Here some suggested organisations that offer expert advice on SN.
EDS Hypermobility(1001 Posts)
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.
hmm im expecting ds 3 to get his he scored 9 out of 9 on the beighton scale? sp. were seeing genctics as ds has a whole host of problems neuro said no as his skin not over elastic but then reconsidered when loooked at differnt clasfication , ds very pale cherub like with doughy skin so be intresting genectic appoinment next month
Mind me and ds 1 scored 8 out of 9 , ds2 and dd scored 6 and 7
Think you are all hypermobile then! Neither my ds or I have an real skin element. We are both pale, easy to bruise and slow to heal wounds but aside from me having a mountain of stretch marks (which I can almost certainly blame on having had 3 dc), we have nothing remarkable about skin. I think it is well recognised that EDS hypermobile type can, but by no means has to include any skin symptoms. Prof Grahame said to me that the problem with both the Beighton and the Brighton Scales is that they focused on a small number of joints and can provide a limited diagnosis. Are you seeing a rheumatologist too?
no no body at all , ds sees physio , neuro etc he was one who done referal to genectics
Im defintley hypermobile several dislocations and surgery sadly ds3 has had fair few to ,
Ds1 can turn his whole arm round and his elbow bends so far back it looks like comes out other side
Sounds like my ds, physio says it is only his skin which keeps his shoulders and hips from doing complete rotaions in all directions.... I would get the gp to refer you all to a rheumatologist even if it is just for annual monitoring, although your ds clearly needs more than that. It can cause so much damage to the joints, as I am now experiencing and I am only 38. Preferably you need a rheumatologist who has more than an google knowledge of benign joint hypermobolity and EDS, but in my experience that will be the luck of the draw. You can always ask for a referral to a tertiary hospitallike GOSH they have a hypermobility clinic as do UCL, which is where I and my ds were diagnosed.
My friend has EDS and the vascular type which has caused life threatening situations when energency surgery is needed.
It is very important for the type of EDS to be confirmed and monitored and there can be different types within one family as in my friends family, several are effected but to varying degrees.
You have my sympathy EDS is much more than just floppy joints and the impact can often be underestimated.
im wondering if genectics pick it up will refer as there going be gosh that were seeing there not sure if ds problems all linked or weather he has just been unlucky
sparkle i put some pictures up
thats ds 3 sat with his feet under him bear in mind he is also wearing afos yet still manges to roate his ankles/knees to tuck under him
the other is ds1 , he is actually facing forwards and then his arm is 270 degress turned round so twisted round backwards and then bit more almost back to starting point
I have three children all with BJHS. Am constantly fighting to get appointments, follow-ups, treatment. Have been told they can't be referred to GOSH and are not allowed genetic testing even though DS clearly also has other issues. Nice to see I am not the only one!!
roundthebend is there a link to your pictures, I may be being computer illiterate.
We have a photo of ds, sitting with his cousins in which he is sitting straight with legs out in front of him, with the outside of his feet lying completely flat on the floor. His hips have just subluxated as he sat there and allowed his legs to twist all the way round.
What are the main issues your ds has in addition to the hypermobility? My ds has the constant chronic pain and periodic acute pain, terrible kinesthetic awareness and these joints which you just have to look at for them to dislocate! He is far worse than I was at the same age. I have developed so many more bits and pieces that are contected to EDS over the years I am really frightened for him.
MrsVictor, why have you been told they can't be referred to GOSH, my gp said it is a tertiary hospital which will accept referrals for hypermobility (they have a monthly clinic) to help with the monitoring and development of a treatment plan/pain management plan.
Spakle try clicking on my name the. Should be there under photos if not will post link later and yes ds does the feet out thing to
He has the hypermoblity syndrome dx but if I understand correctly that's now eds type 3
Yes he has pain dislocations of his patella and thumbs has low muscle tone also oral dyspraxia he struggles with walking holding pen also he can't deem to get his arm to go backwards when throwing it'd to front and side so do wonder if his shoulders are pulling out
But his is complicated by how much is cp and what's the hypermoblity
I get the feeling that the difference between BJH and EDS hypermobile type is a spectrum rather than a different diagnosis, but heh what do I know. Since both my ds and I have had multiple dislocations and sublocations, constant pain etc it has been diagnosed as EDS. Actually initially ds's diagnosis was piggybacked on my existing one, but unfortunately there is no doubt for him now anyway. He has a high score on Beighton and Brighton, familial history, frequent dislocations and pain lasting years now. Poor kid
Yep ds is the same waiting on genetics to confirm EDs though he does not have over stretchy skin but us very pale that he makes a milk bottle looked tanned best way describe him is cherub looking yet he is not overweight at all intact under
You do not have to have stretchy skin for EDS diagnosis, Ds and I have pretty normal skin, although I am hoping just stretchy enough to ward off further wrinkles...there has to be a silver lining found somewhere Just out of interest, does your ds sweat a lot, my ds always does and always has even when a tiny baby he always smelt of vinegar, not smelly yet as only 7, but I don't know if this is connected somehow?
YES he always sweats was you able to see he pictures of it im pretty sure ds3 at least fit EDs an d realistally me and ds1
SparkleRainbow, GP refuses to refer to GOSH and the four paediatricians we have seen all say there is no need
DS is nearly seven and has had constant pain since (I think) 9 months, definitely 18 months when he became a bit mobile. He really needs a pain management plan. He also has a diagnosis of Co-ordination Development Disorder that I was only told about last week, although it was given in 2008. He has a speech delay/problem (no clear diagnosis as yet . He also has soft, velvety, stretchy skin, pain and hypermobility in every joint, wears Piedros and inserts, uses a wrist splint to write/draw and is absolutely gorgeous and incredibly brave!! Oh, and he gets very clammy all the time, but weirdly, feels very cold when he eats.....
DD1 is hypermobile in every joint, but only pain in feet/ankles/knees/thighs and lower back. Wears Piedros and inserts, uses a wrist splint to write. Has some Marfonoid features, but I am laughed at when I mention it.
DD2 only has pain in ankles but all joints are hypermobile, wears inserts, just about to push for Piedros, would do well with a wrist splint, but not allowed a referral to OT as 'not severe enough'.
I feel they would benefit from being seen at GOSH, even if only once, just so they would have been seen by someone who really knows what they are looking at. They need some kind of plan. Not me chasing sporadic appointments till I could cry in frustration, but an actual plan where they are seen and treated by the appropriate people. Sorry, didn't mean to rant
By the way, and they all sit exactly as you describe!!
MrsVictor, I am so shocked and so for you. This is all completely unreasonable.You need a pain management plan as much as we do. Do you know what the gp's refusal to refer to GOSH is based on? If they won't refer to GOSH how about referring to UCLH hypermobility clinic, on the basis of seeing a particular expert in the field, the GP can do that without any consultants, and they specialise in Marfans, BJH and EDS hypermobile type etc. Where are you in the country, because I think Sheffield University Hospital also has a hypermobility clinic where they specialise in diagnosis.? I wonder if you can write to the clinic yourself, explain everything in as much detail as you have, GOSH have an online referral guidance for medics to follow I downloaded it last week for my GP, so you could included all the information they need, and explain that you are having to write to them yourself as no-one will take you seriously, maybe they will write to your gp and say they would accept you all? Could be worth a try, even if it gets nowhere. I am so sorry and so angry for you.
Roundthebend4 - it is official I am IT illiterate I don't know how to get to your pictures. I can't find any links, what am I doing wrong? I don't know how to post the picture of my ds either to show you.
I have always wondered if the sweating it connected somehow, my Dad did it too, and so do I, we think we inherited EDS from my Dad, although he died before I learnt a lot of this. He did have low blood pressure like me and ds, I think he didn't respond to epidural pain relief either, he did have funny hips too. (and I miss him still )
Sparkle will post better link later,I'm having be carefull of asking for referalls intervention ATM as already got a name for disagreeing with proffesionals
But since we have referal for gosh genectics in September wonder if worth mentioning it to them and if they can get us seen by gosh.Though think I'm going to print out the checkist for type 3 show paed etc when see them
Reading on wiki ds3 ,ds1and myself seem fit cretiera fir elds type 3 at the very least with ds3 possiably more
Roundtb4 I am sure when you talk to the genetists at GOSH they would be able to refer you across to the rheumatologists there too. I would hope so, it would be bonkers if they couldn't. I know what you means about disagreeing with professionals I actually said to my rheumatologist last week, that with no disrespect intended she didn't know enough about EDS. I don't acre about me at this point, my points are already damaged, some beyond repair, but everything I learn now could help me protect my ds. At least my gp is fantastic, I was able to say to him that it was clear I knew more about my son's condition than the the Consultants who were treating him, and I knew I didn't know what we were doing, so could we please see someone who did. He agreed with me.
I am feeling very down about it all today, feeling terribly guilty for giving this to my ds. He is such a wondeful little boy and I don't want to lose him.
ok hopefully this link will work
Ds1 in this picture is facing forwards but has twisted his hand round backwards then a bit more so 270% so it looks like is facing forwards
Ds 3 you need to bear in mind he is wearing afos and piedros in the picture so lol even the physio said this should not be possiable and if not seen it herself would not believe it
please dont feel down on yourself i to understand the horriable feeling of giving your child something genectic wise i do with the boys and with dd who has couple of genectic condtions and i to have days where i hate myself
sorry ment to ask is there a link somewhere that i can print something of to show the paed what im talking about it not having to involve the skin ,
Hope these help, there are many on the net, some of which say skin element is needed for EDS some don't. I was diagnosed by Professor Grahame, a long time ago as having ESD and I have never had the kind of stretchy skin which you can see demonstrated sometimes. I do have smoothy velvety skin as does my ds, and we do bruise easily, heal slowly and I have stretch marks from puberty as well as vast number from pregancy by badge of honour
Ty yep Reading it me ds1 ds3 fit without a bother in to it though ds does have the veins viewable so might be more
did the link work ? For pictures ds hyperextension is measured at plus 40 on one knee plus 30 on the other so both past the 10 needed on his ankles he can turn round plus his foot bends up to touch his shins
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