EDS Hypermobility No. 2

[SparkleRainbow]

We reached 1001 threads, so here we go with a new thread. This thread was originally started so we could get together and share experiences and expertise in Ehlers Danlos Syndrome, Marfans, Benign Joint Hypermobility, and any other medical conditions including connective tissue disorders which cause joint hypermobility, pain and all the associated symptoms.

Was just the ward paed so unlikely we will ever see him again, but will use it as a good argument for paed rheumie..... If I get nothing from her I will push the GP into it, on basis ward paed said it was necessary, GP is good so am sure he will, just have to hope they listen to referral from GP.

OT input was very good. The freedown load Typefaster is the best typing programme, ds is leanring with that and it is really good. The lessons are quite long (10-15mins) but you don't have to actually finish each lesson. Have a look, I will post a link for you. Good positive and detailed info about seat and desk levels, all round good input.

Did I tell you I got a letter this week and dd2 has been accepted at nursery at the school where ds and dd1 go.....fab news as she couldn't actually have gone anywhere else.

Good to hear you have both had good OT input this week. Long may it continue.

Sparkle, that typing programme sounds interesting. Ds1 was learning using BBC Dance Mat Typing, but needs something more intensive before he gets his laptop (which was unbelievably written into his statement for the school to provide ).

Congratulations to your dd on getting into the nursery you wanted her to go to Sparkle. We had dd's confirmation that she will be going to the same school as the boys this week as well. Can't say I am that enamoured with the idea of another 8 year relationship with the school, but as they say, sometimes it's a case of better the devil you know.

Had the meeting at school this afternoon. It was very uncomfortable, but we got through everything and by the end they had agreed to doing everything I asked to help ds2 manage his pain and fatigue and also to make sure he is appropriately seated etc. I explained about the potential for an EDS dx and they were actually pretty on the ball about it and told me that they can set up a care plan and will work with me to make sure all his needs are met. They also said that they could see how hypermobility related pain and exhaustion is likely to present as a barrier to learning (I love that phrase - used it right the way through ds1's SA request ) and would therefore do whatever is necessary to help him overcome those barriers. All in all a much better outcome than I expected, although I suspect I am still persona non-grata in the staff room.

Also had a bit of a light bulb moment about my own health today. I suddenly realised that my atypical ms brain lesions (which apparently look more vascular than MS related) and accompanying stroke-like episodes could be attributed to EDS and potentially fit that dx better than the MS one. A quick Google later and it seems my suspicions could be right, so I definitely need to contact both my neurologist and ds's paed to make sure things are properly followed through and investigated (of course I have to contact the paed anyway to update the family medical history). Here I go again making a full on pita of myself, being a pushy parent/patient.

Hi, hope it's ok to join this thread and ask some advice? My ds has an appointment with Geneticist next week querying EDS. He doesn't seem to fit the typical picture of EDS so we're really confused about it. He's 18mths, has low tone, still isn't walking, has very flexible feet, talipes, poor wound healing & very soft, papery skin. I don't think he's particularly flexible in general but his feet and legs certainly are and he can do strange things with his fingers. EDS runs in my extended family.

I was wondering if you could please tell me what we should expect at this appointment next week (apart from a long detailed history) and how long was it before a diagnosis was made? He's also had recurrent respiratory and kidney infections, has anyone else had experience of that or is it totally unrelated? I would really appreciate any advice or insights that you could offer, thanks!

Hi Nature Our first genetics appointment involved a very detailed medical history (they asked how tall all of mine and DH's grandparents were for example). They also tested DS2's reflexes, height, weight and took photos of him. DS2 has been under the paeds from 4 months with failure to thrive and low muscle tone and although most people are saying he probably has EDS we haven't had an official diagnosis.

None of my boys have had respiratory or kidney infections but with EDS the symptoms vary a lot from one person to another.

Sparkle - excellent news on the nursery. I too would be interested in the typing link - DS1 gets very bored and loses interest quickly - or just finds it difficult.
Moosemama - kind of good news re school. At least the school know that they have to take what you say seriously and you won't need to go through the phase of them doing nothing to see if they can get away with it! Keeping everything crossed that they will carry through with what they have said. Do you think they got the 'barrier to learning' from your SA and thought they'd throw it back at you?
Think we'll have to start a pita club. As we know - its the only way to get anything done!
NatureandNurture welcome. Still a newbie myself. DS1 has been told several times by different paediatricians that he is hypermobile, but a reluctance to write anything formally, or follow up on any concerns - hence my complaint. I do wonder that as there are other issues too, that they can explain some things away by other dx.

Auntevil, no, completely different teachers to ds1, so they wouldn't have read my SA request. I think ds2's teacher is fairly NQ and keen, so I reckon that's why she's up with the lingo.

Hello NatureandNurture, I'm another newbie on the EDS thread, but regular on the SN boards. I have ds1(10) who has ASD, ds2 (8) who was given the working dx of Joint Hypermobility last week and dd (3) who at this point seems to be fine in both departments.

Hi Everyone,
I was pointed in the direction of this thread by Sparkle (thank you!) and am hoping for a bit of advice. It concerns me rather than any DC.

It appears that I am hypermobile - after sustaining multiple and serious birth injuries when i gave birth to DD 19 months ago, the gynaes/physios/orthopaedic surgeon putting me back together have all commented that I am hypermobile and that this undoubtedly was a contributory factor to the damage that I sustained. This is all news to me - I thought I was just interestingly bendy and that most people's bodies could do what mine does (grew up watching loads of ballet, gymnastics and ice-skating...).

At my request, my orthopaedic surgeon has referred me to Prof Rodney Grahame (thanks again Sparkle!) for his opinion and assessment. I am keen to get an actual diagnosis as well as an idea of if there are any associated health problems I need to watch out for either now or in the future. I'm also concerned about DD - I believe my now-deceased mother was also a bit hypermobile. But 19 months is probably too young to do any sort of investigation?

I'm asking everyone involved in my current care for birth injuries to write to Prof Grahame and give a summary of their diagnoses. But I'm wondering what other information I need to provide him with and questions I should ask.

In terms of existing/previous health problems/stuff that might be relevant is:

• low blood pressure and dizziness on standing
• easy bruising
• stretch-marked to all hell during puberty
• IBS
• Raynauds syndrome
• sacro-iliac pan
• birth injuries
• premature vitreous detachment (not sure if this is related to the retinal thing I read about and can't remember enough details about to describe it adequately or give it a name).
• He can judge my bendiness/joint clickiness/limb length & wrist/ankle thinness himself.

Is there anything else that might be relevant? I assume he'll ask me a whole load of questions about my medical background though....

In terms of questions to ask, I was just going to focus on whether there are any associated health problems to watch for. Even though I was totally ignorant of the fact that my bendiness is neither normal nor merely interesting, I am quite body aware and, at least pre-pregnancy, I was doing lots of pilates to strengthen my centre and made sure that I didn't over-extend (as tempting as it was to go into huge sweeping movement!). I'm mid way through my surgery to repair everything and have a rather unpleasant session scheduled for the middle of June. I think it will be the end of the year, at the earliest, before I can get back to exercise properly.

Anything else I should ask him?

Sorry this is so long! But thanks for sticking with me! I would be so grateful for your advice!

Hope you are all having a nice weekend. X

Prof G saw DD2 a couple of weeks ago - he has his own checklist of things he runs through first of all (which includes a physical examination) - for DD that included did she crawl or bum shuffle, at what age did she walk (I was rubbish at that, she's one of three, and I get all the baby stuff mixed up ). There was quite a bit of family history, but only to establish if there is/was hypermobility/EDS in the family, so he only went back through one branch of our family as he got positives there.

He was very proactive about his recommendations and what he was going to do next by way of referrals, and finished up with "was there anything else we wanted to ask". He was also helpful re the other two DDs, and whether they needed to be seen (not if they're just hypermobile, but yes if they have any problems because of it), and if so where (we were at a teen rheumatology clinic, and the others don't fit into the age group for that)

We were with him for the best part of an hour, and we came away feeling really reassured that everything had been covered. He seems to have a thing about ballet - he told DD she did ballet rather than asking, and from what I've read of others experiences, it seems to be if you've got as far as a referral to him, if you did/do ballet, then you are automatically hypermobile.

Can't help re if your DD is too young, but there are plenty of people on this thread with little ones with EDS who will know more. She would be seen at GOSH though rather than by Prof G (from what he was saying), and they have mixed reviews (to put it politely).

Thanks Midnight. Hope DD is OK. I did ballet too . An hour is amazing! I'll mention DD to him and see what he thinks. I have a friend who works at GOSH and who also gives it 'mixed' reviews.... One other question - when you were referred to Prof G, did his secretary contact you to make the appointment, or did you have to call yourself? I don't have any contact details for him, other than that he consults from St John's and Lizzie's....

the appointments people at UCLH wrote to us, and I had to ring up and make the appointment. If you're going privately, then presumably you'd do it directly with his secretary. There's a whole long thread on the hypermobility forums here about appointments with him, plus contact details.

DD2 doesn't have the same issues that most on here have (no pain, dislocations etc), her problem is fainting (POTS) which Prof G doesn't want to/can't manage, so is trying to sort out a referral to a different professor at St Marys, who annoyingly doesn't see children, so not sure exactly who we're going to end up with.

Hmm mixed reviews and feelings about GOSH . They was anti any support eg boots/wheelchair etc after an intial think 5 minute appointment !!!very much brush of

We eventually got onto rehab course and they changed tune after a week . But they ate not do keen when it's not straightforward Eds and dc present different . So were in limbo yet again

Sparkle fab news on Dd getting place in the nursery with the others

Ariane how are you ?

Cardo

Dx is not often given before 5 unless theres other matters at play as most children are flexiable up till then . Though am aware GOsh may consider younger

Thanks guys.

Well had Ar and new school got shock when they saw the reports but do seem very supportive 1-1 needed for swimming .Pe he will get support to and they said that they will need do risk assements .And since they do yoga can the yoga teacher call me as well

They agreed the Pd Team need in and now also they are pro active going to get Ot that covers the school to cobntact our Ot and sort out seating for school before the holidays

Also will provide support in Ms 1-3 at the most as recognise he has complex needs above and beyong speech

proof be in his statement but new school seem pro active

and it seems GOSh are doing a 360 about wheelchair back to no wheelchair seems impression I got today on phone .bangs head on brick wall

So that's him not going to be able to go swimming or trips then as new school said without one they will not be able to take him as takes to long to get anywhere .with him

But have meeting In June with rheumo back at GOSH am sick of the changing of minds ffs

It all sounds very stressful THC. What reason did they give for backtracking on the wheelchair?

Is he due to start the new school in September so you have time to make them change their minds and give him a wheelchair before then?

I called to ask ds's paed's secretary if he was likely to want the additional info and family history we found out and she gave me his email address. So I sent him a message yesterday to explain that we've found out a few interesting things in the family history and would he like me to send him a typed up version. Had an email back this morning to say yes please, so have just emailed it back. I suppose all I can do is wait and see what his reaction is now. Is it going to be 'mad over-anxious mother adding up two and two and getting five' or 'hmm, yes Mrs Moose, you could well have a point, we need to look into this a bit further'? Should we have vote do you think?

Can I ask a quick question please. When your dcs have either soft tissue or joint pain, what is the best analgesic to give them. I have read that ibuprofen is the right thing and his teachers now have a bottle of calprofen to administer if he's particularly bad, but I wondered what everyone's experience has been of ibuprofen vs paracetamol.

He is doing OK at the moment. A lot happier since being taken seriously by both a doctor and his teachers. He was singing away at the weekend and listening to him, I suddenly realised it's an absolute age since I heard him do that, yet he always used to be such a happy singing boy.

It's definitely helping to make sure he always has a footstool. We forgot on a long-ish car journey on Monday and he got a bad cramp within half an hour. We stopped and put his sister's backpack under his feet and he didn't get it again - so there's a lesson in that I think.

Sorry I have been off for so long. It has been abit of a slog with ds, but I have finally got him back to school, albeit in slippers (subluxed ankle caused soft tissue damage) and still with neck pain. I have badgered hospital ( rheumie couldn't be bothered to make an appt for ds after discharge) and seeing rheumie tomorrow.....just getting myself together for the battle!!!!! I hate the rheumie, he is rude, dismissive unempathic and unimaginative. I have had to talk to ds about him basically having to break down every little thing in ortder to get the Consultant to understand....and NOT to say "I'm fine" just to get out of there, nor to say "it doesn't hurt" just because he hates rheumie too, and is trying to make rheumie happy. ARGHHHHH!!!!!

cardamomginger - I am glad you came across, I told you they were great. Prof Grahame has a check list which will cover most of what you listed....my brain has gone a bit, but I can't think of anything else off the top of my head.

nature - welcome I ma glad you found us. I know you said your ds doesn't seem to be typical eds....but what you described is very typical. The hypermobility doesn't have to affect every joint, so the fact that his fingers, knees, toes ankles and hips maybe hypermobilie is certainly enough.

THC - grrr re wheelchair, will they make up their blardy minds! What on earth are they basing thie change of opinion.....can school write something that supports the wheelchair position, in order to allow full access to school life and curriculum?

typefaster link www.typefastertypingtutor.com/

Sparkle, is there a different rhuemie you can be transferred to. My MIL had similar problems with her neuro, he was so rude and arrogant, didn't listen to her and she ended up having a major seizure and being blue-lighted because he didn't listen to some of her symptoms. I think she went to PALs and her GP to get it sorted and is now under the same neuro as me, who is lovely and really listens.

Thanks for the typing link.

He is the main rheumie who takes all the paed cases....It is a shame because me rheumie who is part of the same team is brilliant, and specialises in connective tissue disorders, but is not "allowed" to take on the children's cases.

Remind me guys, will UCLH take paed referrals, or will it automatically go to GOSH, and is the pain clinic based at GOSH or UCLH. The UCL website says they will accept referrals from GP's as part of the Governments click and choose service. In my experience with the orthos for ds, the PCT wouldn't allow a referral to Royal Orthopaedic Hospital until local hospital had put it in writing that they did not have the local expertise.....Rheumie will never ever admit this, even if it would be for the best for ds.

Prof G told me that if DD3 (age 10) needed to be looked at, it would be at GOSH because of her age - the clinic DD2 went to takes 13-18 (Adolescent Rheumatology under a Dr Sen). I can't see on their website any paed rheumatology, so presumably, yes, it would be GOSH for under 13s.

Sparkle thats been my experience of rheumo they seem to treat it as it's just EDS and because they deal with kids with JA they seem to dismiss ours as nit suffering struggling

Because of Ds age it will passed to Gosh

Am going to see what happens in June when we go and if they are still anti it though had another conversation with another tean member who is mote open to it as Ds does not fit the profile

will suggest they talk to the school themselves about how to mange it because I'm sick of it all and they are forgetting their is a little boy caught in the middle of this

moosemame - there's some pain stuff here - seems to be saying start with max doses paracetamol to keep ahead of the pain, then add in as required. I know when the DC were younger and had earache or similar (and when i had foot surgery) it was recommended to alternate paracetamol and ibuprofen, meaning you could take something every two hours, up to max doses obviously).

DD2 has been advised not to take ibuprofen as she gets heartburn/gastric problems (and I was ambulanced to A&E with chest pain (possible heart attack/blood clot) after taking max doses of both after surgery - pain went away with gaviscon, but that was the last thing they tried (after numerous painful blood tests - arterial bloods anyone?). So she's stuck with just paracetamol, but can use ibuprofen spray (currently coping with a bruised knee ligament ).

thc - at least school are being supportive, fingers crossed you get soemwhere eventually with GOSH.

Thanks IShallWearMidnight.

Sparkle, I hate it when you're up against one of those arrogant consultant types that just won't admit they don't have all the answers and refuse to refer to someone who does/might. Even worse when it's little ones that are suffering because some medical bod can't/won't get past his own arrogance.

Ds's paed actually said, I am no expert in this, so will take it to someone who does know what we're looking at, which I actually found quite encouraging.

Not sure where ds2 could end up - we are West Mids/Warwickshire border, so nowhere near UCLH or GOSH. Haven't a clue how good the paed rheumatology dept is at our pct.

Moose - I meant to say we use both paracetamol and ibuprofen for ds...alternating as midnight suggested. It works for ds, he is undecided as to whether one works better than the other.
Paracetamol doesn't really touch it for me, but I am allergic to all NAIDs (risk of anaphalatic shock, heart attack etc) so paracetamol or codiene is the only thing I can do.

We used to live in Solihull, but I saw Prof Grahame from there, and so have no experience of any other pct. I would suggest Birmingham Children's Hospital might be the place, but I have no experience of their rheumie department, so a little googling may be called for.

THC - if the school will talk to the consultants that is something, at least it won't just be coming from you. Small mercies that though.