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.

Hi all I am back.......Interesting(ish) appointment...

Just a quick reminder though ...I have spastic paraplegia in my family....dad and younger brother so she was looking into that as well..

Yes more than likely mild EDS and H/M,.......but(as we already know !) no tests available only clinical assesment ..bla bla bla ... He has got it from me as she tested and checked me over as well.(really wish I had shaved my legs !!)

Possibility I could carry S/P gene but need to get bloods from DF and DB to compare but not yet as he is not showing all the symptoms of it.

Bloods were taken for chromosone checks. ...depending on results....my blood aand familywill be checked.

Forgot to ask her why she measured both our heads(but glad Iwashed my hair today !!)

Then at the end she took pictures of us both ..she says it helps her to remeber who is who on her case load...our faces and .......wait for it ..........

OUR EARS !!!!!!!

I did remember to ask why (and i did clean my ears today !!)

small ears and lobes (which we both have ) is indication/connected to EDS !!

Don't think we have mentioned this on here before ???

Right ...while you all go off to look at your ears I have got to go to a meeting at ds1 secondary school...I will pop back on later.

Brilliant post bizzey - LOL at shaving your legs - or rather not shaving your legs
Go on admit it - everybody checked their ears!
Yes, I have always had small ears and small lobes. The boys have too, but strangely, DH doesn't have particularly big ears either - and definitely not big lobes.
Am I right in thinking that your ears keep growing as you get older? (could be a myth)
Ninjathegoose has a DD with fragile X. She has recommended a geneticist at the local hospital and warned me that when you go for your appt. she really stares at all of you. Even though she knew why she was doing it, she said that even she felt uncomfortable (she thinks my DH will go into rude 'what are YOU looking at mode!)
Oh, and bizzey - did you find out why small ears/lobes could be connected?

First thing I did after reading bizzey's post was check my ears! I've always felt I had large ears, but I do have an attached lobe and of course both my ears have their own special skill. I can completely fold them up, as if there is no cartilege (sp?) in them. It totally freaks people out.

Had to laugh at the leg shaving comment as well. I'm slightly paranoid about that sort of thing, having been caught out a couple of times in the past. I make a habit of making sure I have had a full body work-up before every appointment these days - just in case!

moosemama - I think the same way about DS1, there is something odd about him. His co-ordination is awful and at 6 he is still has 3-5 toilet accidents a week. He is brilliant at reading, quite emotionally immature and he panics when there are changes to his routine. So far we have been told that he is slightly hypermobile but that's it. I can fold my ears too, thought everyone could. I tend to do it when I'm thinking like when people chew pencils, I never knew that wasn't normal!

bizzey - I've been caught out with furry legs a few times, I feel your pain. Not sure whether my ears are small or not, I may have to google average ear size

nev - so sorry to hear about your Dad.

What seating do your children have? DS2 needs something for the IT suite at school as the other children have high stools and he would fall off those. The OT has suggested a breezi chair but we had one at home that DS2 refused to sit in because it looked like a highchair. I suggested a panda chair but that is too much support.

On the ear thing - we all had to have our faces photographed at our Genetics appt with Prof Pope, plus bloods and later skin biopsies of DS were taken. The skin takes months to come back - we're still waiting for the last one and the samples were taken in Feb.
We have a large Breezi chair here at home, and he had a teezi-breezi at school. He was very reluctant to use it as it does look like a high chair, we've looked at others but its so difficult to know what is the right one as they all seem to have fors and againsts don't they?
My ds has a lipoma over his spina biffida occulta site which aches if too much pressure is put onto it, so the breezi is good for this, but looks uncomfortable if I'm honest!

Ellie, no-one else has ever been able to do it when I've asked. Some people have managed a little bend/fold, but not to collapse their entire ear, iyswim. I used to do it to help me get to sleep as a child.

Can't help with the seating. Our IT suite has gas-lift office chairs so he can have them whatever height he needs to keep his feet on the floor. He could probably do with some extra lumbar support, but he's only in there one lesson a week at the moment. In class he has an infant chair, rather than a junior one, so that his hips are at 90 degrees and his feet flat on the floor.

Cars we have tezzi chair but has side supports and a corner bit st the back that's more padded

Sorry catching up got back from conference and fell victim to man flu that turned into more /( but on the mend

On and ds3 has small ears and lobes to I checked

am intrigued, can you explain exactly how you can fold your ears - which bit are you putting where? DD2 has quite small ears, but not unusually so I woudln't have said.

DS1 can fold his ears too. Not sure about the younger 2

Basically, I can grab the pinna of my ears, fold them back on themselves and then into the earhole, where they stay until I either unfold them or do a little wiggle with my jaw which makes them pop out!

They honestly feel as if there is no cartilege (sp?) at all in them, but to look at you wouldn't know, as they look the same as everyone elses.

and a few others on YouTube. Although I can fold the bottom half of my ears as well as the top.

I'm quite disappointed that there are so many people on YouTube that can do it - I thought it was my party trick!

Now I really know my ears are small. The top bit is too short to fold down into the hole bit.
Is there really anything that you can't find examples of on YouTube - I'm guessing not! Thinking of putting DS1s ability of picking and eating his nasal contents without using fingers and only his tongue, on for a laugh - but there's probably tons of those too!

EARS..EARS ..EARS cant believe I could have started a 100 plus thread on ears !!!!!!

Fuzzey legs !!! is now my next password tor something ...brill

having shxt day so far so bear with me ....

I will do today first and get it over with as it is nothing to do with our thread and just need to (cry)and rant ...

My dad......legs are fked due to spastic paraplegia
hands/fingers are fked due to to rhumatoid artheritis
Now "brain" is has got "cognitive dementia" symtoms....

CT scan is next ,...they wouldnt do it unless they thought they needed it ??
(ie money)

I am kepping mum together and doing all the positives that we are getting help and stufff ....but it is still hard .

Change of subject ....ds has pyhsio this AM ...she wants physio to be done in school a well/part of his curriculum....and she questioned (politley)his body ...lack of it fat ....and i think I am going to ask for dietitian to help.

Oh boy....yet another referral for the munch....something ...something....(cant remember the word). what ever mother and daughter .....you know what I mean ,,and feeling !!!!

Bizzey, I feel for you with everything you have going on, and big hugs to you and your Dad. I miss my dad so much, but dont miss him being ill, if that makes sence at all?

Physio's need to understand that EDS traits make our children skinny - my boy looks so thin all the time, we've done Dietitan and the best she came up with was 'add double cream to his hot choc' and the stomach churning 'hot milk with marmite or bovril added'........ what centuary are these people from!
Now he snacks and has little and often as he can't stand the feeling of a full tummy - something to do with stretching of the stomach muscle and EDS I'm told, but hey, who knows!
I'm sure Indigo would tell me I'm making his condition worse as apparently I could 'cure' him with the right diet - sorry that really pissed me off this week - as if I haven't tried all that stuff before, and guess what - no different - if only all this was that easy eh?!!
Love and hugs and I wish I could make this time better for you xx

Bizzey, I'm sorry things are so hard at the moment.

Not sure if it will help, but I have been through all sorts of tests due to demential-like symptoms. Started with odd episodes that were initially suspected TIAs, but found not to be, then word finding problems, clumsiness, short-term memory issues etc. They are still not sure what it is, but it's not dementia. I have lots of lesions, which are causing the symptoms, but I'm doing fine almost two years since it all started. I go through periods of not being great, but am at my best when I keep myself as healthy as possible with diet, nutrition etc. There can be lots of reasons for dementia-like symptoms apparently, some of them very easy to treat. CTs are cheaper than MRIs so it's good that they didn't feel the need to jump straight in with a full MRI.

I'm another one who really misses her Dad, but doesn't miss his illness. It's so hard when you feel powerless to help. I will keep everything crossed for you and am sending big hugs as well. ((hugs))

Aunt, we've been through the dietician loop with ds1 as well and they were equally useless. Tried to tell me to give ds porridge, when it's in his notes that he is to be treated as coeliac. Saw her a few times, she said his diet was excellent, offered no advice and then discharged as she said there wasn't anything more she could do.

He is rake thin, not a scrap of fat on him anywhere and he hovers either just above or below the 2nd centile for weight depending on what's been going on for him. Paed doesn't seem to think this is an issue, despite the fact he was always between the 9th and 25th centiles when he was younger and only started to get this thin following illness when he was 4. He eats enormous meals, bigger than dh and he's a big eater and it doesn't matter what we do, he never gains any weight.

As for Indigo, I know what you mean but she means well and is passionate about her beliefs. She can come across a bit militant and er ... direct (for want of a better word) sometimes, but she doesn't mean to upset anyone.

Thank you for your kind messages .

Moose...what are lesions ?...They would have prefered an MRI but due to the fact that one iota of movement could ruin it and dad can sometimes have involentary spasms ,they are doing CT first and hopefully be given a "magic tablet !"

Interesting about the dietician....and skinnyness....ds does eat and depending on what it is ...eats the same as his brothers...depends what is on the menu !!! If it is something I know is he does not really like ,he gets a bit less(but he still has to eat it as I dont do different meals !) but on his favorite " easy meal day" of fish fingers/chips/beans/veg ..he has the same 3/4 ff(depends how many in packet) and in fact more beans than them as he would live off them if he could !!

And a nice bit of cake and custard to finish....before this he would have already had some fruit after scool and a nutri-grain fruity bar thing !!

I suppose I was hoping for dietician to give me some"body building" drinks/supplements for him
He is on the 2nd percentile for w and 9/25 p for height.

I think I will bring it up at another appointment so it can be on his notes just to get that bloody witch school nurse off my back who is convinced I dont feed my son properly !(ok a bit of paranoia/paramania setting in now !!!!) ... I might have to show her my shopping reciept that doesn't include the bottle of wine to show her all the good stuff I buy for them !!!

Community pead next week......confused what I am seeing her for now !!!! I am prsuming she is for the accademic side of things.......anyone seen one before ?

Bizzey, lesion is just the word they use to describe areas of damage seen on scans. They can be due to demyelenation (sp?) as in MS or vascular (as in ischemic attack TIA/Stroke) and in some cases severe migraine can cause them, in which case iirc they would also be vascular in type. Basically it's where a little spot of brain has been damaged and isn't working properly.

I have a working dx of MS, based on symptoms and pattern of lesions, but don't actually fufill the clinical criteria. My lesions are vascular in type, but MS in pattern . I have been trying to find out whether or not the vascular elements of EDS can cause vascular brain lesions (based on the Diana Driscoll stuff and the possibility of minor aneurysms) but haven't found anything definitive as yet. I have a neuro appointment this week though, so am intending to ask what she thinks.

Your ds is on exactly the same weight and height centiles as my ds1 and I keep being told he's not 'bad enough' for them to be concerned. He gained quite a bit of weight and grew in height in the first few months after he went gluten free, but then it slowed and dropped off again. He has regular episodes of cramping and diarrhoea though, often leading to him screaming in pain for hours. The Paed has no clue what it is, but at the same time has only done bloods and stool samples and refuses to refer to gastro. He has raised eosinophils (sign of allergic type inflammation) high vitamin B12 (very odd for a veggie child) and raised protein. I did google and scare myself when we first got the results, but the paed insists those results are not concerning, despite being obviously surprised by them.

He's come back off his school trip this week looking skeletal. I need to weigh him because it looks like he's dropped A LOT of weight in just 5 days. He has been doing lots of physical activity and I suppose they didn't know to compensate with bigger meals and lots of snacks.

Ds sees the community paed every few months - for monitoring. Basically we see him for 5 minutes, he says there are no major areas of concern and off we go. Complete waste of everyone's time, although to be fair it was him that kicked the assessment unit up the bottom when he realised the SALT element of ds's ASD assessment was never carried out (mind you, it was me that pointed out to him ).

A good comm paeds though would be able to assess the bigger picture and look for patterns and connections and refer on where appropriate. They are sort of general paediatricians, a bit like GPs but specifically for children and with a bit more clout.

Thank you moose for alll your help ...lots for me to think about..
Not sure if I want to or even could properly do a glutn free diet for him yet(unless I was told to obviously !)

I suppose it has to be an all or nothing situation....ie no little little lapses when i cant be arsedwhen he wants a bread stick !!

I have got this image now that the comm pead is going to be my "project manager" and hopefully draw all the outcomes and results together !.

OMG - Moose - nearly jumped out of my seat when you said high B12 levels. Our general paed also says nothing to worry about (as often the sign of an alcoholic too - which I'm guessing she didn't think applicable! ). I did have a Dr friend tell me that there can be anomalies on the day of testing and that also to his knowledge there isn't a hard and fast rule as to what levels in children are classed as specifically high.
But this is weird/coincidence. These figures were for DS3 who was at GOSH for failure to thrive - unlike the other 2 who - although underweight for height - are very tall. DS3 went from 95/98th centile at 18 months to under the 25th for weight and height by 3. His height has stabilised, his weight has not.
Initially I had been told by paed to make sure that I did not give him any artificially fortified food, but GOSH dietician put him straight back on - and surprise surprise, his growth started to maintain from this point.
He has been seen by the gastroenterologist - who confirmed lactose intolerance - and after elimination diet, confirmed gluten intolerant. This coincided pretty much with the re-introduction of fortified foods - so height maintenance could be also partially due to this.
What the lactose and gluten removal did do was cut back on the cramps and 'solidify' his poo to the point where he came out of nappies. He still soils, but now I get maybe 3-4 days a week where he does not, which is huge progress.
I must admit that I do get where Indigo is coming from. My boys have all been dx by a gastroenterologist, 2 lactose and gluten intolerant, 1 cows milk protein, fructose, sucrose and strict IBS diet. When we stray - which we do, and sometimes intentionally (birthday parties - etc) - I can tell the difference in behaviour, in level of pain and toilet wise. It makes me less likely to just say 'oh, ok then, just this once'. It is also something that you get used to over time. I was 'lucky' that the dx all came at different times. So I knew about lactose, took that out, then was told with 1 - all milk, so I just got my head around that when the fructose sucrose came in. Gluten removal was a year later, and I was already OK with dairy removal. It freaked me for a while, but I'm OK with now. TBH, the IBS diet is a nightmare - in a way the one that i struggle most with.
Huge post - sorry - just so excited (stupidly) that someone else had a high B12 result. [saddo emoticon]
Bizzey - sorry to hear about your dad. My dad died more than 30 years ago now, but my mum was my rock. When she was dx with alzheimers, they did a scan and it showed a few small bleeds, but they did not reckon that they made a huge difference. Mum was lucky and took donepezil (sp) and it meant that we had many years of still being able to go on holiday and girlie sessions. So if, and remember it still is an if, dementia is mentioned, there are medications that slow the progress noticeably. I wish you and your dad well xx

Bizzey

Sorry about your dad it's hard watching them get Ill.

There's a couple good gastroscope around that know more about eds and the effects one in London at st Barts works with Proffesor Azziz

But we're having issues here ds2 can't put in weight but is Luke a weed but am hoping his normal Gi team are going to do a referral to one of specialists we heard talk

But ideally I want ds3 under dietician we're having real problems getting him to actually eat enough as gets full very quickly and chewing is a problem to

Oh and was interesting how many he sees Dr Farmer that have eds but diagnosed with IBS infant often when he sees someone with IBS he looks to see if ate hyper mobile

THC Thank you for yor kind words about dad..

I think i will bring his weight up with comm pead tomorow and see what she/he says ......be interesting to have another view on it ....and I am now a bit more prepared to mention it ...

Other appointments have had so much else to put on his forms ...it sort of got put to one side.

Ds's paed recommended frying his foods, full fat milk (which he always had anyway) lots of cake, and five or more small meals a day....yes I know it is a nightmare with school time, but it really did make a huge difference with ds, he climbed off the 2nd percentile, which given height wise he is on the 75th to 91st!. His weight now sits around the 50th, so he is still very slim, but at least doesn't look like a skeleton.

Bizzey good luck tomorrow.

THC - how are you doing?

Ds struggling with shoulder and neck pain over last few days, must ring the psyc, it reminds me that he needs an appt, and he is a bit down at the moment.

Ds had his first swimming lesson yesterday. Hasn't had to try and hold himself up in the water yet, as they were holding onto the side for yesterday's lesson, but was in a lot of pain with his ankles afterwards and again this morning. Apparently they did lots of holding onto the side and kicking vigorously, so I assume he much have kept over extending the joint.

Tried googling for some standard advice re swimming and hypermobility, but drew a blank. Does anyone know of a good resource I can either print or refer them to?

I have never found anything specific for hypermobility and swimming. I had to write a specific risk assessment before ds went swimming, and then his teacher at the time had to go in the water with him, to give one to one within the class lesson. Now he has his TA with him in the water....he couldn't just join in, he needs to have ever exercise adapted to his joints.

Sounds like your ds needs some one to one support, or at least a method of signalling the teacher/instructor that he needs to stop an exercise if he has pain. He also needs to have his towel alongside the water, so if he has to get out he can be wrapped up in it to keep warm.

Thanks Sparkle.

I think I'd better prepare yet another letter for his teacher. I have to send one in anyway, as the physio suggested we send in a laminated sheet and 'box of tricks' for ds to do his own exercises during PE if what they're doing is too high impact or something that he knows aggravates his joints.

Going on my experience of ds1's Y4 swimming lessons, it will take half the year for them to suss him out and then he'll end up with 1:1 lessons anyway, but if I can expedite it then obviously that would be better.