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.

sparkle glad they sort of listerend

And yep your right I like to crawl ina corner with me and dc adn say feck of to the lot of them .Last counts ds3 has 11 specialists/therpaist involved and im sick of them only dealing with one bit of it

ellei what size is ds3 as we had pidero boots and he was tiny .He is still only a child size 7 now at almost 7

THC - I know, if only they had a more holistic approach, hardly radical...treating the whole child is it?

Ellie - I thought piedro boots started ever so small.....what size are your ds3's feet? (sparkle imagines tiny tiny fairy feet)

He has got fairy feet . He is 16 months and he wears 0-3 months socks which is a size 0 I think. I tried DS2's old size 18 piedro boots (size 2.5 in normal sizes I think) and they are like boats on him. I think you can get size 17 piedro boots but they would still be huge on him.

THC I know what you mean about the hordes of proffessionals. DS2 had 14 that I can think of at 1 year old. I had a massive culling session and tried to reduce the quantity of appointments because we were spending our lives at the hospital and DS1 was moaning that we never got to go to toddler groups or the park anymore. So we got it down to just the hv, paed and orthotics. Now that school is on the horizon they are creeping back and he now has 13 and the number seems to keep going up.

That reminds me, the OT is coming on friday to discuss toilet adaptations. Normally I just tidy the living room before a home visit but this time she'll be coming upstairs to look in the bathroom while passing my overflowing airing cupboard on the way, argh!

HI ALL....
elli i agree upstairs AND downstairs AND the stairs....it would be tooooo much for me to cope with !!

As for piedro boots.. i thought they were made to measure..my ds was due new ones but they took so long to come through they didn't fit him !! I wanted to give them back but orthotics and physio said "give them to a friend as they are specific to each child"..E-bay was mentioned as well

Now i have a little story to tell you which i will try and keep to the point....so are you all sitting comfortably...then i shall begin !

Yesterday ds1(10) wanted ds3(dx) to go out of the sitting room with him for something or the other(not relevent to story!)

Blah.. Blah.. Blah...He picked dx up by outer arms (all still in good fun) to carry him out of room ..dx banged elbow ...got put down...but was crying holding his OTHER arm...ds1 got worried/defensive and said to me that wasn't the arm he banged....

dx reply"It's because of my bone problem" !!!

Now dx is 7.9 years and i have tried to be honest with him ,age appropriatly needs to be why he has lots of appointments/extra help/bloods/and why (because he knows)he is not quite the same as his peers..

Now i am worried he is going to turn into a HYPERCONDRIAC(?sp)

Maybe it did hurt him but normally i just get "**hurt me"

He is on antibiotics at the moment 4xday and is constantly reminding me when his next dose is due

Some of you have dc's samish age...how are you dealing with the infomation they need or what you give them ???
Thank-you

Thanks Sparkle, Elliejjtiny and Auntevil for your replies and to everyone for sharing your information. Well we had our appointment last Friday and the Geneticist felt that he had all the markers for EDS (Hypermobility/ Type III) but was reluctant to diagnose him given his age (18 months). He was wondering if his joints will became more stable once he is walking properly so wants to see him in a year and have him monitored in the meantime. All feels a bit frustrating and worrying to have to wait that long but he is seeing his Orthopaedic Consultant this week so we will see what they say.

Interestingly though, the Geneticist did think that all the UTIs could be associated with EDS as the urethra may not be strong enough to void fully leading to infections. He said the same often occurred regarding constipation too. So at least we know that if he does have it that it's all connected and he's not just extremely unfortunate. Thanks again for the kind welcome-looks like I won't be leaving this thread just yet!

Nature

Yes they are often loathe to dx below 5 as dc can be more bendy.

And I was surprised how often constipation is an issue for dc with EDS

Ds2 has suffered from severe constipation and impaction, I had no idea it could be related.

Moosemama -he said that the muscles required for bowel movements (called peristalsis I think) can be sluggish & leads to constipation and then impaction. Similarly, the urethra doesn't effectively contract and relax to void fully so some urine pools in the kidney and becomes a breeding ground for bacteria. At least that was my very unscientific understanding!

Thanks Nature.

That ties in with what happened to ds2 then, I think. He's always eaten well, plenty of fibre etc and drunk plenty of water, but it seems to have no effect. GP said slow gut motility, which I guess is the same thing as poor peristalsis.

Hi,

My Ds has joint hypermobility syndrome. We've been back to the GP today as he has lots of ongoing issues with pain and cramps in his hands alongside several other problems. I was advised to give him paracetamol which we do sometimes give him anyway apart from that she was wholly unhelpful and just brushed off all the other concerns and had no advice for me. I've come away on the brink of tears because I hate seeing my Ds struggling and I feel really helpless to do anything to help him. I don't like to just keep dosing him up on paracetamol all the time. My DH is also asking where do we go from here we can't just leave him like this. So I was wondering if anyone on here has any experience or advise on what we should do, is there any support or help we can access. Should I get my DH to take him to another GP for a second opinion? We had an information sheet given to us by the paediatrican when he was first diagnosed and school do support him by providing an angled writing board and they make allowances for his handwriting etc. But I just feel like there must be something more post diagnosis that can be done to help him. The attitude of the GP today just seemed to be, oh well that's the way he is he'll just have to learn to live with it nothing we can do.

Sorry that's long, I'm just feeling so frustrated and helpless and want to help my DS.

Hi Sonatensatz..poor you and poor ds

There are things that can be done..did pead not refer him to physio/OT..not sure how good OT is as we have our first app tomorrow.

How old is ds? my ds is 7.9yrs

Hi bizzey, thanks for replying. pead just gave me an information sheet no referals or anything. I had been wondering about physio. DS is 7.8. he's been diagnosed for about 18mths or so now.

WOW same age as mine !!!!! Let me get my thinking head on (I loose it sometimes!) and the oven and i will come back and tell you my story and see if it helps you..

Hi Sonatensatz, so sorry to hear your ds isn't being properly supported.

My ds was 8 in April and was diagnosed a few weeks ago. The first thing the paed did was refer him for physiotherapy, so they should at least do that as a bare minimum.

We were also told it would be a good idea to get him swimming and cycling regularly, as non-weight bearing exercise will help build his muscles and ultimately support his joints. Apparently balance boards are also a good idea for building up core strength and taking the strain off joints that way, as are gentle exercises such as pilates.

Not sure what to suggest for painful hands though, I did read about anti-inflammatory type gel pain relief (Voltarol etc) being helpful in some cases, but the ones I've seen say not for use in children under the age of 12.

I was wondering about giving Avogel arnica gel a go. We've used other Vogel remedies in the past and found them to be pretty good and we already use arnica for bumps and bruises.

sonatensatz - depressing reading - sorry. Tbh most of my experiences with services following dxs is you get nothing unless you keep mithering and pushing. I do honestly believe that the NHS/Education etc work on the theory that only a reduced % of parents carry on fighting after dx so they have to spend less. Very negative I know - but that is my experience. All I can say is brace yourself and push for support - oh and plenty of or
Nature that was very interesting about EDS and peristalsis. It makes me think that I am not as mad as most would believe . DS1 is hypermobile, dyspraxia and SPD. He also has IBS - which can often be linked to dyspraxia. So nobody has ever looked further as to potential causes. DS2 has 'evacuation' problems and IBS. He was impacted a few years back, and treated for constipation, but a friend who is a pharmacist, told me that an alternate dose would treat for diarrhoea, so I swapped and improved the situation no end. But like you said, he doesn't seem to fully evacuate - there's always something left. Looking at him recently, I think he has quite flexible joints
DS3 has IBS and swallowing issues, and evacuation issues.
The youngest 2 definitely don't have dyspraxia - but there has to be a link somewhere?

Re gastro issues. A quick google throws up this.

Which states the following:

"Gastrointestinal. Functional bowel disorders are common and underrecognized, affecting up to 50% of individuals with EDS, hypermobility and classic types [Levy et al 1999].

Gastroesophageal reflux and gastritis may be symptomatic despite maximal doses of proton pump inhibitors with additional H2-blockers and acid-neutralizing medications.

Early satiety and delayed gastric emptying may occur and may be exacerbated by opioid (and other) medications.

Irritable bowel syndrome may manifest with diarrhea and/or constipation, associated with abdominal cramping and rectal mucus."

Also found this.

Which states:

<span class="italic">"Digestive problems affect at least half of those with classical and hypermobility EDS. It?s again not a single diagnosis with a simple explanation, but a mixture of symptoms associated with gastroesophageal reflux disease, gastritis, gastroparesis, Irritable bowel syndrome, oesophageal spasm, eosinophilic esophagitis, peptic ulcers, deodenul ulcers, oesophageal ulcers , diverticulitis."</span>

There's a lot more info out there as well, so it seems the profs do know about this as symptom of EDS. Lots of talk about it on various EDS forums etc.

Thanks moosemama - You know when you know there is a link, but everyone involved in their care just doesn't want to listen! Only DS1 has been told he is hypermobile. Paediatricians and gastroenterologists working with the other 2, just don't want to see that there could be a genetic cause - hypermobility cause. They look at them all in isolation - even though I moved heaven and earth to get them to all see the same paed and gastro - with appointments following each other so they couldn't 'forget' about the link
The reflux is interesting as GOSH reckon that the swallowing issues with DS3 could have been caused by un diagnosed reflux issues. I'm hoping that it couldn't have been painful for him as I would have hoped that I would have noticed if he had of been in pain.
Also weirdly, I am hypermobile (self diagnosis by doing the Beighton/Brighton scale and have IBS and had an ulcer by the time I was 23.
Thats the scariest thing that I find on this thread. I look at the posts and think OMG and then (put in a family member's name) x had that. So many things seem to fall in to place [scary emoticon]

Sooniestra

Maybe get Dh and ask for referal to Physio infact you may be able to self refer

Also can try getting school nurse to refer to

Oh and some get direahea rather than constipation ( step forward ds2 ) were waiting in genetics for him so be intresting

But also sent of samples for the DDD study so be intresting see what find on his chromosomes . Though could take up to 3 years

I am the same auntevil, so many things falling into place regarding our family history the more I read both technically and anecdotally.

I think it's a huge failing of the NHS that it is designed to deal with individual parts instead of the whole. Holistic care - or at the very least - joined up care would most likely save them a fortune and free up waiting lists no end.

If it helps, here is a list of links to info re swallowing issues and EDS:

GOSH Study

EDS forum question and answers.

More forum Q&As.

Yet another forum Q&A, this time relating to both swallowing problems and EDS.

EDS blog.

Again, there is loads more out there on the subject, but the GOSH study alone suggests that medics should be taking this more seriously.

HI Sonatenatz I am back ...! Well here goes I will try and bullet it to make it easier to read and you can see if any thing "clicks"

DS was refered to pead by H/V and seen by pead early as (?) months as he did not wnt to put weigh on legs....you know, the bouncing on legs babies like to do ..was told he had H/P mobile ankles and would be late to walk..
(22mths)

Big blank now ..but at 3yrs i noticed he had really flat feet...saw physio and pead and he was put into piedro boots and insoles and I was again told he had H/P ankles and while orthetics man was measuring him ,he flexed his other joints and said he was H/P all over ...!! ok ???..no referal or help !

BIG FOG NOW as i leave xdh and start afresh with 3 ds's...in the past 21/2 years I have pushed and slowly got help...regular physio and ex plan...Speech help which i do believe is related to H/M and ,,oh gosh lots of other things but I might be boring you now !!!!

Any of this ring a bell

Ellie if no boots small enough would they cast him for inner soles or Dafos

Hi, still here, but often feel too weighed down to post - sorry, that's really bad isn't it?

Our son has 'fast transit' due to his EDS, both constipation and rapid transit are common features of the syndrome. He takes Imodium Syrup if we are going out to help with the logistics of it all.

He also has incomplete voiding due to detruser under and over activity, plus a bladder that over-fills and then is unable to void. He is catherised every 3 hours to help prevent this becoming worse as he gets older. Prof Pope and the Neuropathic Bowel Bladder team at the Evelina have said that this is all EDS linked.

Now I've summoned the courage to post again, can anyone help us with c-spine problems? His c-spine is slipping and he keeps trying to 'click' it back. I am reluctant to get it braced as I don't want to make the muscle tone worse through lack of use. We have stopped the sit-ups from the GOSH program as it concerns me that these could make the situation worse.

We are also having issues with 'dry-eye' and having to use artificial tears. He has autonomic nervous system dysfunction and this is linked, so I am told.

We have just had additional dx of dyspraxia and dyslexia, and are now on the road to tests for sensory neuropathy and erythromelagia. Am getting to the point where I don't know how many more tests we can can do, or want to do. The genetics have come back with a 'rare fibre abnormality due to EDS' - and we await the final biopsy result which could take another 6 months now.

Feel like it's all so rubbish, and I just want to be mummy and not have all this crap to deal with, sorry, I don't post for months, and then just whinge.

I often read through, and am sending love and hugs to everyone xx

Mycarscallednev it sounds like you have such a lot on your plate, don't apologise for not posting. From the sounds of it it seems like it's more important that we are here to support you than the other way around. Never apologise for letting it all out either, it's not whingeing, we all have to loosen our pressure valves sometimes or we'd never cope.

I'm afraid, as a newbie I don't have any useful advice, but I am here to listen if you need me to.

(((hugs))) to you too nev I know what you mean about just wanting to be a mummy. Sometimes another mum at school will moan about some illness their child has and I want to shout "I have to deal with this stuff all the time". I have dyspraxia and I think it's linked to EDS but I'm not sure, it might be just I know loads of people with both and I think there must be a link.

THC Not sure, I think they are hoping his feet grow while we are waiting

DS2 has started pointing at those wheelchair signs that indicate access for wheelchair users etc and saying "look, DS2's toilet". So cute.