Here some suggested organisations that offer expert advice on SN.

EDS Hypermobility 3

(826 Posts)
elliejjtiny Mon 11-Jun-12 23:12:28

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 grin.

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.

amy175 Tue 04-Dec-12 21:12:56

been to see Dr N today, what a lovely lady. really listened and came up with some interesting ideas. She diagnosed POTS for my daughter. we are going to see Prof G in feb and see a physio from STj and StE hospital at the same time. Hope its not too expensive lol. We have had to do all this privately just to get help. Dr N was certainly worth it.

glad you got somewhere amy - Dr N is lovely, really explains stuff (unlike other doctors who get sniffy about "you can't make everything that's wrong be EDS"). POTSs in an 8yo is pretty rare I think (even more rare than it is anyway, I mean) - does your DD faint?

DD2 is back up to fainting a couple of times a day, plus feeling dreadfully dizzy all the time, so that, plus not sleeping, is making things "interesting" at home as ever minor thing becomes a big drama. Hopefully we can have a proper look at a change of medication next week, as currently it's not working.

But it's mainly the stresses involved with being at school (trains, timetables, crowds of shouty teenagers, brain fog so forgetting stuff, dizziness so not able to concentrate), so DD is worried that Dr N will dismiss it as psychogenic fainting, and tell her she needs to look at dealing with the cause of the stress rather than treating the symptoms - she was keen not to "over-medicate" which is fair enough, but we'll be armed with a list of how often she's fainting, plus how much time she has off school because she can't physically get up in the morning (she buzzes for a few days, then crashes). So fingers crossed she re-looks at that.

Ineedpigsinblankets Thu 06-Dec-12 16:07:42

I am just bumping the thread for someone who was asking about EDS on the behaviour and development threadsmile

4oclockwakeup Thu 06-Dec-12 20:47:51

Thanks Ineedpigsinblankets

What I am after some clarity on how Ehlers Danlos syndrome is diagnosed.

My DD is 4 and has been diagnosed with hypermobility and hypotonia for a couple of years now. She also has a heart murmur and now it looks like she is developing some eye problems (her eyes have gone crossed/wandering/poor focus) it may be she needs glasses but waiting for they eye doc to see her - so naturally I was wondering if this too is part of a bigger picture.

Anyway my question really is what is the difference between 'just' having hypermobility and low muscle tone and having EDS. How is EDS diagnosed and by what kind of doctor?

auntevil Sun 09-Dec-12 12:31:44

Been AWOL - sorry. Wretched costumes for Christmas plays! (wipes sleep out of eyes and re-opens them with matchsticks)
4oclockwakeup - hopefully someone will be on soon that can help with the dx side of EDs. We are still in the figuring out side ourselves. Lots of markers (hypermobility, low tone, IBS etc) - but also with conflicted dx dyspraxia etc which could be masking other symptoms iyswim.
Update is DS1 soon to be taken off list for OT and physio - as he has made good progress. The OT even said that this is ridiculous as this is now procedure. If 'treatment' is successful, you go off the list. She expects me to self refer again, like last time, so that he can get further treatment.
DS2 is now taking up the slack with the 'trying to find out what it is' cause. He is at Evelina. They are going to do studies on internal musculature - from digestion down, to see if this is where his problems lie. They will liaise with St George's re genetic testing, for which DS3 has been referred to.
Add all this to eye hospital, dietician, weight checks and having to work and run a family - i'd better be on you know whose "good girl" list!!

Ineedpigsinblankets Sun 09-Dec-12 12:45:44

auntevil, we have that system where I live, as soon as Dd3 had mastered her exercises she was discharged by physio.

She never got any OT because apparently the 16th percntile for motor skills is too good for treatmenthmm

She has a diagnosis of hypermobility but we have never been given any advice really apart from a leaflet.

auntevil Sun 09-Dec-12 16:59:44

You got a leaflet? Wow, you must be in a PCT that has money to burn grin
DS1 scored 9/9 on Beighton - and we were told 'yeah, he's hypermobile, but I guess you knew that' - and that was it!!

saw Dr N yesterday (at the end of a very busy clinic, so there wasn't time to go through all my list of points sad). But, she's just back from visiting the Mayo Clinic in the states where they are doing loads of work on teenagers with POTS, and is really quite excited about it all grin.

DD now has a programme of exercises to do before getting up in the morning, needs to work up to 30 minutes of hot and sweaty upright exercise every day (hello Wii) and has started on a very small dose of betablockers which will reduce the heart racing, and help tighten up her veins (to stop the blood pooling in her feet, or at least minimise it). That, plus making sure she does actually drink at least 2 litres of water a day, sports drinks before exercise, and first thing in the morning) and as much salt as she can physically bear on everything she eats (that one is going to be hard), should stop the permanent dizziness, adn cut down on the number of faints.

She was Not Impressed with the physio's letter, and has recommended we see the physios at her private clinic (which I'm not especially happy about, tbh, as we're seeing her via the NHS, surely she should be looking at NHS options for us?), but I do agree that at least they will know exactly what they're doing, and can advise DD exactly, rather than just getting general hypermobility physio advice. Just have to find the £160 per appointment sad, but she thought we'd only need two appointments, and then someone local can follow up the plan they sort out.

DD is waverign between it being a good appopintment (because she likes Dr N and trusts her) and being cross that she now has to do a lot more exercise every day, AND be organised with bottles of water and salty snacks, as she's lot quite lazy about that grin.

elliejjtiny Thu 13-Dec-12 18:20:52

4oclock My DS2 was diagnosed with low tone at 3 months and hypermobility at somewhere between 6 months and a year. EDS was first mentioned when he was 2.5 but no official diagnosis yet and he is 4.5 now.

Sorry I haven't been around much just lately. School tried to increase ds2's hours which has been a bit of a disaster (I could hear him screaming with overtiredness before I saw him the last 3 pick ups). The SENCO witnessed one of his screaming fits today so we are now doing whatever hours I decide next week! The teacher also decided not to take the wheelchair on the school trip yesterday, apparantly because DS2 didn't want to take it. Had to explain that the wheelchair is like maths, sometimes he doesn't want to but it's necessary. He didn't have to walk far and on a good day he could do it without any effects but yesterday was not a good day.

CuddlyBlanket Thu 13-Dec-12 19:36:40

Hi, I read a few pages of the thread and found your posts insightfull.

My DD 14 and DD13 had a consultation yesterday with Professor Grahame. They have been waiting to see Dr Ninnis, so instead of GOSH he has referred the children on to her for further care.

He didn't give a diagnosis so I await his report.

Hope you've all had a lovely Christmas - we've had the past two days at both sets of inlaws (PIL divorced and each remarried), and are now settled in for a few days at home uninterrupted by relatives which will be lovely. Wine, crisps and TV grin.

DD has only fainted once since she stared the new regime (and that was only because DH accidentally flicked chilli peanut coating into her eye, so perfectly understandable), and she thinks she's not feeling so dizzy. We'll see how it goes a few weeks into term though, as school is hard, whereas at home, if she finds it all getting too much she can have a bath/hide in her room/bake cakes. (we prefer the cake option wink).

But all the best for everyone in 2013, may you get the diagnoses/treatment/doctors who listen and understand you all need smile.

(and plenty of wine which god knows is vital wink)

sazale Thu 27-Dec-12 00:08:31

Hi everyone

I was wondering at which point is EDS investigated rather than hypermobility?

I'm asking as I have 2 children with confirmed hypermobility, 1 sister and a neice (not the daughter of the sister with HMS) with confirmed hms. I also now know that my kids got it from me, I got it from my Mum and all my 3 sisters are hypermobile. We also suspect that my son (but he has no pain) and my 2 other nieces are. So basically all my Mothers children and all their children. Should we be pushing for testing for EDS?

Thanks

auntevil Thu 27-Dec-12 10:58:08

Midnight wine is medicinal - I think perhaps we should start a MN campaign to have it prescribed on the NHS grin . There is truly no emoticon to describe the clenching I felt when you said that your DD had chilli peanut coating flicked into her eye - poor soul.
sazale I don't know tbh. We are still in the dx and what the hell is going on phase atm.
DS3 waiting for genetic testing. DS2 is having viability study into intestinal muscles next week - although they are looking into muscular dystrophy angle as opposed to DS3.
DS1 seems to be getting ditched off just about every list possible - apparently it is our PCTs policy. If you are in the 'system', you can re-refer personally at any point and be accepted. Their opinion is atm, they have done as many programmes and treatments as they can to help him as he is now. Just seems a bit weird that when you have a lifelong condition, that you have to instigate help rather than the other way around. How am I meant to know what else could help him and at what point I should ask for it? I assume it's cost effective. Some people may not ask for a long time.
Upshot of all this means that his IEP at school is shot to pieces. 2 of the 3 points are from physio and OT. That will be the next battle for next term - how are school going to continue the work! - this is in addition to what we do at home, I'm not expecting school to do it all. DS is at school from 8 to 3.30 and it takes up the majority of his useful waking hours.
A very merry christmas to you all.

in our experience sazale it depends on the doctor/specialist you get to see. DD2 saw Prof Grahame who is of the "EDS and JHS are the same thing" school of thought, so has EDS; DD1 saw a different doctor who diagnosed JHS and wouldn't countenance it possibly being EDS. But, both of them are getting (or in DD1s case, about to get) treatment for their particular symptoms, so the actual name of what they have is irrelevant to us.

Prof G told me (with regard to DD3 who is very bendy, but doesn't have any problems with it) that hypermobility become EDS/JHS when it causes problems. I score enough points on the Brighton scale to qualify (my mum even more so), but just mentioning that there's the possibility I have EDS when discussing other stuff (I've been investigated recently for lung disease, which has now moved back to possibly asthma, and have exceptionally good lung capacity which is explained by EDS, but doesn't affect how i'm to be treated ifswim) has all been put in my notes, and will be a consideration in the future. But we don't consider there's any need at present to get an actual diagnosis, as it doesn't cause me any problems (no joint pain, heart is fine, no PoTS etc)

However, if you think that it's a different type of EDS, then it may be sensible to push for a diagnosis, as some of them can cause more issues, and it's probably better to know than not to know.

grin at wine on the NHS - I had to pay for a peak flow meter as the hospital consultant wouldn't give me one, I doubt there's enough spare cash to fund all our wine needswink.

auntevil Thu 27-Dec-12 11:51:11

A friend is a pharmacist at a hospital. Sometimes they make drugs specifically for 1 patient who is attending that day and has a short shelf life. These drugs can cost £1000s and sometimes the patient fails - for whatever reason - to turn up. Just think how many wine you could administer with that. You could even buy the odd peak flow meters grin
Very interesting what you say about lung capacity. It was only commented on this Christmas in regard to balloon blowing blush at how great my capacity must be.
Can I ask at what point in any dx that they check whether hypermobility affects any internal organs, such as the heart? This is my biggest fear for my DCs. The physical/external manifestations of hypermobility seem to be acknowledged, but who/how do you check what is going on internally? The IBS and its ramifications are physical, and all 3 are still being assessed for that. What if it's not just the intestinal/digestive muscles that are affected - how would I go about getting that assessed?

CuddlyBlanket Sun 30-Dec-12 01:14:27

I got the report back from Prof G.

Dd1 has EDSH, significant fatigue, orthostatic intolerance, she may be aproaching secondary chronic pain syndrome, GI tract and autonomic nervous system.

Dd2 has HMS, orthostatic intolerance, palpitation, paper thin scaring and a tendancy to anxiety.

I am not sure why one has HMS and the other EDSH confused?

Regardless they are both seeing an OT, physio and Dr Ninnis at some point.

sazale Sun 30-Dec-12 18:37:48

Thanks for the info everyone. It feels like no professionals are interested in supporting my children with their difficulties and school are next to useless!

My DS 5 is significantly affected by his hypermobility in his hands and is finding it so difficult to learn to write. It's starting to really stress him out as he's becoming more aware of his difficulties. School aren't even providing the basics for him (the right pen grip and a felt tip)! It doesn't even cost much!

auntevil Tue 08-Jan-13 17:29:31

sazale - what do OT say? Can they go into school and 'teach' the staff what to do to help? While they're there, give the school a list of equipment to help - and for them to buy!
Just posted on chromosome thread, but we've got our first genetic appt. next week. Any advice on what info I need to take?

sazale Tue 08-Jan-13 23:03:45

The OT hasn't even done any standardised testing or checked his shoulder stability, core tone etc. just said he has the most hypermobile hands she's seen in 15 years of being an OT, asked school to do jump ahead program, use ICT equipment and that they may want to involve EP due to his very complex learning profile. He's now discharged! No visit to school or anything!

I got him a rheumatology app at Sheffield Childrens Hospital. He scored 6/9 on the Beighton but was very close to 9/9 as the ones he didn't score on were very close (could touch floor but didn't put all the hand flat) but as he's only 5 he may not have fully got what the consultant wanted him to do.

He's going to see their OT and Physio once his hydrotherapy at our hospital has finished so in waiting to see how they stack up before complaining about the discharge. The physio was present at his appointment and was disgusted at his discharge and how the OT expect school to run any therapy without any support/input.

On a brighter note school are getting better at supporting him and are requesting EP input!

auntevil Wed 09-Jan-13 17:22:48

Check what system your OT is using. Ours discharges after each 'treatment' (could be 1 appointment, could be months of sessions) , then you as a parent get to re-refer when you need support. Physio has just gone to this system as well. We have been discharged from OT many a time - but like the proverbial bad penny ..... grin
If you are working well with the physio - and on the same page, maybe she could refer to OT for some core tests to be done. I did it the other way round, I asked OT to refer to physio as the paediatrician didn't think DS1 needed any. Appointment came through within 6 weeks!
Good that the school are starting to play ball. EP input sounds good. If they get the school to implement some of the strategies all to the good. If not, then it adds to your information if you need to get a statement to address his needs.

sazale Wed 09-Jan-13 19:47:08

Unfortunately there are only 2 developmental children's OT's for the whole of our borough (approx 250,000 people)! It is hard to get a referral to them.

The good news is I got a phone call today from the rheumatology OT in Sheffield and she's going to assess him on the 21st of this month! She's also spoke to the previous OT. She said that the consultant had said he was severely affected by his hypermobility :-(

I think I may have to look at getting a statement for him as besides his hypermobility difficulties he has phonological processing difficulties which means he's struggling to learn to read and has a phonological speech disorder with mild word finding difficulties (his speech is pretty good now but his SALT is expecting that he will be diagnosed with dyslexia when old enough) and social anxiety which manifests like selective mutism (still under assessment). He has barriers to learning in all areas, bless him.

cows573 Wed 09-Jan-13 23:21:23

My ds aged 4.5 has just been diagnosed with hypermobility syndrome. Have known for a while that something has being going on with him - sat up at 10.5 mths, didn't really start walking until 20 mths and then spent the time since then falling over. Dismissed by paeditrician as baby, dismissed by physio at 2.5yrs and only recently taken seriously again.

He has delayed speech with no words prior to 2.5yrs. Speech still really immature and has major problems with handwriting/drawing, concentration, tiredness and complaining of a sore tummy.

Has been referred to all specialists going. Physio diagnosed hypermobility and has further referred him to poditrist with view to special boots or insoles to help with his extreme flexibility in his ankles. She says he doesn't have EDS.

Don't know if he has dyspraxia as well. Suspected this at first but the hypermobility seems to explain all of his issues without dyspraxia. However, symtoms seem to be very similar for both conditions......

Due to start school in August and have requested that this is deferred for this year with advice from Nursery etc.

How can you go about getting extra, effective support for your child in Scotland? Not sure the Nursery fully understands issues or school. Tried to talk to Head Teacher about ds and was told it wasn't anythint to do with her as ds attends a partner provider nursery rather than a school nursery.

Questioning whether this school is best for child despite already having 2 older children at this school. How do you choose the best school for your child's needs?

Currently sitting at the computer on a chair with legs crossed over each other (& I'm 35!) so I guess I know where ds got this from!!!! LOL

moosemama Thu 10-Jan-13 10:29:51

Hi

Haven't been on an an absolute age, but I thought I'd come and tell you about ds2's OT appointment yesterday.

I wasn't expecting much, as frankly his care to date has been worse than shabby. I even said to dh the night before that I felt like cancelling, because I thought it was just going to be another waste of everyone's time.

BUT, I was wrong and it was worth going. The OT was excellent. She directed the session towards ds, really listened to him and took on board what he was saying, whilst taking into account things that I said to back up or expand on his answers. She was unimpressed with his care to date and keen to get things sorted for him asap.

The outcome of the meeting was:

1. They are going into school to assess his seating and support and tell them he needs specialist seating.

They want him to have a specialist chair that supports his pelvis and spine properly and can be adjusted to ensure his feet are flat on the floor regardless of what height of desk he is sitting at - so I guess that means a gas-lift chair.

They totally 'got' how the JHS results in him being constantly exhausted and in pain and took the view that they could help by reducing the load on him by means of ot aids and proper seating. She said just improving his seating will make a big difference, as he is currently spending all day trying to hold himself up and that alone is exhausting.

2. They are going back to paed physio, who refused to see him because he'd already been seen at the hospital by useless main physio dept hmm, to ask for advice on pain and pacing and ask them to see him.

3. They are arranging for the school nurse to work with them and school on a getting a care plan in place asap, to ensure he can tell someone when he's in pain or exhausted. (He's too scared to tell anyone when he subluxes, gets cramp or becomes exhausted, after being told off over the years for making a fuss and they said this isn't acceptable and he should have a clear path/system for requesting, help, rest and/or pain relief.)

4. They tried him with lots of different pencils/pencil grips/cutlery/rulers etc and came up with the best ones to suit his needs. Also noted during this that his fingers are extremely hypermobile - in that the end joint of his index finger completely bends back if using the wrong writing implement. In fact even using the special chunky triangular stabilos his index finger was still bending back to almost 90 degrees.

5. They are sending in a specialist PE teacher to the school to teach them how to differentiate for his needs during PE.

6. They are referring him for support from the physical disabilities inclusion team! (I was really surprised by this one.)

I was gobsmacked at how helpful they were - much better than when ds1 was assessed.

I was also sad when they got him to tell them about all the things he struggles with and how much pain and exhaustion he suffers from. We really haven't given his needs enough attention what with my health and the last few years of battling for ds1 and I have to admit, I hadn't really taken in how bad things have been for him. He rarely complains and if he does complain or cry, then things are really bad. sad

School is not going to be at all impressed, because I haven't pushed them up until this point. His teacher this year has been really good and obviously cares, but doesn't really understand how hard things are for him and because he doesn't complain, assumes he's ok. We are already public enemy no 1 with the school due to the fight we're having to get them to implement his statement, so they aren't going to take this well. I did explain it all to the OT though and she said not to worry about that, she will handle the school.

We also have the one-appointment, then discharge system, but we can self-refer at any time. It's really hit and miss how long it takes to get an appointment, it can be anything from 6 weeks to 5 months or longer depending on demand.

So anyway, I just wanted to let you know that they can do these things to support our dcs in school, so it's definitely worth keeping on fighting.

auntevil Thu 10-Jan-13 16:56:14

grin I wouldn't want to be the member of staff nearest the fan at school when it all hits Moosemama !
How old is your DS? Is he about Y5?
I found that the last session with OT that they suddenly started to take what he said as correct. That it wasn't mum over egging it so help would be offered, but from the horses mouth and unprompted.
Last Sensory Integration programme, DS got to tell the OT the things that he found most difficult. Obviously opposed to the things I would have suggested wink (nope, he said exactly what he needed help with)
None of our DCs should have to wait until they are older to be treated fairly.

Join the discussion

Join the discussion

Registering is free, easy, and means you can join in the discussion, get discounts, win prizes and lots more.

Register now