young with probable Marfans". After several of them had pulled dd around enough to make her scream, I screamed at them to get out and leave dd alone. They scarpered!

ds started at school today in speech unit he cried when got in the taxi but school phoned to say he is ok now

Though he vomited over the escort

ds had to travel in his wheelchair as he cnat mange climb onto bus and into carseat on his own so as escorts cant help was best way

Not sre how he will be later , ds cant regulate himself so he will probably walk round class but be beat by time home and will have me up with crying and pain in the night

He cnat say im tired hurt etc and if you dont know him wont recognise the signs of it