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.

How are you feeling today Tranquility?

poor lad, what are you going to do?

I had to call my GP, the receptionist kindly put me through to him, when I explained the circs, he faxed the chemist who dropped me off loads of stronger meds, I took them at 4pm, and the pain is a little better, still there though, and I am not doubled over, I am homoerectus again lol! GP was shocked that the meds I got in a and e yesterday were not giving pain relief! I will see how I go,and see how I am tomorrow!

What happened to get you to a and e, did I miss that... sorry?

I have spoken to the gp about the heart stuff, he told me to get the paed that ds is seeing at the end of sept to investigate it. Of course now we have this episode today....so not sure if I should do something sooner. We are going to the rheumie tomorrow pm for ds, so I will mention it then, but he is as useful as a chocloate teapot, and will just defer it to the paed anyway

No idea, started to get a lot of back pain on Monday afternoon, took two neurofen, and it kept getting worse, went out Tuesday, still on Neurofen, by the time the kids got back from school Tuesday afternoon, despite neurofen I was going white with pain and not able to sit at dinner table, so went off to get more pain relief and to see if they knew what the problem was.

Oh good that this is getting investigated for you, not long now! This is the problem with a little known/understood condition like EDS, not known enough about it and as a result you don't get diagnosed or treated as you should. fingers crossed for you and ds!

I have been suffering from this chest pain since I was 18, and as I am nearly 40, I am just having one last stab at trying to work out what is causing it...not holding my breath though.

You know your back sounds just like mine, when I lost one of my discs. It didn't explode or anything dramatic, it literally disintegrated over the course of a couple of days, and I woke up one morning over an inch shorter....thats EDS for you. Did the hospital xray you, and tell you what was causing the pain, or is it "soft tissue" and therefore not visable on xray?

Hi.
I scored 8 out of 9 on the beighton scale and both my children are hypermobile. My son has leaky gut and multiple allergies. This is why we were examined for it because the doctor said hypermobility was an indicator. i have always known i had very flexible joints and could do that wierd thing with my thumb. But i have been lucky in that at 40 i am only just beginning to get joint pain. I do have very clicky knees, hips, knuckles and jaw though.

It is such a variable condition. Beighton scale is a useful starting point, but in our case and supported by Prf Grahame, it is flawed to use only that. My ds only registers 4/9 at the mo, he doesn't have hypermobile wrists or knees.....jsut everything else. What concerns me about it is when dr get hung up on the scale and look no further...then kids like my ds would be missed.

Sparkle so pleased your ds got he blue badge still waiting on mine ..

hi tranquilty hope your back is feeling better and that Dr do not ignore it
Beighton scale but liek sparkle ds he is affected in other joints to but then some Drs get hung up that i is his other problems hat may be affecting not the Eds so we get left dnagling and no one really wnas responsoablilty for him ]]

.Next week he is at Gosh so that be intresting as now they have confirmed his EDs 6 dx all of a suddern they are intrestesed in him .Where i been fighting for 3 years to get him seen at GOSH

Ds appt was "interesting" I was very reserved and didn't rise to the comment that only paed orthopaedic surgeons based in London truely had the knowledge to help ds.....I could have screamed "thats why I wanted you to refer him to GOSH a year ago"....but I refrained....discretion and valour and all that jazz. He has decided in his wisdom that ds should be left in pain for 6 hours before hospitalisation due to his neck, unless neurology symptoms are detected......the school had major slight fit about this info this morning, rightly pointing out they are not medical professionals and can not make judgements about what is and is not a neurology symptom..... Fun goes on. Ds read star wars character guide throughout consultation, including being manipulated and examined He also requested of the consultant as to whether he could stay outside and read and mummy could just go into the appt for him...... I like his style

lol at Ds

Hmm so if they commented on it why on earth can they not do it .Can or will your gp do a direct referal for you to Gosh

Gp would but not sure GOSH will accept, as don't normally accept GP referrals. We are still on books of birmingham guy, but have told Rheumie that I am discounting local Ortho cos he can't make up his mind. He is going to get senior Consultant Radiologist to look at latest flex and extension mri, to see what she thinks. What do you think about this 6 hour thing. TA was shocked and thought it was tantamount to child abuse to leave a child in pain that long without medical assistance. I have lost my perspective about these things, being so inside it as I am and also trying to avoid hospitalisations and xrays when not necessary.

www.gosh.nhs.uk/gosh_families/coming_to_gosh/get_referred.html

says in some ways they may be able to

hmm its a hard one really is .Hate to be he teacher but make sure you have it in writing from that dr who said it at it is his advice and a list of neurological symptons .So in case of any isues you can kick his arse .

That is good advice, I will try. In the meantime I have told the school we stand by existing procedures, ie extreme neck pain = ambulance, everytime,no waiting, teachers aren't allowed to make a medical judgement, in fact a child exhibiting extreme neck pain would mean an ambulance call for any child, never mind one who has a history of subluxing cervical vertebrae.

ladies i need advice.

dsis dd1 (lisad123) saw a genetist recently and he queried EDS as her skin is quite stretchy. dsis shows me what he meant, and dh pipes up 'oh like this' and pulls his skin away from his elbows at great length and then away from his neck. dh had dilated cardiomyopathy, leaky valve and a subsequent heart transplant in 2007. he has long limbs, very flexiable.

dd1 has hypermobility and mitral valve prolaspe.
dd3 has low tone
dd3 seems unaffected
dd4 extremely hypermobile
ds appears to have hypermobility.

so what do i do? see the GP? can we self refer anywhere? should we do anything? do we NEED to do anything

Ok that is some family history you are describing there. I am someone who likes to get a dx sorted and clear, just in case it is needed in the future, even if it is not changing anything now. For instance 20 - 30 % of people with EDS do not respond to local anaesthetics and epidurals, so you may decide that it might be worth knowing if that is going to be a risk for your dc in the future. In terms of symptoms, presumably your dd1 is already under the care of someone for her mitral valve prolapse, so that is covered already. I good physio can help with low tone and hypermobility experienced by dd3 and dd4, and even ds. If it is EDS then either a rheumatologist or a geneticist will be the place to start, Marfans is also a possibility, considering your description of your dh's long limbs, which I think would fall under the care of a rheumatologist.

If I were you I would go to the gp with that family history and ask for a referral to either a geneticist or a rheumatologist, and get a clear and accurate dx, and get any support your dc might need. Having said that if all is fine, and the dc are not experiencing the pain, and dislocation associated with eds/hypermobility, then you do not NEED to do anything.

dd1 hs had a couple of dislocations. the older 3 all do gymnastics to help strenthen their muscles around the joints to stop dislocations. it has been notyed at the gym that they are very flexiable.

Misdee How do you feel about pursuing a dx?

I was earching for this thread last night and couldnt find it on my iphone

Weirdly enough it was my DDs seeing the genetics team as they both have a dx of autism. He sort of went "oh dd1 has very stretchy skins" but then said "oh better stop there dont like to over dx these things" so of course I came back and googled and then spoke to Misdee my big sister.
DD1 has very tight limbs, so certainly wouldnt fall under eds hypomobile but dd2 has hypomobility to the point of needing suportive boots.
DD1 had club foot at birth.

I am just about to email the genetics team and pass on misdee's family history, so will feedback will he said.

Can I just say.....arghhh I hate stupid doctors saying stupid things like "don't like to over dx" or "don't want to over medicalise.." (which personally I don't think is even a word!) "labels aren't helpful".....arghhhh

climbing off my soap box now

Lisa I hope you get something useful back from them, if not I would go to the gp and get a referral for a rheumie.

if dh would back me in pursuing a dx i would feel better about it. but dh thinks everyone can do it. even lisa was cringing at him doing it!

Go to online forum and show him the images.....and tell him from me IT IS NOT NORMAL!!!!!!

I will just pop off and find the links for you...back in a min.

www.ehlersdanlosnetwork.org/

www.hypermobility.org/painandhms.php

ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

thank you for the links. dh has a lot of issues with his skin, and is always siffering with infections from eczema etc as his skin seems to scarcth easily. he also gets a lot of bruises but we put that down to his meds and physical job.