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 am glad to help or at least give some ideas as to what might be happening.

I have just come back from my ds's first swimming session with school. SENCO had the risk assessment in place, a teacher has volunteered to come on her day off and get in the pool with him, and she was lovely with him, basically gave him 1 to 1 tuition under the support of swimming teachers, that was all lovely. But....why is there always a but , despite having asked for and having been sent all the info they needed before summer hols, despite a meeting being booked btw me and swimming service manager at the pool today, she had not even bothered to read a thing, and it was all disorgansied on their part. He did get in the water for a short time though, which was lovely, but I am really distressed to see how skinny he looked, his chest is virtually concave, his flesh sucks in around his ribs so much, his arms and legs looked like long sticks...and he was exhausted after about 15 mins in the water, the teacher had to lift him out, and he was too exhausted to even dry himself properly, I had to really push him to do it..but I can't go every week. This is a shitty condition (please excuse bad language)

Hi just catching up pm everyone

nit been around much as can't sit down still though today cheated laid on floor with laptop :)

ariane

See. If dr can write you up difenic? Spelling it's anti inflamntry and painkiller one stage up from ibprufoen have just started taking it myself and will probably need take longterm

sparkle glad ds had his swimming lesson but argh for thrmem nit even bothering to read up any luck be better next lesson .Funny enough swimming is the one thong ds3 enjoys

the Vascular type reason there looking at is I had a spontaneaus aorta rupture but only since seen genetics did it get put together with ds3 and dd but

have had letter confirming that genetics refering us to
Gosh regarding it and bloods now took for chromosome testing

The Mri ds3 had one while back to look inside his head kinda wish they did whole lot in one .da

Tomorrow were of to addenbrooks to see orthopeafics as local team did not like ds sublaxed hips want second opions

Can I ask how do. Your schools deal with tine of for appoinents ds has been of at least one day a week since September sometimes 2 and there still coming thick and fast and means whole day of as ge gies by transport as don't drive and it's to far

rtb4 - Hi, how are you doing? Not so well I suspect. Is it Diclofenac Acid, a NSAIDs if so watch out for the side effects, and always take on a full stomach. It is very strong....works though....but you don't want to end up like me allergic to all of them, not fun
Any idea how long the genetic testing will take?

Let me know how it goes with the Ortho's tomorrow and how competent you think they are...may be Addenbrookes is possible for my ds, in terms of referral.

Ds's school s keeping a very low profile, and therefore positive support re number of absences and drs appointments . It is me who has raised the issue of lost school time, and planted the seed that they may need to think creatively about teaching ds and his full access to the curriculum.

Ariane, is there any way that you could get an O.T. assessment for yourself and your dc's? It sounds as though you could do with a few bits and bobs in the house to help with bathing etc. Dd has a bath board and step on loan from the O.T. here, and they have fitted a handrail next to the bath and it has really helped us. Dd has had some bad falls/subluxes in the bathroom before.

Sparkle, it is a shitty condition. I hope that they get things in place so that ds can join in swimming safely within his own limits.

Rtb4, am glad that you have managed to get the blood tests as I know of so many people that cannot get them for EDS/Marfans etc. because of the cost. Hope tomorrow's appointment goes well.
As for school, they are usually fine here but they do ask for a copy of the appointment letter for their records.

ug will have to supply just been writing in his homeschool book .Though his teacher mentioned that his diary fuller than hers

sparkle will fill in tomorrow when back and as for me no the hip dislocated ripping all the muscles in my thigh to so majot outchy am typing lying down on front room floor

yes thats what im taking as well as dihydrocodeinone any luck another week or two wont need the dihydrocodeinone

and my dc wont learn to many cusswords

deepbreath think as there running other chromosome tests decided go whole hog plus as dd has som e genetic stuff there killing 2 birds one stonec

rtb4 - that has got to hurt! Which Consultant are you seeing at Addenbrookes tomorrow?

ariane - ot gave me a bath board when I was at uni and struggling with getting into the bath, it was really helpful, and would work for probably 3 year old and up.It was fantastic, really helped me.

School has never asked for copies, or sight of appointment letters, I just write a note in advance and give name of the doctor. However dh just pointed out that ds first dislocated his neck on school premises, and since then have sent him to a&e 6 times.....so they are pretty paranoid aware! Are you getting hassled by school rtb4.

A dr reem is orthopeadic dr ,

No not yet but am aware when went to ms before hand they was not happy about his abscencez am just wondering as so know his attendence will be low but then unit is aware that've has lit more than speech going on

dd has a bath board and i have to lift the little ones in and out bath, main prob is though that i have tiniest bathroom imaginable just the bath, a mini size sink and about 40cm to the wall so cant turn around in there and door opens inwards its a nightmare i hav been bathing them at my mums house every day as i can lift them in without banging them on anything and then i can sit down to rest a bit while washing them as even dd at nearly 9 cant be left alone for a minute due to slipping or fainting. ive asked o t to come and assess if they could somehow get council to knock through toilet and bathroom so that i have the room as at the moment my bathroom pretty much useless to me and kids.i had to put a handrail in myself as they couldnt do it straight away when i moved in and dd couldnt get up stairs without.ds has to be carried anyway or bumps down the stairs on bum as cant manage them at all. iam just waiting now for them to get in touch but its a long wait for everything like that where i am.

As for time off school dd teachers have been really good i always write in to let them know when she will be off and they seem fine.i used to copy appt letter for them but dont have to now as they are aware of all the issues.last year she was really ill and had to have 2 weeks off then another week of half days, she had been fainting a lot and then couldnt do physio which made her legs get really painful andthen just couldnt walk at all but the school were great sent work home let me take her in bit late if she was tired etc.

sparkle you said your ds chest looks concave does he have pectus excavatum ?my dd has it really severly it is a chest condition associated with eds/marfans causes chest to be concave.dd is seen at cariology clinic at gosh as hers is very concave on left side and they have to keep checking heart and lung function and lung capacity, sometimes it causes her to be short of breath.my ex has it too even worse than dd he got a lot of probs with it.i think it is caused by a problem with connective tissue in between the ribs.

rtb hope you are feeling bit better and have less pain today .

hope you all have a good day today iam off now to get everybody ready and do my usual weekday awful journey to school. i hate it so much getting up early and getting taxi or bus its always a rush and somebody is always feeling unwell.its a nightmare i wish i could drive but never got round to it due to so many appointments and ev body being poorly.im exhausted and really sruggling i look and feel about 90.its like groundhog day every day im starting to despair of it .

Ok sparkle do not accept addenbrooks certainly not orthopeadic wise there crap have
no understanding of Eds all they said was yes he's so loose not fun yes he sublaxes but no nothing we can do just do physio

Though did discover his tiba not connected properly to his knee to much movement

Not worried that knees go going to leave local to deal with it said nothing they can do
he is seeing local team next week I'm going to ask for referal to gosh if they won't will call genetics see if they can our paed is a arse

Think were struggling as ds has so many other issues no one knows what to do :( or what to put down to what no one seems caperable of seeing him as a whole child or talking to each other :( am sick of it really hope genetics come up with something hate our paed she's useless as is our physio who did not even know about Eds said oh think they need stretchy skin for that

But he's had his 6 week block so were not see her for months now if ever which suits me though ds to tired to do any in week anyway

A six week block is ridiculous, my ds has had physio for a year now, and it is to continue ad infinitum, it took months to have any affect at all. I would call the genetics team and ask for a referral now, explain about ortho at Addenbrookes (thanks for that heads up ), and physio's lack of knowledge of EDS! How good is your gp? They can do referral to GOSH directly, not always successful, but your case carefully put to them should have a good chance I would have thought! What do they mean nothing they can do about his tibia/knee how about focussed physio, advice about care, knee splint, info for school...what a cop out!

Ariane
I don't think it is pectus excavatum, he doesn't look as severe as the examples I found on the net. He just looks so thin that he "goes in" inbetween his ribs and under and around his breast bone....what do you think?

I am in so much pain with my chest today, I have to hold it when I walk, and feel anxious anticipating the pain whenever I breathe in...it is surprising how often you have to breathe in! My Rheumatologist said she wanted me to ring her and get myself admitted to hospital when it happened again....dh is abroad with work for the next four days, no family around and a 1, 5 and 7 year old.....how do I do that! Like being told to rest eh girls

Nope I'm ds physio always have been since he was first seen at 3 bearing on mind was only just starting to walk we had 6 monthly reviews no programme I then paid for private physio

Ds won't get regular physio less I do it but he is to tired with long school days ATM even weekends are write if he so tired and whiney

Nope thru have no clue or physio either lol she said ds does not have eds far as she knew did not fit symptoms not that she knew what they were

this was week before genectis even now she's not read up on it ,Ot has no clue either .Were seeing local orthpeadic next week going to see how they are

My gp is crap won't refer for anything so think might call genetics myself infact might even try emailing proffesor Grahams team

All orthopeadics said is some point ds needs physio try stablise his joints as gets older pointed out hello been doing since he was 3

but no one wants to commit try anything as no one sure what's resposiable for what and how it affects him :(

I feel a letter to the pct coming on.... Can you change gp as a first, best thing I did. I would try emailing prof grahame's team, but I would also ring the genetics team again, and write to them too, explain that you have NO-ONE who has any knowledge of EDS and the medics won't ask for the help your family desperately needs, can they refer you to GOSH asap, so you can start helping your children. After that I would seriously consider contacting p.a.l.s at the hospital and enquire making a formal complaint based on negligent care from gp, ortho team if necessary, rheumatlogist, and physio. That will put a firework up their arses and maybe support you request to be referred to a tertiary hospital, namely GOSH. After that pct and mp, threaten them with the whole works, this is ridiculous for you. It was my physio who suggested threatening the ortho surgeons with p.a.l.s, complaint and the pct, it worked for us....kind of, gp did say to me yesterday there maybe no-one in the country who has the experience needed, so I suggested it was time for me to go to "premed" and learn all i could about the spine, so I could at least tell if someone was "bs"ing - he thought this was an excellent idea, but I have a good gp thank god! Ever now and then I contemplate contacting one of the US research projects/ hospitals and asking for advice....they might just ignore us but......

ds had a funny turn at school today, room too hot, went all weak, dizzy and felt sick.....hypotension probably....will we ever reach a plateau where even for a small amount of time the status quo stabilises. Some b*gger keeps shifting the goal posts!

You know a lack of medical professionals taking responsibility for anything is exactly our probelm too rtb4, and I bet we are not alone.

unfortunatley were stuck with one stupid arse surgery , am going to make contact with genetics and proffesor graham tomorrow

Good Luck`with that, let me know

sparkle-it could be pectus excavatum it can range from very mild and hardly noticeable to really severe it doesnt cause any major probs unless it is extremely concave. my dd1 has it very badly like her dad but ds and dd2 have it so mildly it hardly notices.

I cant believe how hard it is to get the right help for eds i have been reading the posts from today in despair, why is it so difficult to get people to understand and help. it is a condition that can cause so much pain, discomfort and disruption to everyday life and yet so little is known about it and worst of all not much effort seems to be being made to find out anything about it and some doctors barely know anything about it. sometimes i think we know more than most of them .

Yep was told that yesterday that I probably knew more about it than most of the so called proffesionals

Today my mission is to get ds to be seen by proffesionals that know something about Eds

well phoned gopsh talked to rheumotology and they confiremd that chances are they should be be able to take direct referal from Genetics and had lovely conversation she aske dhow it affects him and expressed shock that has took this long and we have had no help

So have called genetics and spoke to the dr sectary we saw who was lovely and shes going to talk to him and arrange to call me back either the dr or herself and said that they should be able to do it and has giuven me her direct contact number .What a change from being given the runa round

That is fab news rtb4, I am going to keep my fingers crossed for you

ariane - what causes pectus excavatum? I will google a bit later, and try and read some more details about it, I just focussed on finding images last time.

I went into school today to help out with music in the school, was with the whole school, and watched from the sidelines as they had to deal with my ds in pain, and feeling unwell/dizzy, his eyes were filled with tears, comfort rockng, trying not to make a fuss or even really be noticed. They were lovely with him, but he must feel so isolated, and so different. Every day so many activities at school just remind him of how different he is. This school doesn't celebrate academic achievement at all, and that is the only thing he can succeed at. Maybe the new Head will change this, and get us a balance that values all.....well can hope and dream! Sorry feeling very negative, guilty etc today, we do have so much to grateful for...the fact that he is still here with us being number 1.

Sometimes i think that is the worst part of it, not the pain, the feeling different, not being able to be the same as everybody else or do the same things. my dd1 gets frustrated a lot and is beginning to question a great deal as to why she looks different/has to wear special boots/miss out on certain things, etc etc and it is hard for them to come to terms with it.

I find it hard especially when i see them with kids their own age as for some reason when they are at home i tend to think they dont 'look' that different because i see them everyday but suddenly with kids their own age they look very bad, unsteady on their feet, unsure, nervous and often upset and in pain and its then i realise that it is more than a physical battle.ds is only 3 and half and keeps getting upset asking will he have a wheelchair like dd1 has to use sometimes and are his legs going to not work one day so even at a young age they are having to deal with such a lot and it must be hard for them. i wasnt diagnosed till i was in my twenties so although i had a childhood being told i had growing pains all the time when really it was eds i didnt suffer like my kids do.

at least like you said the school are really good with your ds that will really make a diff as a bit of kindness and understanding really goes a long way, it doesnt ease the pain but can really boost them a bit.my dd sometimes gets herself really worked up and a few kind words and the help and understanding of the teachers makes a huge improvement in her day to day life even little things like she cant do pe so rather than make her sit out bored and unhappy they do something lovely with her.

I do think that the bottom line is sadly though that there just isnt enough help out there for us, we need quick and accurate dx, doctors who know of and understand the condition,physios who can help regularly not just with a few here and there 6 week courses of physio, pain management help, counselling,etc, i could go on and on. you know if i ever win the lottery i will open an eds centre with thousands of pounds of funding behind it and offer all the help and services that all our dcs and countless others so desperately need as i cant see how people can go on like we are having to beg for help.

sorry rant over.i just get frustrated that we are all going through this and it seems unnecessary for our kids (and us) to be unhappy and in pain.i know there are good days and bad days but i seem to have so many bad ones and it gets to me and i feel helpless.

im off to bed now i think i should just shut up! im trying to put the world to rights today and i know full well i cant change anything.

Ariane sometimes we do have to raant

Im finding that very little is known about Eds and the affect on our dc and or ourselves

in some ways it is slightly easier for me as ds is very differnt to his peers, but do get the slap in the face when see best friends son who is 3 weeks older and its even more glaring then and heartbreaking even though friends son is lovely little boy he now has more in common with my 7b year old dd

ds does not really show his pain in the day someone said once thats because he has never known what its like to not be in pain which course made me cry

Mind it comes ourt at night

speaking of night rtb4 - have you had another bad one by any chance - posting at 5 am! Are you ok?

ds dislocated two fingers on way back from beavers tonight...ah well...we were doing so well today.

He got a Headteacher's award today for trying really hard in swimming, and splashing his teacher who was in the water with him (she put him up for it) he is so chuffed, it made me cry. Told him I was so proud for him trying so hard even though it was something he found hard.