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.

we are not good to be honest, had lots of appts on tues for physio for me and ds but dd2 screamed and screamed and then we had to wait nearly an hour for a taxi and i ended up crying in public.

yesterday was equally as bad, tried to get ds to pre school and he screamed and begged me not to leave him they had to prise his arms from round my ankles, so then i stupidly burst into tears again dd has got very painful legs and has been really struggling and to top it all off ds woke up this morning being sick constantly and screaming that he has tummy pains.

I keep trying to tell myself that things wont get any worse but they always seem to im hoping this is a bad patch and itll soon improve.

GP appointment went well. GP admitted that he didn't know much about it and wasn't sure when the best time to refer would be. He's going to talk to the paediatric rheum team locally and see what they suggest - whether they'd like DD referred now so we can touch base and discuss anything we can do to help or whether there's no point until she's showing issues. He also looked up the HMSA site during the appointment and when I mentioned I knew someone involved, and also had met Prof Grahame through my work, said to use any contacts I have. I'm going to email Gila from HMSA and Prof Grahame & our GP is going to talk to the Paed Rheumy team and we're going back in 2 weeks to discuss what they say.

ariane5 - are you getting any help as a disabled parent and parent-carer? The carer organisations can help alot and I know the Disabled Parents Network helps some people too.

Oh Ariane you sound so down. It is just a bad patch, I am sure.How is your ds today?

japhrimel, I am glad to hear the appt went well. Hopefully when you meet the gp again you will have a plan of action together.

Does anyone know if you can still apply for a blue parking badge with gp support rather than having to have dla?

Prof Grahame got back to me really quickly and suggested that DD didn't need a referral if she wasn't showing problems yet. As hypermobility is so much more common in children, the hope would be she grows out of it to some extent or at least doesn't suffer too much from it. He suggested that if/when she shows issues we get a referral to GOSh but said they don't accept under-5s anyway.

SparkleRainbow - blue badge rules always used to be set by your local council, so I'd ask them. Some accepted GP support, others didn't.

Meant to say as well that I went with a friend to get baby footprints done and they commented that DD has really high arches (like me) so hopefully that's a good sign!

That is good news, are you feeling better about it?

I know you have contacts within the system, but how did you get through to Prof Grahame?

Yep, feeling better about it. Still rather guilty and a bit nervous for the future when I feel DD's joints move, but we're trying to be positive and hope she won't have HMS, just be flexy! And actually her Dad has never really had issues with his hypermobility, even though his Mum has said it explains why he was different when learning to stand as a baby. So hopefully she can benefit from the creative mind set and flexibility without issues. At least we'll know to get her help as soon as she shows any issues.

Prof Grahame had attended a couple of professional events I organised with work. He's an amazing guy, really lovely.

He dx me years ago, and ds, I really liked him, but getting back to see him is proving impossible!

we are a bit better today, ds seems a lot better (his head/tummy pain/sickness/dislike of light turned out to be a migraine again) but hes ok now. Had a bad night as he was up six times with back pain and uncomfy and fidgety but i thik thats due to having hydrotherapy yest and working really hard in the water it was all a bit much for him.

Sparkle-where iam blue badges are given either through receiving dla or if your gp thinks you need one they can fill part of the form in instead so it might be the same depending on where you are.

my mum had dd1 last night for me as it means dd can have a bit of a lie in this morning as she is getting exhausted getting up so early (my mum lives near the school and works there so can take her in for me) dds legs are really sore every morning now, if she forgets something from her room she cant manage the stairs to go up and get it and says shes so tired and her legs ache terribly, it takes her a good couple of hours after waking to start to improve a bit and she seems very tired most of the time now.

I had a lovely comment the other day from a mum at ds playgroup who overheard me talking to the leader there about ds having morning sessions when he starts school, her first reaction was 'nobody else got the choice of am or pm sessions why did you??' when i explained about ds she looked him up and down and said 'well, you wouldnt know by looking at him he looks fine to me'
I went home and cried to my mum that i was so unhappy and people just dont understand, that woman does not have to get up every hour in the night to a child in pain, she has no idea how many hosp appts/physio/hydro i have to go to or how difficult it is to get him up in the morning.She doesnt see him when he is screaming in pain and throwing up with a migraine nor has she had to sit for hours in a and e with dislocation after dislocation and d ont even get me started on how hard it is to feed ds and avoid anaphylactic shock because his allergies are so bad. She sees him maybe two or three times a week if he is well enough to go to pre school and i was so angry especially after the rubbish couple of weeks ive had.

sorry rant over i just wanted to get all that out

DS is 8 and has Asperger's and Sensory Processing Disorder as well as EDS Hypermobility.

He was flexi-schooled for a few months, coming home in the afternoon. He was just becoming exhausted.

He has gone back full-time over the last few weeks and has coped well with support but he is so tired. He lolls and flops all over the place at school and the tiredness increases his oral sensory seeking behaviour.

Over the weekend, we could barely get him to walk around, he was so floppy and cried while walking around town.

I have been in touch with Gt Ormond St as they have been seeing him. I don't know what the answer is long-term though.

Has anyone else been through this? It's like the world is literally too heavy for him sometimes!

DS2 suffers a lot with tiredness. He's only 3 though so not a huge problem at the moment but he has missed a lot of preschool.

Thanks. It's so hard to explain to others isn't it? They can see he's floppy and lolls and leans but the tiredness is just dreadful for him sometimes and it really affects everything he does.

Fortunately, school will put it down as a medical reason and authorise the absence but I really don't know if there's anything else that can be done to support him.

My ds goes through stages of exhaustion and more floppiness, it seems to be connected to growth spurts for him. I mean that in the sense, he always has the chronic pain, but the acute pain accompanied by just being constantly drained, paler even more than usual, too tired to walk, or play, all that tends to happen when he is growing. He is 8 now, and has eds hypermobile type.

Physio is the only long term support, and it is not a solution, but building the muscles around joints does seem to help my ds and our rheumatologist said pain relief and physio is the only "treatment". I have read about children using lycra suits if they are floppy in the extreme, it adds an exoskeleton in effect. Tell me if you need a link to see a lycra suit and I will see if I can find one.

Bless him, ds got through his flexion and extension mri today, he was a real trooper, and I am dead proud! Now we just have to await the consultation after the mri has been reviewed.

Physio really can make a difference - I used it myself. If the muscles are strong and relaxed, they can support the joints.

Hypermobility does IME lead to lots of myofascial pain/tension as too much strain is put on muscles. One effect of that is feeling like your limbs are too heavy to move and it actually restricts the muscles, so making movement harder and putting extra strain on joints. Specialist massage can really help adults with this issue - I don't see why it couldn't help kids too.

Hi sorry am catching up ,life has been rather chaotic

Araine how are you and ds doing any more news on dd surgery date .

Sparkee

Am so glad ds manged the Mri and you finally get some answers .How is he getting on with his neck collar

Jap All in my family have eds but it only really affects ds3 badly .I had dislocations knees shoulders but am ok .

Ok now my shocker .I thought proffesor Pope had confirmed EDS type 3 but Paed had differnt letter seems they send parents letters that have been simplified and infact he seems to think Rio has Eds type 6 .Which is completley differnt as is progressive
of Kyphoscoliosis (Formerly EDS Type VI)

Generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth are seen in this type of EDS. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type present with Scoliosis at birth that is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.

Tissue fragility including atrophic scars and easy bruising may be seen in the Kyphoscoliosis Type. Spontaneous arterial rupture can occur. Other findings may include: marfanoid habitus (Marfan like features); micro cornea (abnormally small cornea); and radiologically considerable osteopenia (diminished amount of bone tissue).

Kyphoscoliosis Type EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnosed through a urine test

So guess who tomorrow will be phoning Proffesor Pope and asking what results were from the urine test and requesting copy of exact letter paed has .As If case it is something that everyone needs to be aware of in case of accidents .Am shaking with anger that i did not know he thinks is this and worry incase it is confirmed that is the case and lol theres sw saying it will not make any differance to him

This is very shocking news THC! How could they muddle their explanation to you so much that you go away thinking it is a different form of eds altogether. My mind is spinning in terms of have they done the urine test and now changed the dx they gave you, have they muddled the results with another child......oh my gosh. I am sending big hugs and best thoughts. Please let us know what happens when you ring today....good luck. x

well I called today and apparentley it is normal to send out two letters one to paed and one to parents and lol apparentley parents is a simple orm incase we do not understand the complicated one but to miss out something out completley is another thing .

But yes called them the tests are showing that it is looking like the rare eds 6 or one even rarer one of the eds type 7 .Full letter same as paeds is coming out apology given as they often worry about telling parents in letter and rather that it came in person , but lol not like how i found out .

He wants to get Rio in for a tissue and muscle biopsy just need to sort dates as it has some very serious risks attached to either of them and both are very rare

sparkle even paed agreed looking at letter they sent me that it seemed to say we all had eds 3 but Rios was more marked than he would normally expect .

Hers went into deatil with latin names etc apparentley thinking parenst would not cope .She was sorry that I found out like that bombshell in a meeting she presumed i had same letter

That is right, we are all idiots of course and deserve to be treated as such.....telling you the wrong dx was clearly the way to go

THC this is so dreadful, how are you coping with the propsects of type 6 or type 7? Have you googled or stayed away for now?

The local ortho has confirmed subluxation of cervical vertebrae to me in meeting, god knows what he will actually write though, but we have good news I think. The Birmingham Ortho Surgeon who I was told would not agree to see ds has sent him an appointment for sat 16th July. I have just chased the hospial to ensure that the current xrays and mri are senmt to him. I don't think the mri will show anything though, they didn't flex him enough and they didn';t extend him at all!!!!! Arghhhhh! I am still going to end up with no answers.

He has started his new school though and it is lovely, LOVELY LOVELY, I could cry.

oh fantastic that ds has started his new school i take it they are being supportive .

Good that you are seeing orthpeadic but am wondering if neuro be better option as is his spine/neck .

s for type 6 or 7 yes I came straight home and googled it, i was promised a call on Tuesday from eds guess what nothing arghhhhhhhhh

Hopefully when the ortho has properly looked at how the vertebrae are moving they will then refer to a neuro.....or establish that the instability is not too bad....am I hoping too much . Got a call from specialist rheumo nurse last night on behalf of rheumo to say I should telephone local ortho surgeon and apologise for taking ds to see birmingham surgeon, so his "feelings are hurt". This is the rheumo that referred him to birmingham in the first place because ds wasn't been coped with locally.....why exactly should I being consoling consultant';s egos.....and do I really care how the consultant "feels"... Blardy medics

meh i wuld not even bother , why should you hello he is proffesional not your job ,Hell otherwise i would have a very long line of proffesionals with hurt feelinsg

I have written a letter to local ortho, syaing we are going to birmingham consultant, please send the recent x-rays and mri scan, and an appointment to see you in clinic......no apology for hurting his feelings. With no disrespect intended at a basic salary well in excess of £100,000 he can afford to buy himself some armour to protect his feelings.....thank you THC.