EDS Hypermobility 3

[elliejjtiny]

Not sure how to start this off so I'll just copy and paste sparkle's opening post from the last thread and hope I've spelt hypermobility right in my thread title .

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.

Well were playing ping pong with hospitals Ds collapsed today luckily they got to us and local his pulse was just over 70 ( should be at least 85) his BP was 80/40 dealthy White and limp and floppy yet 2 mins Earlier was fine and happy Conplete change from taci cardiac last week to braci cardiac today

So hospital who went erm we phone St Marys who advised 4 hrs later he was fine happy chatty back to normal so not going today but we may need to go on Monday ( had previously tried phone Dr minis but sectary on Annual leave ) but the pars on call at St Marys is going to talk to get Monday as it's her special area so may need seem quick

But they said any more it's 999 to local then local have instructions to make sure stable and then to transfer to St Marys

Local are happy as admit EDS /pots /cardio not area

Any update THC?
Just come back from a few days away - picked a sunny few days (packed mainly for storms though!)
Depressing news slightly from school. DS3 looks like he might be displaying similar signs of dyspraxia to DS1. I've always found it difficult to work out if DS3 copies DS1 or they are similar due to habit. We have already been told it is likely he is hypermobile (as we have with DS2) - but his teacher pointed out traits, and asked if I had any concerns. So I agreed to go down OT assessment route.
I think I find it a little depressing as the more I think about it, the more I think 'dodgy genes' which on a good day I have to own up to 50% (bad day and it's 100% DH ). You want to give your child every advantage in life, but it might be me and DH that have given them a disadvantage.
Thoughtful reflection over - back to positivity.

THC - how's it going now? Were your hospital able to speak to St Marys and get anywhere? I assume the sec is on annual leave because Dr N is too (for all of July!).

aunteveil - my mum has been getting a bit maudlin because most of the stuff which we've had wrong with us has come from her side of the family - I agree though, it's hard when you obsess over everything when they're small, get a bit more hands-off as they grow up, but it doesn't matter really cos you've handed them on rubbish genes . The only thing we can do is fight for treatment and support, and not let the buggers get us down .

Were home for now local hospital not sure what's going on but it's nice that yet again been witnessed by others .Dr ninis is away at the moment bur hopefully be emergency appointment ASAP Secetary is back Dr ninis back next week and were on urgent list as fortunate or not his collapses been witnesseby medicas also there'd no wrangling as GOSH are not seeing him anymore as they agree something's up so not in their clinic remit (yay )

Hoping we can keep under her for everything in general as IRS not yo far for us

Yup understand the didgey genes I given all mine a dodgey set but ds3 obviously felt not enough ANC mutated a set if his own

Aunt

Ug on possible dyspraxic but glad the OT referal Beeing done

Am bit fed up as we seem have appointment every week either ds3 or ds2 and am sick of it

Anyone else dc have constant direaherr I'm sure ds2 has EDS but mainly gastro side

How is everyone else surving holidays ?

Oh and ds2 Bmi is only 16

THC - I'm not sure whether I would prefer an appointment every week, or as per the last 2 weeks - 8 appointments! I seem to have one of those diaries where there is nothing for a month or so and then I get appointment overdrive. I even had 2 appointments last week, same afternoon, for 2 different DS in 2 different hospitals - and made them both! (takes bow - and olympic medal for using public transport and it all running on time)
LOL at THC's DS3, very individualistic - looks like my 3 took the same genes and didn't bother to look around for any others or mutate their own. Most people that know us reckon looks wise, that they are really triplets - just that I had them in 2 year intervals!
Diarrhoea - I could write a book about. The thing is, you get quite blase about it. It has to be really bad these days to even register on the 'this isn't really very nice' scale. . Me and all DS have IBS - all the diarrhoea version. DH always says 'it isn't natural', but like I say to the boys, you learn to live with it and just get on with life, you can't let it stop you doing/going/being what you want.

Yes, DS2 and DS3 get random diarrhoea.

Hi all,

Not been on for a while - again. Things have been ridiculously busy over the last couple of weeks and ds2 has been very poorly with a chest infection. He scared me last Friday by spiking temps close to 41 degrees that wouldn't come down with Calpol. They only came down about half a degree after giving ibuprofen as well, so we were off to hospital to get him checked. He has a history of atypical presentations of pneumonia and was ringing all the alarm bells.

He'd had a cold for about a fortnight and was tired and lethargic, but not coughing. Then on Friday he suddenly started complaining of pain in his stomach and bottom of his ribs, followed by the temps - all pretty standard symptoms for him having pneumonia in the past.

Fortunately we caught it early enough and they felt it was a bad chest infection rather than pneumonia. He's still on antibiotics and will probably need a second course, but I am so relieved that he didn't end up in hospital this time.

Anyhoo, back to EDS. We have news there as well.

First of all, it turned out my Mum's insurance didn't cover a referral to London, so she can't go and see Prof G, BUT she has had a painful shoulder for over a year, which her pilates instructor thought was a rotator cuff injury and has been helping her gently exercise. Well, it got much worse this week, so she went to the doctors only to be told it was a bad dislocation, one of the bones has become lodged under her collarbone and because it's been so long, is now fused there. Apparently there's nothing they can do for it other than inject anti-inflammatories. She's had an mri to double check the dx this afternoon, but the consultant was pretty sure about it. Apparently it happens to a lot of rugby players. So - not just a sub-lux, a major dislocation. Kind of backs up our theory about the family history.

AND

Ds2 had his physio assessment this week. Lovely lady, did the whole Beighton scale with him again, took a history and said she agreed that the Consultant's dx of 'lax ligaments' is not a dx at all and totally unsatisfactory. She said ds is extremely bendy and given the family history and amount of pain she wanted to take his details to a colleague of hers who specialises in EDS and hypermobility. She said at the very least he should have been dxd with BHJS.

So, she gave us some basic advice, told us to go swimming, but not swim, just walk/move around in the water using the resistance to build leg muscles and to try and get him cycling. She didn't want to do anymore until she had spoken to her colleague, so ended the appointment there and went off to talk to her colleague and do some research about who might be able to help. She's booked us a double appointment for next week to discuss what her colleague advises and hopefully start teaching ds some gentle exercises to start working on. (She wants me to do them too, as she said we would both benefit.)

Not sure if anything will come of it, but at least it feels like someone is listening and understanding now.

Oh and we have finally got ds1's statement sorted out. Loads of stress, but much happier with it now.

Right, need to read the thread back now. Just scanned the last couple of posts and noticed THC's ds has been in hospital again. Hope everything is ok?

Moose, read the bit about your mum's issue with the collarbone and shuddered - surely that should be an indication that she needs to be seen by a specialist on the NHS? (said in hope
Hope your DS feels better quickly, always a shame when they are unwell and the weather is good. We have had precious little so far this year and seeing the sun is restorative in itself.
Why is it that OTs and physios seem to understand the difficulties far more than Drs and paediatricians? DS has just finished his first session of sensory integration - with another planned. The report that was written totally summed up DS's difficulties and how it currently affects him and how it might affect him in the future if it is not worked on. As you say, it feels so refreshing to hear a professional concur, far more edifying than the paediatrician saying that hypermobility is normal - hindered by dyspraxia, hindered by sensory issues.

Finally got round to reading the thread back, just, but have instantly forgotten most of what I've read. Sorry, I really get cross with my swiss-cheese brain sometimes.

THC, I hope ds is ok and hasn't had anymore scary episodes. You always sound so calm and in control, you're one helluva Mum.

Ds2 had his second physio appointment today. Feedback from the hypermobility bod was that it would be a tough fight to get him properly dx'd, despite meeting the criteria, but that it's up to us if we want to take it on. (No advice on how to pursue it if we do though. ) Physio felt it would be a fruitless fight, as he wouldn't be offered any more than the physio he's already referred for anyway.

I explained that whilst obviously the most important thing to me is to reduce his pain and improve his mobility, I felt that, knowing them, the school might not take things seriously enough without a proper dx. We discussed sensible precautions and actions the school should take and were in agreement about them. Then she suggested I ask the GP to write the school a letter, which is probably pointless, given that they've received the cons paed dx of 'lax ligaments'. The physio actually refers to him herself as having jhs, so I was a bit that she won't do a letter herself.

I asked her to check his feet to see how flat and overpronated they were and she said that surprisingly they're not too bad at all. She asked to see mine to compare and said his are nothing like as bad and she reckons we can improve them enough with exercise, rather than orthotics, as whilst I have no arch at all and a severe inward roll, he actually has a decent arch (so at least the paed got something right).

What she wants to focus on now is building up his strength and stabilising the joints to reduce his pain. We worked out a circuit of 12 exercises for him to do daily. He has to do each exercise twice, so roughly a 24 minute circuit. We start tomorrow and are back to see her again next week.

She also spent about 15 minutes trying to persuade me to buy a Wii. I explained that we can't have one, as ds1 has autism and is obsessed with computer games consoles, so it would be a source of constant arguments and dischord, but she was very insistent, saying it would be the best thing for ds2 in terms of indoor exercise. I'm not too impressed by that really, as it seemed a bit like, if they recommend the Wii fitness stuff, then it makes their job a lot easier, as they don't actually have to come up with an exercise plan themselves.

One of the good things is that the elements of my circuit training dvds that ds likes to do are ones that will, with a bit of adapting, work well for him. So that might actually encourage me to start exercising again and if I'm doing it with him, I won't be able to do my usual and push myself too hard, I'll have to ease into it very slowly.

Still ruminating on the appointment really. Feel a bit fobbed off, as basically we've just been told to improve ds's fitness and he will be fine. I kept explaining that the reason he hates sport is because he always ends up either injured or in pain and she just said that once he's fit that won't happen anymore. No advice for how to get him fit when he is in pain almost as soon as he starts to exercise (or in fact just by sitting or moving wrong). She just said to work out his tolerance and then go only half way there rather than pushing to his limits. That doesn't really help, as he can be in agony having just got up from a chair - how am I supposed to make him exercise then? No advice on what to do when his joints give out during exercise either. Surely we will have to stop as soon as his legs start to hurt (which is what she advised for PE at school) which kind of renders the whole thing impossible.

Moose I feel for you. DS1 was told by OT that he was only as good as he was due to the amount of sport that he played - and he is pretty poor at a lot of activities . So we have this going for us - DS likes sport and will give almost anything a go. He is chronically lazy though, and would do absolutely nothing given half the chance.
Have you given all sorts of sports a try? I only ask as DS loves golf at the moment. The pro that runs his lesson keeps speaking to him about posture, and how it would improve his game. So we 'devised' a new exercise plan to help his posture. This plan was some of the other exercises from his sensory diet that he doesn't like to do that I basically 'bull sh*d' were specifically to help his shoulder/neck and improve posture to help with his golf. God kids are gullible Fact is, they should help as they are for his core anyway.
Just thinking that there must be some 'sport' out there - even non-sports such as snooker/darts/bowling that could be used to introduce exercises that need to be done? They all involve quite stationary actions that could be helped by exercises seated/on a gym ball etc - same as a wobble board - you don't move as such, just balance, but helping the core, helps control the limbs ...

Hi auntevil, he actually likes circuit training, particularly the strength training bit, which is in his favour really, as long as we make sure he gets his form right and that's the tricky bit. We used to do the 30 day shred together - well I did the shred and he did a couple of each exercise before collapsing in a heap. He used to enjoy the kickboxing elements of one of my dvds as well.

He also enjoyed the few pilates lessons we did last summer.

He's seriously not into anything that involves running around, which could be down to his leg pain I suppose, but I suspect is more related to a distinct aversion to being energetic!

He does like the wobble board too, but we need a new one as the first one we had was too easy (my attempt at encouraging ds1 to work on his core).

hi all ,sorry not been on for a while ....still having smelling salts after seeing ds1 uniform list for september !!!

Have scaned quicly and really feeling for you all (xx) pretend you didn't see them !!

Wierd thing has happenend today ....Hospital ranng to offer genetic app on Thurs (which cant do) so got that 13 sept....AND GP phoned at 9.00 pm to acknowlege my phone call last wednesday in regards to comm pead app....

Wait for this ....they dont chase/follow up referals made from othrs peads back to them if "a parental nod is not put in their way " ////???

?ie if i had not chasesd up why an appt had not been given yet it would not have haappened .....

Am impressed he rang me at 9pm ...but words are now failing me !!!

bizzey - it kinds of proves the point about the squeaky wheel getting the oil. I hate the nagging factor, but you have to be constant (a constant thorn in their side) to get anywhere. Its very depressing as I'm sure in the ideal world, the professionals wouldn't want us to be like this too. Whoever put money into the equation, eh?!!

Quick update. GP has refused to request any genetic testing as paediatrician doesn't believe symptoms of hypermobility, IBS, developmental delays etc are related at all. Looks like I might be going private. Anyone know anywhere good in London?

Sorry, haven't been on for ages. My mum, dad and sister took DS1 and DS2 on a 4 day holiday to "give me a break" 2 weeks ago. DS2 is still recovering from the exhaustion. He's not lying on the sofa looking like a pathetic angel tired, he's screaming, regressing in his development and being a pain in the neck tired. I don't think the "break" was worth it tbh.

auntevil that's rubbish, even I know that all those symptoms are connected. Mind you, I've discovered that as a parent I know more about EDS than some dr's.

bizzey I've found that the parents who moan the most get the best results.

Auntevil, I'm on my phone so can't scroll too well - where are you exactly with diagnosis, and what exactly are you looking for now?

Prof Grahaeme is probably the "best" eds person in London, but I'm not sure where he stands on the other stuff being linked. I think he agrees about gastro stuff being connected, but thc is more likely to know as I think her ds has gastro issues, whereas my dd didn't especially so it wasn't important for me to remember ifswim.
If you already have an eds diagnosis, then there is probably someone else

You see, this is the problem midnight. We have lots of individual dx for all 3 of the DS. DS1 has dx of dyspraxia, hypermobility, IBS, SPD, food intolerances and has just been referred to physio for repeated sprains/tendon/ligament issues and other issues such as visual tracking etc. The other DSs have IBS, food intolerances, difficulties in swallowing (physical cause), soiling issues (referred to Evelina) and both have been advised by 2 separate sources (gastro paediatrician and OT) that it is highly likely after they examined them that they too are hypermobile.
General paed will do nothing as she doesn't believe any of the above are related.
I find it difficult to believe that all 3 miraculously have these commonalities, but none of it is genetic and that the gene pool kept bringing up the same genes each time.
My concern is that we're missing something that might prevent further treatment down the line.
I asked for DS1 to be checked with array CGH - cost to NHS £100 - refused.
How much do you think that referrals to GOSH (DS3) and Evelina (DS2), and repeated investigations to find out why they still have issues in regard to musculature which should have been resolved by their ages?
I think it annoys me even more when a friend who is a pharmacist, has to collect in medication from wards in hospitals that has not been kept in the proper conditions (refrigerated) - and the cost is £100s each day. He threw away £2000 of medication that was individually tailored as the patient didn't turn up - and they won't pay £100 for an investigation.
I would add that if I go privately - which looks like another option - the price does not start at £100 - more like £360 upwards. The £100 is a NHS negotiated price - as advised by a friend who is a consultant paediatrician. Same paediatrician who said that if DS1 were to be in his area, it would be one of the first tests he would do.
Sorry - long rant. I just see the NHS as being so short sighted and re-active. Why treat the symptoms and not find out the cause?

thc is having similar problems with there being other stuff and nothing is being looked at as a whole. She (as we) have been referred on to St Marys, but as of yet, I don't have any feedback as to how integrated Dr Ninis is (or can be, as she's NHS). thc might be able to help, as I think her DS was fast-tracked to Dr N, but she hasn't been able to update us here yet. But that was via a private appointment with Professor Grahaeme.

Have you looked on the hypermobility.org boards to see if there is anyone who is dealing with "mixed issues"? GOSH don't seem to be, the teen clinic at UCLH seems to (or at least they refer on to others, but keeping it within an EDS/hypermobility diagnosis).

I wonder though if it's not actually possible for one clinic/department to deal with all the different issues (which is why it's supposed to be coordinated through a paediatrician, as they are the ones who are supposed to take an overview), and there just aren't enough/any eg gastros with an interest in EDS. Plus stuff being linked is relatively new - I was mildly told off by DD1s rheumatologist when I asked if her nosebleeds were linked to her JHS (as was discussed further back in the thread, some doctors think yes, some think no), as "just because someone has lots of different symptoms of things, it doesn't mean they are connected" . Perhaps the research just isn't there yet, or hasn't filtered through to the front line. Which doesn't help those of us who are battling away.

Can you change paed to one who is more supportive? We've dumped DD2s paed as neither we nor the GP think he's helping at all, but the GP is prepared to refer on to whoever I ask him too. Otherwise a private appointment with Prof G would at least give you something in writing from a top specialist as ammunition against your current paed. It might be worth speaking to his secretary and asking his/her advice (anecdotally, the private secretaries have far more access to the specialists to "have a quick chat about a potential patient to see what we can do for them" than the NHS secretaries do ). I think he is around £300 for an initial appointment. Or Dr Ninis at St Marys (who has a lovely helpful secretary, but who is v busy), don't think she does private though, but if you were able to speak to the secretary, your GP might be able to refer...

Sorry for the length of this , it's partly a ramble and a brain dump as I think through the system. Pick out anything that's useful, ignore the rest .

thanks midnight
GP won't refer as PCT guidelines say that paediatrician has to do it.
Paediatrician is a second opinion as first paediatrician wanted CAHMS to sort out DS for his IBS symptoms as she believed it was all psychological (diarhoea - wtf!). So got re-referred to current paed who sent him to gastro - who in fairness is good, but often says that he cannot confirm/deny as it is out of his remit as a gastro.
Current plan is to get the array priced up, but Prof G could be a plan too. GOSH weren't interested in sibling history particularly and as he was the only one referred it went no further. I imagine Evelina will be the same, as only DS2 referred there.
It's a toughie as I can understand that no-one is specialised in all areas, but surely that also means that they should not be dismissive of a different discipline's ideas. So when my gastro says that IBS and hypermobility in his opinion are linked - and that IBS is a gastro issue, surely a general paediatrician shouldn't over rule and say 'no it isn't'?
Co-morbidity is also a very grey area. It is difficult with the dyspraxia to know where the tiredness in his joints come from. It's also difficult to know when he over reaches on his joints whether it is due to hypermobility or to inefficient planning of the movement due to dyspraxia. I can see that with motor skills, but surely intestinal movement is not so governed by motor skills? Surely it's mainly involuntary (with a little voluntary at each end )

hi all...I have just read back on last few threads....and cannot believe that all these "experts"...can have such different views and opinions !!!!!

As said earlier I have got Genetic app for 13th Sept which I will update you all on in case if gives you some ammo for your own fights !!

But I have to be honest and say I may have got the app as I/we also have the spastic paraplegia in the family as well... and they ?poss trying to rule out (Please God) or connect it together ?

BUT dont worry I will be asking loads....and I could "try and slip in" a few of your questions as well if you want / Ican ??

Yet another quick update.
I sent an e-mail to local genetic testing hospital to ask for private prices. My e-mail was just a brief one saying what each DS had dx and that so far paediatrician and GP had refused to refer.
First e-mail back was to let me know cost, £350 for the test, but also that it had been passed to the clinician team.
20 minutes later clinician e-mailed saying that they were surprised that I had not been referred as we met the criteria for referral that they give to the PCT areas which they cover, and which the cost to them is £0.
Yep, we are most definitely in their catchment PCT area.
Its the first time I have ever seen DH even mildly angry - probably as he is starting to realise that what I am asking for is not out of the realms of reality, not cost prohibitive, just clinician denied.
Thinking cap back on as to how to play this next.

Wow !!! What are you going to ??? I am not an expert on this but I think you need to involve PALS ??

Good on the Genetic hosp for being honest and not just try and take your money !

I am in shock !

auntevil DS2, DS3 and DH had the CGH microarray done last year. They tried to test me but after 10 stabs they couldn't get any blood. Then when I had a miscarriage in december they were going to try again to take my blood while I was under GA and try to do the CGH array on the baby too.

DS2's results came back normal. DS3's results came back with a duplication of a tiny bit of one of his chromasones which the geneticist said was a variation of normal (I think it was his ginger hair ). DH's results went into his notes and nobody thought it was a good idea to inform the GP or the geneticist what they were . Mine and the baby's never got done. After all that the geneticist said that EDS hypermobile type wouldn't come up on the microarray test anyway [bangs head against brick wall]. I know that sounds really pessimistic but I'm just saying with hindsight if I'd had to pay for it I wouldn't have the CGH done, I would rather pay to see someone like professor grahame or someone else who is an expert on eds/hypermobility.

I also have dyspraxia and hypermobility and I'm fairly clueless about which symptoms go with which condition as they are similar in a lot of ways.

LOL at the ginger hair ellie

Bizzey - I have put so many complaints through to PALS that they are going to think that I am a vexatious litigator! Although in fairness to me I have had apologies, meetings with managers and results that I wanted from all of them!

Current thought is keep plugging for NHS and private for consultant?
This is the thing, there may be something, there may be nothing, there maybe something like yours ellie - something but in the realms of normal.
We do know that DH has an extra arm on chromosome 9 - further than that we know nothing. No-one has ever said that this info is in any way important, but I do know that it is involved in the production of collagen - as are other chromosomes though.

I just feel that I have a serious lack of support and information from the very people that should be advising.

Paediatrician's advice - hypermobility - normal happens in 10% of the population. Dyspraxia, yes, exacerbates the hypermobility. Hypermobility and IBS are not genetically linked. Bye, see you if you get any further info that you want to discuss - otherwise I don't want to see you again.

GP - we defer to paediatrician.

Grrrrrrrrrr - you can probably hear me screaming from wherever you are