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.

Oh moosemamma - that is just awful for him, and awful for you to watch. I would explain about what happened with the fall log, the teacher's refusal to help and the psychologiocal pressure this has out on your ds too! I think you should ask for a referral to a rheumatologist, preferrably one who has experience, or interest in children and connective tissue disorders, that route is the one which both I and my ds have experienced. Some pct's do do it differently though.

auntevil - some progress for you! That is fantastic well done. I really hope that they come back with good answers in a months time. I know you may not like all the answers, but to have a plan would be something.

THC - How are you doing, and is there any progress in dx of ds?

We have orthotics for fitting of the new lifts and arch supports this week. I am hoping they are going to help, as he is still getting so much pain in his feet, it is really wearing for him.

He keeps dislocating his fingers again, so I think this is going to be a bad few weeks for writing!

Can't believe he is going to be 9 on Wednesday...where does the time go?!

Don't know where the time goes sparkle but some days I wish I had more - and some days less .
I can't wait til it is the norm for DCs to use speech recognition software at school. It would put our DCs on a far more level playing field - particularly with handwriting/essays etc. Don't know about the rest of your DCs, but DS's vocal chords seem to be the last thing to be affected - and they never seem to tire

vocal chords are fine....volume control is a little dodgy...but speech clarity is dreadful at the moment, so voice recognition would just come out a series of consonants....

DS2 got offered a place at DS1's school on friday. I'm quite emotional about it all, keep thinking about the times when I thought I was going to miscarry him, I'm so proud of him for getting this far and a bit proud of me for not going insane in the last 4 years 9 months .

DS did a full day at preschool on thursday as a kind of experiment to see how he got on and because I wanted his first full day somewhere to be where the staff are more motherly if that makes sense. He managed the day without falling asleep so the staff were a bit "told you he'd be fine". He then spent most of friday on the sofa, then he walked a little bit on saturday but he couldn't manage all the way round tesco. He normally does really well at tesco because of the flat surfaces. He slept for 2 hours after that and then he was really clumsy and now has another scab on his face from when he lost his balance and hit the door of the computer cabinet. Sunday he was generally tired and whingy. Today he is ok but it's preschool tomorrow (morning only)and the cycle begins again. It's his birthday on friday so not sure if I should keep him off on thursday or just send him in the morning so that he can enjoy his birthday and be able to go to the park. Am hoping it will get better with time and I wish he wouldn't push himself at preschool and then flop at home or they will think I'm overprotective.

They should be aware that what they see is not full time every day, and therefore they can't make a judgement as to how much a full day has taken out of him. It is so frustrating, I have come up against this kind of attitude in ds' previous school. In his new school the Head got it straight away, and said things like bring him to the disco, even if it means he has to come in late the next day.... mind you she is one in a million. I don't think you are being over protective, you are being realistic and sensible. I would do a short day on thursday so he can enjoy his birthday. I would give them a clear message that says there were recupusions for his long day last week, and they might not see the affect if he is not going every day.

Congratulations on getting ds2 into the school. It is so special to watch them pass these milestones.

Sparkle - thanks for your very comprehensive list of Stuff To Remember To Tell Them at DDs appointment.

A further question - my manic googling over the past years has thrown up a few things which may or may not be related to EDS (i'm savvy enough to weed out the obviously rubbish websites ) but things like iritis/uveitis (an eye inflamation) and possibly PCOS, both of which are in the family. Should I mention them as part of the family history, or will they think I'm a loon who shouldn't be allowed on the internet (best case scenario) or an overprotective mother/Munchausens By Proxy (worst case scenario)? Or should I start with the list of major and minor symptoms and add people to those?

For example my mum had varicose veins dealt with years ago, and they've now come back - that sounds like it could be stretchy veins (which is where the PoTS comes in). Plus she was born with a dislocated hip which then got all arthritic-ey and has been since had a replacement - that counts as joint issues, no?

Also, everyone so far has checked if DD has had all her immunisations, which I've always taken to be just part of the Nanny State checking up that everyone is Doing What They're Told, but her dizzyness started not long after the second HPV (cervical cancer) vaccination - should i mention that specifically? I'm not an anti-vaccine person, and would rather she'd had it (and then been ill) than not had it, as it would be an extremely rare occurrence for that to have caused/triggered this IMO, so it's not as though I'd be trying to find Someone Else to blame.

Sorry for the brain dump , I'm worried there will be some vital piece of info that I don't give them, which will mean poor DD gets dumped back into the "we don't know what it is, but come back in three months (even though you won't get an appointment for at least six) and we'll get another locum doctor to have a look and not make any decisions" situation she's been in, which has caused a whole load of MH stuff . I'm worried she's getting her hopes up too much about what a diagnosis will actually do, as she does't have the obvious physical difficulties some of your DC have (which "they" can at least try to do something about - orthotics/physio/pain management eg), but a load of the "other" symptoms which are less easy to do anything about.

(I will be less doom and gloom before Wednesday, but I know you guys will at least take this all in the right way . Plus I know I need to review the clinic/medical staff for those of you who will need a teen clinic as your DC grow up ).

Thanks for listening .

Midnight - I am probably not the best judge of the balance between information and overprotective mum/munchausens by proxy On the whole I would include the information about each family member eg. maternal grandmother - born clicking hip, hip pain leading to replacement severe varicose veins, and relative x uvetis, POTs joint pain etc. I guess they will lead you as to whether they want certain info, and you can always pre-empt any negativity on their part by a bit of ego stroking...."I am not sure what is relevant Mr/Mrs? so I have included everything even if it doesn't seem relevant...."

I think the HPV vaccine timing with the POTs is probably a coincidence....I developed mine, (which later either became or was redx as neurally mediated hypotension) at around about 11 or 12, it coincided with my periods which started at 10 really taking off iyswim....I am also not sure that a vaccine could change blood presssure etc....but the human body is largely a mystery to me Having said all of that, I wouldn't be afraid to ask the specific question if it concerns you.

I know I have gone to appts with info I want to share and got flustered or sidetracked by their agenda...so write it all down, and tick it off...don't leave the consulting room until you are sure, even if that means saying you need to check your notes to make sure you have covered everything.....you can see why my and ds' doctors love me!

I appreciate you investigating into what is there to support teens....ds is 9 tomorrow!!!!!!!! The years are galloping away from me.

Jsut back from ds2's appointment.

Paed was actually very good, very approachable, brilliant with the dcs and for once I actually felt listened to and taken seriously. He also seemed to know his stuff, which was a relief for a Comm Paed with specialities/research interests in a completely different area. I was so nervous going as well, after how dismissive the GP was, saying he didn't think ds's joints were that lax.

He had ds do a variety of different walks and movements, then did a table examination.

All leg ligaments are very loose, with his knees and ankles being particularly unstable. Also tested upper body and found wrists, fingers and thumbs to be very lax. (So what basically what I thought.)

Ds was then sent off for a wide array of xrays, although he said everything from the examination indicated that there probably isn't a bone problem, but he wants to rule it out.

Next step is to have his xrays and manipulation results looked at by a Paed Rheum and then they will have us back for the results. In the meantime we have a referral to physio, but no clues as to how long that will take to come in.

Advice in the meantime is to limit excessive weight bearing exercise, but try to build up non-weight bearing, so swimming and cycling basically.

It was a very interesting appointment, as more and more pennies dropped about my own leg problems, which were much worse as a child and then how that links back to my mum's leg/bone problems, that she's also had since she wasa child. (I did make sure he was made aware of the history.)

So, it's a case of waiting for the results and what they are going to do next now.

Just wanted to come back and thank Sparkle for all the advice and support she's given me on this. I really appreciate it and am sure I'll be back for more once we get his results back.

moosemama - sounds like a really positive appointment, and that things are moving along. Nerr to the GP (pulls appropriate expression with face) - sometimes I think that they forget that the G in GP is for general and not expert
I think with a lot of processes along the way to any dx, its to rule things out rather than to rule things in, so thats good re the x-rays.
How is your DS with swimming/cycling? Am I being a numpty thinking that your DS has dyspraxia?

"Nerr to the GP (pulls appropriate expression with face) - sometimes I think that they forget that the G in GP is for general and not expert biscuit" fantastic quote for future use.....and soooooo true!

Moosemama, you are very welcome. I am so pleased it has been positive and the paed was good. The xrays will almost certainly show nothing at all, as is usually the way with eds/hypermobility....the joints are formed completely normally, but it is really important for them to build up the picture, and is also useful in terms of identifying any damage in the future...although hopefully there will be none. Well done for remembering everything and getting it across to the paed...that in itself is no mean feat! Swimming is the best way to go probably, so supportive for the joints and fun for the dc.

auntevil - my ds has the physical dsypraxic tendencies as a result of his eds....if there is a flat surface he can fall over, or an open doorway he can bump into.....he can do it everytime Swimming and cycling are rather an aspiration rather than an actual event in the sparkle household...

I have been very reckless though and allowed dh to buy the dc a trampoline..... we are not lacking in space so it is huge, and I have to keep myself very busy when ds is on it and just watch him out of the corner of my eye So good for his core muscle strength......of course it has huge protective pads around it, and the most robust safety net cagey thing you can imagine.

Thanks auntevil.

Ds1 scored on the cut off for dyspraxia, ds2 has never been tested. I think he has traits/tendencies towards dyspraxia, but isn't as bad as ds1, so have never pushed for an OT assessment, as ds1 didn't get any help.

He doesn't like swimming unfortunately, but we already had a plan in place to get him swimming by the end of the summer hols this year, as he had school swimming next year and mum has just offered to fund 1:1 swimming lessons.

The last two bicycles he's had have been a waste of money, because he barely used them and flatly refused when we tried to encourage him, so we didn't buy another when he outgrew the last. He isn't at all confident and is still on stabilisers (he was 8 last week) which is a bit of a problem, as the garden is no good for cycling and he won't be seen outside of the garden with stabilsers on, in case someone from school sees him - so catch 22 really. Am going to check out ebay to see if I can get a second hand bike for him and then I suppose we will have to try and think of some out of the way places to take him to practise.

I'm feeling pretty guilty about it all at the moment, as having watch dd develop her co-ordination and balance skills and be able to ride a two wheeler with stabilisers at two and a half, I've realised just how bad things are for both boys. With ds1 (pfb) I didn't even think about the fact he should potentially have been riding a bike sooner, he didn't seem interested to we didn't push him and with ds2 I only had ds1 for a frame of reference, so was still none the wiser. Feel like a crap mum about it actually.

sparkle you saying about the trampoline made me have a laugh about the number of what would normally be considered impossible accidents that my DS has managed to have.
DS1 has managed to break his ankle when trampolining by somehow managing to catch his foot under the protective cover over the springs at the edge and letting just 1 leg fall right through the springs to bang on the ground - a kind of you've been framed moment.
The funniest had to be when we went to sit down at the cinema. The DSs ran off as I carried the obligatory popcorn. By the time I got to the right row, some man in the row behind was trying to lift DS up (he's a very big 9 ). Turns out that as he was walking along, his foot had knocked a seat down, and then had closed back up again - trapping his foot . We had to take his boot off first, then move the seat down to get his foot out, then put his boot back on. Now, I'm hypermobile, but even I couldn't have managed to walk in such a way as to achieve that
I can sometimes relate to that very old term of 'clumsy child syndrome' - he even has a target on his OT report, to bump into people 50 % less! swimming and cycling an aspiration here too

auntevil - it all sounds so familiar!

moosemama - my ds who will be nine tomorrow can only ride a bike with stabilisers. Dd1 who is 6 can ride without them, but is happy to have them on tio make ds feel better. It is only since xmas this year that ds can swim with aids on his back, after weeks of one to one support to build his core strength, and having his TA in the water with him, so basically one to one lessons. For ds core strength was the key, he just would fold like a soggy book....lead swimming trunks we used to call it. Physio and hydrotherapy have made all the difference, that and 1-1 support in the water. Stop feeling guilty.... when their strength is good enough he will be able to do these things, he isn't there yet, but he will be.

Thanks Sparkle. I suppose guilt is pretty much default setting for mums really, there's always something to feel guilty about.

Ds1 had a whole year of 1:1 swimming instruction and still needed whole body floatation support at the end of it. They got him through his shortest distance certificate (forget which one that is) whilst supported with armbands, a float and two noodles (so basically full body support) and he was so proud of himself, as were we, especially as he really struggled with water on his face, splashing and pool echo etc.

We tried him with 1:1 pilates, but the teacher couldn't get him to hold a position long enough for him to benefit and that was if she could get him into the position in the first place. We used to say it was like trying to arrange spaghetti, because he would literally just flop and wobble into a heap. Unfortunately, we couldn't afford to pay for enough 1:1 lessons long-term for him to benefit. He has hypotonia in the whole of his upper body, but its particularly bad in his core, although he has definitely improved this year, partly through using a wobble board and low trampoline, but I think also as a result of generally starting to be more interested in sport/exercise.

I should definitely try to do more at home with them. Ds2 likes to do my core exercises and the punching elements of kick boxing with me when I'm doing my circuit training and his core is not too bad, but obviously most of the other exercises are a no-no for him at the moment.

We are off to the new Legoland hotel soon and both boys want to go in the splash-play pool there, so I'm hoping this will spark an interest in swimming for ds2.

Happy Birthday MiniSparkle for tomorrow!

Does anybody have any advice on dealing with severe cramp?

Ds2 just fell to the floor screaming the place down again because his calf and foot cramped up so badly. The Paed said massage and hot water bottles for night pain, which is pretty much what we do anyway, but we haven't been able to do anything to help these sudden major cramps he gets and it's heartbreaking to hear him scream like that. (Not to mention the neighbours must think we are killing him.)

Ds used to suffer from them terribly too. I never tried massage becuase it just hurt him more, we just did the traditional stretching of the muscle, by going on tiptoes and pushing against it, or just pushing against his toes and foot when he was lying down screaming about it. Ds did grow out of it though....if that is any extra help.

Thanks again Sparkle. Sounds like we are already doing the right things. We get him to push against it, flex his toes back etc and massage once it's started to loosen. He knows the drill and does it all himself now, but is screaming in pain the whole time. I hate cramps, they are so blooming painful, yet people don't get how much unless they've had them themselves.

He's had these cramps since he was tiny, in fact too young to tell us why he was screaming, but seems to go through periods when they're much worse - like now.

I wondered about getting him some of those microwaveable boots/slippers to see if that helps with night cramps. Even if it doesn't actually help in real terms, he finds a hot water bottle comforting, so I thought they might be a way of keeping his feet warm and relaxed without having to make sure they stay in contact with the heat source, iyswim.

I really hope he grows out of it like your ds has.

midnight People with munchausens by poxy tend to get excited in hospitals rather than the anxious/stressed look which most other people have. I have never been labelled as munchausens as whenever one of mine get admitted I'm constantly asking when we can go home. I do end up with professionals thinking I'm depressed/too anxious though so you can't win. I saw from another thread that you went to college/uni in northampton. When were you there? DH and I were there 2001-2004 and dh proposed in a restaurant called old orleans while we were there.

sparkle happy birthday to your ds. DS2 is going to do 1/2 a day tomorrow at preschool. I had a word with the preschool supervisor and she said that she has arthritis so she understands how he will be after a day of pushing himself.

moosemama try not to feel guilty. If you're anywhere near somerset we have a big concrete area where your ds could practise riding his bike without being seen.

moosemama if the cramps get to bad you can ask about baclofen .I tae it and helps with spasms also Banana try eati9ng one as the pottasum in them can help

Dd has only just got the hang of bike riding last few month

Sparkle happy birthdya to your ds .

midnight I get worried about what others will think .So in a way am grateful that he was unwell outof the bue in front of medical proffesionals so not all me saying !!

Ds3 is not to do any mor ephysio till we have some idea of whats going on
on the bright side he has been accepted onto a study where they will be looking at his chromsomes see if anything on them

Happy Birthday to Sparkle's ds.

Ellie, thank you. Unfortunately we are a long way from Somerset.

TheHumanCatapult, I will bear that in mind thank you. Banana are a good idea, don't know why I didn't think of that, I used to have a banana and a glass of milk when I got cramps while I was pregnant. Banana, a glass of milk and a dose of floradix before bed used to really help with restless legs as well.

I hope youre ds is OK, it sounds like you've been through such a frightening time with him. Hope they manage to get some answers really soon.

I have had a bit of a revelation overnight. Discussing things with my family, we remembered that at my Dad's funeral a few years back, we were told that a lot of people on his side of the family had been dxd with a genetic condition and that it's something we should look into, particularly for our dcs as its something that isn't obvious, but can affect the heart. We hadn't heard of whatever they said it was at the time, and what with the circumstances/funeral etc, I forgot about it, until now. I'm not in contact with that side of the family, but my sister has been building a relationship with quite a few of them and is in constant contact via the web (they're not in this country). Thinking back, I know of more than one of them that had uterine ruptures when pregnant, two of them being my second cousins and that got me thinking, I wonder if the genetic condition was EDS? Dsis is going to email them and ask. Probably a good idea to find out more about it, whatever it is, really.

yep we have been informed by Drs that people with aconnective tissue disoder should have their heart checked at least one and ideally at least every 5 years !!Ds has had his but none of rest been checked

Oh and not sure who was aking about eyes ut yes eyes can be affected ds3 are he is at risk of detached retinas and eye hemmorages

I noticed on something I was reading last night that there can be problems with the sclera of the eye.

Ds1 was under the eye clinic for years with various things, initially being referred for repeated chalazion. They discovered he had pitting to the sclera of his eye, for which they could offer no explanation - no-one had any clue as to what caused it, but his slcera basically resembled the surface of a golf ball. Then all of a sudden it seemed to resolve itself and they announced it must have been viral. I'm wondering now if it's all connected.

I wouldn't be at all surprised if it is all connected, eye wise and genetic family history moosemama.....Does very much sound like it could be eds doesn;t it.

Incidentally, I have my heart scanned and ecg every 2 years, as prescribed by my rheumie.

I am sure that ds' notes make many comments about his pushy mother.....especially about me being unhappy with their answers to my questions. I can grin about it on here, but actually I find it quite upsetting.