Possible hypermobility? Advice needed for speaking to GP please.

[moosemama]

Hi tis Moose here, not ds1 this time - ds2.

Basically, he has been having more and more instances of his ankles collapsing underneath him - often several times a day - and he's always covered in bruises because of falls. He also suffers from leg pains, which are worse if/when his ankles have 'gone'.

He has always been thought of as clumsy at school and when he was in Reception I used be called several times a day for a head injury report because he was constantly falling over. They used to say he tripped over his own feet, but now I think its more likely his ankles were giving way.

A couple of weeks ago he told me that he'd been showing his friends how he can bend his knees backwards and showed me what he'd been doing - I had no idea he could do that. I told him not to do it again, because it will make his leg pain and collapses worse and at that point decided to book a GP appointment - but as usual in my life, it went on the list and never made it to the top.

This morning he got up with bad pain in one leg. He couldn't put his foot to the floor and said his hip, knee and ankle hurt as did his thigh and lower leg. After questioning him a bit, it turns out his knees are now bending the wrong way on their own on a fairly regular basis and yesterday his knee went, then his ankle and hip gave out and he had a bad fall. (Of course he didn't think to tell me this yesterday. )

I assume the non-joint pain is from over stretching when his joints dislocate?

Just before school this morning he went up to put his book away upstairs and the ankle on his painful leg went out again. He came down really upset and didn't want to walk to school in case he fell. Dh took him and said he'd have a word with his teacher.

So, I called the GP first thing, to be told they have no appointments for a fortnight, but I can ring daily at 8.30 to see if there's any cancellations. She said I could call back after school and try for a triage appointment, but I don't think they'd see him, as there's not much they can do - is there?

I know very little (almost nothing) about hypermobility. I had initially - and wrongly - assumed he just had unstable ankles, but its definitely more than that.

What do you think - does all this sound like it adds up to hypermobility syndrome of some sort?

I obviously need to book an appointment to ask for referral, but where/who to and what do I need to say/ask?

If there anything we can do in the meantime to help him?

Any advice would be very greatfullly received.

Just thought, some background/history that might help:

I also have problems with my joints - mainly knees and hips and was under a paed for it as a child. Unfortunately, being the 70s, my Mum just let them get on with it and has no clue what I was being seen for.

Basically, my knees used to lock, my hips popped out (still do) and my feet roll quite dramatically inwards. I was given orthotics, but refused to wear them, as by the time I got them I was a teenager and didn't want to wear big clompy shoes. [stoopid vain teenager emoticon] I was also admitted for arthroscopy of some sort, where they were going to put a camera in my knee joint, but I lied and told them it wasn't painful or a locking anymore, because I was terrified of having the op. I think I must have been discharged at that point, because I don't remember ever seeing the paed again after that.

Both ds2 and I can bend our thumbs back to our forearms and our little fingers back to 90 degrees. Ds can bend all of his fingers right back.

I can also pop my shoulders in and out by accident if I'm not careful (even lying on my side in bed) and my left hip pops in and out if its socket when I am exercising.

Ds and I can both bend at the waist and put our foreheads on our knees and our hands flat on the floor in front of our feet.

My Mum's fingers are really bendy in all sorts of strange ways and she has always had hip and knee problems, as did her father. Apparently my great grandfather had a reputation for being super-bendy and 'double jointed'.

So it does seem we have at least some degree of hypermobility in the family.

Although my DS is not as hyper-mobile as your family we were seen for it.
GP will refer you to a consultant to get it formally diagnosed and to see how bad it is
We were lucky enough to go through DH's BUPa for this bit which sped things up.

The result for us was that it wasn't bad enough to need an operation (sometimes they do operate to try to tighten up the joints apparently) but they recommended physiotherapy.
The NHS children's physio we saw was fabulous and DS had exercises to do to strengthen his arms and shoulders 3x a day ( hell to get him to do them). They really did work and he can no longer voluntarily dislocate his shoulders. It took about 8 months to be discharged as he is now so much stronger.

Tell the GP what you have written here basically. Our GP manipulated DS's joints to confirm what I was saying then referred us.

moose, come over to the hypermobility EDS thread, there are lotys of us who can help.

Mid limb pain as it is called is a symptom of hypermobility, it is probably caused by the ligaments and muscles being overworked and over extended by the joint hypermobility, and getting very tired very quickly. It sounds to me like either Benign Joint Hypermobility Syndrome or Ehlers Danlos Syndrome. They are probably different ends of the same syndrome, and both terms can be used. Typically if you are more severely affected you are dx as having EDS. There are several types of EDS, some more erious than others, but there is one specific type called hypermobile type, it is the most common of the EDS dx. Joints dislocating, giving way, poor proprioception, falling, bumping into things, pain either acute or generalised achy pain are all symptoms of EDS/BJHS. Some people go down the gp referral to paed route, but both me and my ds, and others too have been dx by a Rheumatologist after referral by a GP. A rheumatologist deals with the joints, and some even specialise in connective tissue disorders/dieseases which these are. In the end it is a rheumatologist, rather than at geneticist or even a paed who has the most experience and expertise in this field, so if you can get there first then all the better.

BJHS and EDS have no blood test, but have to be dx through differential dx, which means ruling out other things like rheumatoid arthritis, xrays, clinical examination, and positive family history(which you clearly have). xrays and blood test should be normal. Two different scales called the Beighton scale and the Brighton scale can be used, they look at how far beyond normal ranges of movement certain joints can move, or hyperextend. A word of caution though, both scales only examine certian joints, and a sufferer does not have to be hypermobile in all joints, therefore it is possible to not score highly and still have eds/bjhs. Both my ds and I have significant hypermobility in major joints, and most of these are not covered by the scales, but we are both profoundly affected by eds, him more than me. If you want some links to look at the scales, or articels to read just let me know.

To add to what Alison has just written. Surgery was used a lot in the States a few years ago, as an "answer", unfortunately they discovered that after the wound has healed the connective tissues go back to being as hypermobile as they were before, and as slow healing and problems with anaesthesia are side effects of eds/bjhs surgery is almost never used anywhere in the world, but especially on children, unless a joint can not be manipulated back into place by anyother method. The condition is caused by overly elasticated collegen in the body, if you have it then your body continues to make the stetchy collegen no matter how much surgery you have. Physio, and making adaptations to life style and surrounding along with pain management are the only ways of improving hypermobile joints. There is a problem with finding physios who are knowledgeable enough to truely help, but if you do, as we have, they are a godsend and make a huge difference.

Thank you. Alison and Sparkle.

I have googled a bit - I know I probably shouldn't have.

Personally I don't think I'd score high enough on the Beighton scale for a dx - maximum I'd get is a 4 and one of those is questionable. I suppose another indicator for me would be that I have extremely soft skin and seem to get stretch marks easily? Its not overly stretchy though. Mind you I always thought my joints were normal until I met dh, who can't bend to anywhere near the extent I can and looked at me like when I showed him!

I think ds2 would score more highly but haven't done the tests with him, in case I hurt him or dislocate something.

He has a tendency to get exhausted very easily, especially after walking or running around, so I think that's another red flag.

Another thing I thought of was that he only stopped doing the one foot at a time up and downstairs thing at about the age of 6. I could always tell it was him on the stairs by the sound of him taking them one step at a time.

He gets what people used to call growing pains as well, generally at night and more often if he's been very active in the day. They seem to come in phases though, he doesn't have them all the time.

I suppose I'm hoping for some physio and/or orthotics for him. His ankles have been the biggest problem to date, he goes over on them several times a day and gets quite upset by it.

Ds1 has hypotonia, particularly in his core and upper body - could that be connected to all this?

From what I've read online, I don't think he/we have EDS. Neither of us are that badly affected.

I will go and have a look for the EDS/Hypermobility thread. I know I was given some advice about this a loong time ago, but with getting ds1 dxd, sorted, supported and statemented, poor ds2 ended up on the back list as usual. I feel awful about it now, because it wasn't really bothering him back them, but things seem to have got worse since. He has suddenly shot up in height, so I'm not sure if that's why he seems more badly affected recently.

I'm dreading him coming home this afternoon, because I promised I'd call the doctor if he went, but couldn't get him an appointment.

Right, will go and find the thread you recommended now.

Thanks again.

Moose i definitely think you should get this checked.

Dd3 has hypermobile joints and has had quite alot of physio. She used to fall all the time but now with the excersises and orthotics in her shoes she is loads better.

Agreeing that you definitely need to get this checked.

I've put up with intermittent pain and constant minor joint injuries for years and didn't get diagnosed until last year. Now my feet are knackered and I live in constant pain.

Ironically, I came to the conclusion this morning that we need to get DS1 referred, this morning. One of his knees locked up really badly, last summer and he's been complaining of knee pain again, today (then he went and fell over on the way to school). He doesn't normally complain of pain, so it must be pretty bad.

Thanks Ineed.

Just picked him up and he's not a happy boy. His ankle has been painful all day and he's had to sit out playtimes. He limped home on it though.

Called the GPs and asked to speak to the triage doc. Who has somehow managed to scrape up an appointment for him on Friday morning - much better than waiting two weeks. She advised us to take him to A&E to have it checked, but it doesn't seem bad enough to drag him down there. The achilles tendon is sore to the touch and he has some restricted movement but no bruising or swelling, so I have it raised at iced at the moment. I think its a mild sprain to be honest, so nothing A&E would do about it anyway.

Actually, ironic isn't the word i was after. More like co-incidental.

Cross posted with you ouryve.

Ds2 is the same - never one to complain really, so when he does I know I need to take him seriously. I feel awful, because he's obviously been struggling on without complaining for a while.

Dd (age 3) on the other hand, is desperately trying to convince me she also needs a teatowel full of frozen vegetables on her foot and special treatment.

Moose I hate to be the one to break it to you but hypotonia is soooo associated with eds and hypermobility. It is one of the things we focus on really heavily with my ds. If you ds has subluxed his ankle I would expect to see any external bruising, you would also expect all xrays to appear normal...in eds/hypermobility there is nothing wrong with the bones or joint construction but the connective tissues, which don't show up on xrays. "growing pains" are also associated with eds, as is midlimb pain. One of the reasons pain can come in certain periods is due to growth, I was only told very recently by the orthotist that bone grow faster than connective tissues, which she is explained is absolutely why ds gets more pain and more dislocations when he has a growth spurt...when I anecdotally referred to this to the rheumie, he looked at me like I was a nutty mother....but no the orthotist said the soft tissue does not keep up and so the hypermobile joints are more vulnerable during and after growth spurts as the "strength" aroung the joint is weaken further, until the growth spurt slows and the soft tissue catches up.

Hi Sparkle,

Thanks for all the info.

Ds hasn't been too bad today. Icing and raising his ankle helped a lot and he's been careful with it at school. I was pretty much 100% he hadn't done too much damage. There was no visible swelling or bruising. The main pain was around his achilles tendon and was much better this morning.

We have an appointment with the GP first thing tomorrow and as luck would have it, its with one of the better doctors, so hoping something will come of it.

Oh - got to go, sorry, will try and pop back later.

Sorry, chaotic evening and bad head meant I didn't make it back last night.

Been to see the GP this morning and came back feeling with both him and me.

He was really not that interested, asked if ds had had any serious accidents and if the school were aware. I explained that he has millions of bruises and cuts from falling but luckily hadn't had anything serious since he was in reception and had several head injuries. Of course he now uses his hands to save himself, so his head doesn't get quite such a bashing. This means that nothing gets logged at school, even if he reports it to a teacher or dinner lady.

He asked 'how' he falls and I explained that if he's walking and holding my hand, my arm suddely jerks and he's on the floor, so his ankles are actually giving way rather than tripping. He also regularly falls down the stairs, not when running, just walking and tells me that his ankles just gave out. He then asked if I felt he falls more than his peers - er ... well obviously otherwise why would I be here. I said definitely, then he asked if he falls most days and I said, several times a day, pretty much every day.

I told him about the family history and ds1's hypotonia and he seemed completely disinterested.

He asked if he can do funny things with any of his joints and I said he can bend his fingers back and his knees backwards but that I discourage him from doing it.

He had all of a five second look at ds's hands and ankles, without even removing his shoes and muttered something about 'hands seem a bit lax'. Then said, "right well we'll ask the people who know about this sort of thing, I'll refer him on, but his ankles seem ok to me".

I reckon we were in there for less than five minutes from start to finish.

I was so wrong-footed by his abrupt and dismissive attitude that I forgot to ask who he's referring ds to. Feel like a right idiot now, I'm usually far more in control that this with medical stuff, especially to do with the dcs.

Starting to wonder if they have a flashing red sign on my dcs notes that says 'neurotic mother' now. A bit unfair if I have been labelled, as nothing my dcs have ever been referred for has turned out to be wrong and ds2 hasn't even been to the GPs for about 18 months and that time he was really ill.

The gp sounds like he needs to work on his bedside manner! There are positives from this, he acknolwedged that your ds had a "lax" feeling in his hands, which means that they feel/look/are hypermobile, and he has said he will refer on. I would wait until the middle of next week, when he might have written the referral letter, and ring the surgery and ask the receptionist who your ds id being referred to...it should be on the notes by then, and you can just say you forgot to ask and dh wants to know. If the referral is to a paed, as it well might be, then you can ask the paed to refer you onto a rheumatologist, or who is the best in the pct to pick up a hypermobile child. The gp may already be referring to the right person.

I come out of every consulation with our rheumie thinking he thinks I am a pushy neurotic mother, I hate it, it upsets me and makes me angry, but I think it is because eds and hypermobility are not that well known, and drs can be so arrogant and dismissive. My gp said to me not that long ago, about orthopaedic surgeons, the thing is if they can crack you open and operate to fix the problem they really aren't that interested...I think that goes for eds too, as they can't actually cure it, some of them can't be bothered to help us manage it! Very, very frustrating.

Nevertheless, you made important progress today, you have a referral, you got the message about falls over, and even though he ignored the issue of "joints collasping under you" someone more knoweldge will understand the significance of this. Try to be a bit kinder on yourself.

Thanks Sparkle.

I'm praying its not a referral to the community paed, because he's a lovely man, but really just coasting to retirement and not very effective (ds1 is under him).

I have decided to speak to ds's teacher after school today and ask her if should could log how many falls he has. If she's ok with it, I'll write to confirm next week and perhaps attach a basic log-sheet that she can just fill in with him after lunches and playtimes - when he's most likely to fall. I was thinking just a table with the date and a line for which leg/joint it was and briefly what happened? Hoping this might get us taken a bit more seriously on the next stage. I think I'll also keep a similar log at home.

I will call next week and find out who he's being referred to as well.

Dh is annoying me now as well, as he's not that interested either. I went through similar with him about getting ds1 assessed. My gut instincts regarding the dcs and health etc do tend to end up being validated, yet he's still always slow to get on board and support me/us.

He does agree that ds2 falls over a lot and even commented on the way back from the doctors that he actually falls over far more often than dd, who's only 3 and that he agreed that he falls over significantly more often than his peers. Its me that has to deal with ds limping home from school every day and after resting he's usually walking better by the time dh comes home from work, so he doesn't see how regular a problem it s. I know he'll be supportive in the end (well as much as he ever is) I just hate having to do all this bit on my own every time.

Moose - I think a log is a very good idea. I am doing that at the moment for ds and neck pain specifically, but I might do it for everything. You never know maybe if I kept a detailed log it would help get the DA, I could send it as evidence....thought doubt they would read it.
If your ds is referred to the community paed, do you thin you could persuade him to refer on...you know get it off his desk, and onto a rheumatologists?

I can completely sympathise with dh's attitude, and having to take on the fights alone. Nearly hit dh with ds's medical folder the other day because of his don't care attitude

I'm a bit obsessive about keeping a papertrail and log of everything after everything we've been through to get ds1 dxd and supported. I know from experience that putting things in writing and keeping records means that the docs can't just ignore it.

As regards the comm paed. It really depends what mood he's in on the day. Sometimes he's really sympathetic willing to listen and happy to consider my requests, other days he's just in a hurry to get us out so he can get through his appointments. To be honest, if we do see him, I'm fully expecting him to get in a muddle, as ds1 and 2 look so alike, even their teachers get them confused sometimes. I'm hoping that if I mention my Mum's Rhuematoid Arthritis and replacement knee and hip (one done on each side, the others still to come) and my own history then he see sense and refer if nothing else, just to be on the safe side.

Half thinking he's most likely to refer to OT though, which will take a good 18 months and probably not be worth the wait. Ds1 was assessed as literally on the cut-off point for dyspraxia, as well as having several specific motor issues, yet we were told he wouldn't get any help due to short staffing and lack of funds. One point lower and he'd have been entitled to help - which made me just a bit suspicious . I have since spoken to two other parents locally whose dcs also scored exactly on the cut off.

Hmm it is those budgets again!

I have a good friend who is an OT, and she says there is nothing she could bring to the table to help ds, and her expertise is not enough to help, dx of refer on. She says, OT's are good and have their place, but they are not drs, and nor should they ever be treated like them.

Before your referral appointment, we can go through all the improtant things to mention, so we can steer the paed in the right direction if it comes to it !

I too have huge paper trail, which is a good job as the hospital have lost xrays, shown me the wrong xrays, changed their minds about dx of specific dislocations etc all the time....arghh

Thank you so much for all your help Sparkle. I shall definitely take you up on that chat about what to mention at the appointment.

We have been through the missing papers thing as well. First the school 'lost' all ds1's 'evidence' for statementing, every scrap of evidence of support from Reception through to year 3! Then the NHS lost my first brain MRI, so they couldn't do a like for like comparison with the new one and were unable to work out whether there were any new lesions! Hence my obsession with keeping copies and records of absolutely everything.

So familiar! My dad asked for an electronic copy of a liver scan (he had terminal liver cancer), the hospital made him pay £50, then 6 months later they found they had deleted the original and rang him up to ask for a copy of the copy. He did actually say, yes of course the fee will be £50, but they didn't see the funny side, so he just gave it to them with a pointed stare!!!!

I am glad I have been able to help a bit so far, and please do lets go through all you want to say before the appt, I really meant that offer.

Honestly, I understand that he NHS is a huge organisation and mistakes are bound to happen, but these things seem to happen just a little too often.

I also understand the need for an administration cost for some requests - but £50 for an electronic copy! Surely that would cost pence to produce.

It makes me so mad when all this stuff is about us and our bodies, yet we seem to have very few rights over it. I've been considering requesting a copy of my notes, but am worried doing that will make the red-flashing 'neurotic' sign even bigger and flashier!

Well, I spoke to his teacher, who said he can fill in a tick sheet after each break/playtime, but nothing that needs actually writing or takes longer than a couple of seconds. I was going to get into how I needed a bit more information about what happened each time, but she was pretty forceful and insisted it has to be quick and he has to do it himself. Going to mock up something with tick boxes along the lines of date, ankle, knee, injury and see how it goes. I wanted to have a box for them to write a few words to explain what happened if the need arises, but it doesn't seem like she's going to agree to that.

I think we'll have to handle it a bit like ds1's feelings diary and get him to bring it home every evening and talk me through what happened so I can fill in the blanks myself.

- I can not believe she was not more helpful than that, does she not understand that this has significance to his health....long term and short term. I am [shocked] by that attitude, and I say that as a mum and as a primary teacher.

She made it plain that she would only help, if it didn't put her out.

Its actually the first time I've had to deal with her, as she only started at the school in January. She's an NQT and to be honest I was expecting/hoping she would at least meet me halfway.

Ds1's teachers bend over backwards to support him, they fill in a feeling diary with him three times a day and discuss any issues arising from it and even spend their breaks and planning time helping him if he really needs it. This teacher can't even spare a couple of minutes a day to write a quick sentence that might help us sort out a painful health problem.

She asked how long they would have to do it for - "would a week be enough?".

I expect that kind of attitude from older teachers, somehow I feel doubly shocked that she is an NQT, you know I would go to the Head or the SENCo and ask for support over this, and ask them to explain to her that this is what inclusion and home school links means, and educating the whole child, all children and not just the "easy" ones. I think you need a minimum or 6 months worth of evidence myself! and