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.

Hi SPARKLE..... Glad you got through your weekend ok ....even though it sounds like your liver took a bit of a battering !!!!

Can't believe that you didn't get DLA I have got the form and know I have to fill it in as a worst day ever senario but still dont think it will be like one of your days . I had better fill it in as it seems to be recorded that i have asked for it because it has the date stamped on it ,but i am not hopefull.

Did you notice my querry about the squishy ,bottom of thumb area being blue /bruised after using putty for his hand strengthing exercises ? Do you think that might be EDS related ?

Thank-you

sparkle glad you survived

Proffesor Graham can refer you to othe rpeople on the nhs .so it may be worth the outlay to see him .thats what im hoping its not as bad as I thought £300

Bizzey - I did notice your observation about the base of the thumb....mine and ds's are both very blue. My mum remembers trying to wash it off my hands as a child, until I told her it was me, and not pen!! I don't know if it is bruising, or perhaps and increased blood flow to the area after he has used the putty could be a possibility too. Both ds and I have a very pronounced muscle to the area too. I would ask, it is always worth asking. The date stamp on the dla form means if you are granted the allowance it is back dated to that date, as that is when you ordered the forms. If you don't complete it in the timescale it doesn't matter to them as they will go from when they receive it.

My liver appears to be fine, as long as I don't have to go through these events more frequently than every 5 years!

THC £300 is very reasonable..... how do you contact him privately? If we went down that route he would then be able to refer us on to GOSH I guess....if we wanted that, which I am not sure about. It is the gosh tv programme again tonight I think, I am hoping they are going to do a relevant ward for us....but I guess that is too much to hope for.

Just had a look down at my thumbs - and yes,they are very veiny blue. Would check the kids, but they are behaving at the mo My veins that lead to the wrist from that area are very blue too, do you think that it could be that translucent skin type reflecting more veins?
I think more and more that my 3DS have been given some hypermobility gene from me I'm seeing DS1's paediatrician tomorrow to discuss where we go from here re hypermobility. She has been given written notice that if she decides to do sweet FA then I won't a 2nd opinion.He also has dyspraxia, IBS and SPD and his moods are up and down like a yoyo at the moment.
I still think that DS2 and DS3 have issues with hypermobility related issues. Both have incontinence issues - which for DS2 at 7, is a real social issue. He is also incredibly bendy, and I've noticed a curving in his spine when he sits that just doesn't quite look right.
DS3 also has dysphagia - swallowing issues. There are a couple of theories as to how it started, but he has to self puree his food to be able to swallow - and still gags when something too big goes down. He's nearly 5.
They both have IBS too.
I suppose I'm just worried that there might be issues with internal structures/collagen that we can't see, and that no-one is interested in looking for answers
Still, we shall see if tomorrow brings good news. Ever the optimist

auntville ....good luck for tomorow...
I have had a at everyone looking at their thumbs now !!

He definitly has the blue translucent skin which seems to be getting more pronounced lately....Will await your update tomorow..

Tbh - and I apologise for the gloating here - I have really fine pored smooth skin, that seems to be ageing quite well. So I don't really mind my veins showing through, rather that than looking like an old leather boot
Although just looked down further from the thumb, and the blueness continues on the underside of my arm - I'm starting to think avatar, or smurf?

HA HA I will tell him, even though he might have problems now .....he will age gracefully...

I didn't do the newbie update last time so here it goes: my DS is 7, and has cystic fibrosis, suspected cystic fibrosis related diabetes, recently dx with BJH by his physio and there are outstanding dx's for asthma and dyspraxia (I think there is a link between dyspraxia and BJh/EDS). DS has poor motor control, poor balance and cannot write very well causing school to be an issue now. We are still waiting for an OT appointment.

Sparkle, glad you survived the weekend, it's a shame that we fight so many people, then you have to fight family as well. I'll go visit your MIL next time instead but I can't promise I'll be nice! I'm shocked that you were refused DLA, that is terrible. I hope you do muster up the courage to reapply again as you should be granted both care and mobility with your DS's issues.

Bizzey - dS has clotting issues too, and has the blue thumb thing, but I think it's because DS has quite translucent skin so that when his thumb bends in an BJH way the veins become pushed up towards the skin causing the veins to be seen
More clearly through the skin.

THC - DS is 19.01kgs (the .01 is very important) and he's nearly eight! I despair about his weight I really do, but we have a high fat diet, he has a mini button for night feeds and we bolus high calorie formula through this too, but still we havent seen any progress for nine months now. They suspect diabetes may be an issue too, so we are doing blood sugar monitoring too.

Wee did have some good news yesterday, we finished IV antibioitics! I did three weeks worth so both DS and I are exhausted. But he is still symptomatic so they did chest x rays and found that his airways are shutting down and he has had a tiny lung collapse, so he's now on steroids and more antibiotics. Hopefully we'll start to see an improvement now. No more news on the BJH front but I've asked his teacher to chase the OT referral. I'm also going to ask for another referral to get DS seen by a doctor re his BJH as we've not had any paediatrician confirm it yet.

auntevil - My ds and my d sis (dx bjh) have very smooth translucent skin. We burn so easily, but are aging quite well too (mind you ds should be as he is only 9! ) I do get comments when people find out I am 40, which is rather nice. I have always thought it was because my mum kept us out of the sun, even when it was fashionable to be tanning, she looks amazing at 69. Maybe it is eds related though.....got to be some upsides!! I also have very visible veins through the skin in my arms....not so much my rather fat legs though. Only half smurf here.
The ibs (once explained by my favourite german great uncle in law, who was a gp in germany, as a catch all for any disgestive problems they can't explain or understand) is very much connected to eds, there is plenty of evidence of it being researched into. They really need to address this proactively, do some tests etc. I will be thinking of you tomorrow. When you say you see a curve in the spine when your ds is sitting, do you mean hunched over (which is eds related poor core muscle tone) or do you mean to the side which would be scolilosis (also eds related?)

reindeer - I am sorry you have had such a battle with antibios, are you doing oral antibios now then? Your ds has so much to deal with, so many different things, poor love.

I am now sure that ds' weight, which was 20 kg, at 1.30cm tall has stabilised to a much more reasonable 28kg at 1.34, he is looking so much better and stronger, even the rheumatologist commented on it the other week. That weight loss was due to pain and eds rather than anything more serious like your ds has to contend with.

As far as dla is concerned I am not sure I have it in me, especially as they seem to be refusing even more applications than ever.

Just to compare ...in febuary(7.6yrs) he was 124cm and 19.2 kg....they all seem to be following a pattern ???

I am feeling left out on the prominnant blue viens and porcaline skin.....can i join with prominent ..mass ,... knobbely..blue varicose viens ....

Now varicose veins, I have those a plenty on my legs, very attractive!

In terms of weight gain for ds, the last 12 months were a turning point, and I don't think it was just the extra cake I kept giving him. But then his core muscle tone has also markedly improved in the last 12 months, so it makes it difficult to separate.

I have IBS and varicose veins - which the Drs are always dismissing because of my age.

Fingers crossed I age nicely (doubt it as DS gives me wrinkles )

DS is on orals but it's not a big deal as he is on oral antibiotics all the time anyway as a prophylactic. I'm just pleased I don't have to do more IV's! The weight thing is odd. I took the info that sparkle gave me (thank you btw) to our consultant which documents all the affects BJH has on the body, and highlighted the suspected weight issues /protein issues to his consultant. He wasn't interested. But then again as DS is more likely to have CF related malabsorption I think that is why he doesn't believe their is a link. I think this thread is evident of all the children with EDS/BJH having weight issues proves that it could be a part of it after all.

Hope you are all enjoying the sunshine, it's lovely here.

Ah see Ds is. Titch next thing is referal to look at why he is so small

Just a quick up date - as I've got planning to do for tomorrow and all the bleeding lights have gone out and its not the fuse
I would say 75% good meeting. There were some really good results - where I have got exactly what I asked for, but 1 real major sticking point. Paed says hypermobility and IBS are not in any way connected , so there is no reason to investigate further.
I kept trying to bring in the sibling issue - bur she would not have it. So plan B on this - still more avenues not exhausted yet
A major plus is that as far as LEA goes, paed is prepared to go the extra mile to help and write 'what is necessary' to have DS secondary application ( still a way to go - he's only in year4!) classed as medical/social. This means we can preference schools that are far more suitable. Paed is of the opinion that 'labelling' a child is not helpful and that their strengths should be highlighted, rather than 'dwelling' on the more negative traits. Very noble sentiment - if not practical . Well DS is academic, so sending him to a school that will 'highlight' his strengths is the way to go . Seriously though - paed support will help immensely, so quite chuffed with that success.

for people struggling to get past doctors who won't accept EDS=JHS, I've just got Prof Grahame's report, where amongst a load of other stuff he says "the phenotypic pattern of the Ehlers Danlos syndrome hypermobility type, formerly EDS 111 equivalent to the joint hypermobility syndrome. So he's pretty definite that they are the same thing.

He's managed to find a paediatrician at St Marys who he says has a particular interest in PoTS in EDS, so we just need to wait for that referral to turn into an actual appointment.

Turns out she also has scoliosis and the "beginnings of an incomplete marfanoid habitus" as well. Oh, and the dentist last night has referred her as an urgent case to the orthodontist at the hospital as she has submerged baby teeth which need to be taken out and get braces to close the gap. Poor DD! She's going to look back to being 14 as the worst time of her life .

Thanks Midnight, that was really helpful. When we saw the geneticist she said DS2 had EDS type 3 but she said that type 3 wasn't really EDS, only the other types . The neurologist thinks he has BJHMS and the paed thinks he has something else but not sure what.

Auntevil My sister and my friend have hypermobility and IBS. I'm sure I read somewhere that there is a link.

I shall wear midnight were see him end of June but privately

Well hold in Ti your hats it has berm decided Rio discharged by GOSh As he is to complex as he is not fitting the normal pattern /characteristics of EDs etc . fFS I know that's why I hoped you could help

They can't do in-house referrals to other people to either . So were back to dangling in the wind and pinning hope that'd Proffesor Grayham can help

Oh THC, I know you wanted out of GOSH but no further referral? They are just telling you they don't know and to start the process again from the beginning? Bastards (sorry for the foul language) but I can't believe they would just abandon you like that.

Fingers crossed Proff Graeme will be able to at least provide some answers or point you in the right place.

yep they are not allowed to in house refer so have to go back to Gp

Unbloodybelieveable THC! I am utterly speechless. They are supposed to be supportive of families and children with complex needs. I can not believe they have just discharged him!!!!!!!

Ellie - as far as your geneticist is concerned, I think that was really unhelpful. Beyond unhelpful. If Prof Grahame and others who specialise in this field say it is EDS, then how on earth can a geneticist who does not specialise in this area at all make such crass comments. It is like my ds' rheumatologist saying he sees more hypermobile children than ds, but not anyone with more pain. It devalues the condition and the symptoms which a patient is feeling. I would actually write to the geneticist and say these things, but you would get nothing from it, it would just be a venting process. What it would be worth doing is pushing for a rheumatologist appointment, as they specialise in this, rather than occasionally a case crossing the desk of a paed or a neurologist. Then you will be able to get a dx. If the paed says he doesn't know what it is then you could ask for a referral from him/her.

Midnight - good news from Prof G re the referral. I do hope you don't have to wait too long. I am sorry her 14's are being one medical appt after another, but good teeth take your self confidence a long way How bad is the scoliosis, and is he actually suggesting marfans?

Auntevil - I am glad the paed is supporting the school needs, and will put pressure on the la. I am surprised about them ignoring the ibs. I too have read things which link the two conditions.....I will try and find the links. You could copy them and send them to the paed.

www.ehlers-danlos.org/index.php/ehlers-danlos-syndrome-mainmenu-17/8-site-pages/pages/21-symptoms-of-eds This suggests a link with Gastrointestinal diverticula, but doesn't discuss any syptoms at all.

www.ednf.org/index.php?option=com_content&task=view&id=2108&Itemid=88889265 This one specifically discussed the possibility of ibs and type 3 eds.

prettyill.com/downloads/10_The_differential_diagnosis_of_children_with_joint_hypermobility_a_review_of_the_literature.pdf This is an australian study which revioews all the other global reaserch on dx eds/hypermobility/marfans etc. t doesn't teach us anything new, but it ws interesting to see it in one place though.

prettyill.com/videos this website is run by a eye doctor with eds, who has done a lot of research into eds, and has done some research linking POTs and eds. She is hysterical to watch....maybe that was just me.... but there was some interseting stuff in between,

Off to clean all the floors and do the ironing, what and exciting life I lead.

Hi - just catching up - my sons very slight - 22kg and 134cm tall. He's now 8. Apparently 'marfanoid' - but without true Marfans - although we are still awaiting the final biopsy results.

Prof. Pope and his team do seem to connect all the things we see with the EDS. It's crazy how one dept say one thing and another so called 'specialist centre for EDS' say another - I wish they would all compare notes and give something they all agree on.
It makes it really hard to quantifiy everything when we are explaining symptoms and management to others. They do connect his fast bowel transit and bladder problems to his EDS, and they agree that EDS often goes alongside Dyspraxia and Dyslexia and POTS. They did however say this was considered by some to be 'contraversial'!!

TBH I'm getting cheesed off with diagnositics - they're only any good if the follow up care is useful and of benefit [....and available]. We have been waiting since Feb for GOSH to get a management plan put together having had a MDM, but getting everyone together for a meeting is a nightmare - what did they expect?!!!

We all need a holistic whole person plan as there are so many co-morbid conditions and issues that relate or go with EDS - just taking a look here is enough to tell them that, and we need to be able to have something made to fit - not a one size fits all. It would save time and money in the long-term.

It breaks my heart to read through this thread - we all have so much to deal with, and we do deal with it - but it would seem that we all have very much the same battles and worries which could be helped - if only that help was better co-ordinated and organised.

Its no good just saying we are 'interesting' - clinically maybe, but it's no help day to day.

Love and hugs to everyone here xx

Just checking in just had chat with Proffesor pope team and 6b is still in the running Tis known as the kyroscophlis type which course brings added extras

Basically it's 6a minue the enzyme urine postive . So they said it is essntisl he is followed up as there are added complications included life threading risk to Aorta valve etc

They are going to send another letter to me clarifying it in simple terms so that a Dr can understand

And when told them im going see Proffesor Grahaym he said that he should be able to refer to the right person

Sparkle, the scolosis is 7 degrees, so within normal boundaries. He doesn't say that she has marfans, but wanted that to be reviewed after her "adolescent growth spurt" - her wingspan ratio wasn't enough (1:1.04 or 1:1.4, one of those anyway, juts under the ratio for marfans) nor does she have other symptoms like high palate etc. So I think it's some of the indicators, but mildly. She does score incredibly highly for her age on his autonomic dysfunction scale, and he was saddened (but not surprised) we'd struggled for as long as we had getting a diganosis, as he reckoned it was perfectly obvious what was wrong.

THC - I cannot believe GOSH have just dumped you out of the system! It sounds very dubious that they can't refer sideways, as both the Brompton, and UCLH have doen that for us; I can't see that GOSH is a special case . Hopefully Prof G will be as helpful for you as he was for us.

Nev, not much help, but once your DS is 13, he may be able to be seen at the teen clinic at UCLH which claim to be holistic and whole person.

Auntevil - we saw a paed gastro (pre EDS diagnosis) who agreed that DDs gastric problems were most likely EDS connected - his phrase was "you get a lot of gastric issues with Ehlers Danlos". IBS is a catch-all when they can't work out exactly what it is though, isn't it? But Sparkles links say it all much better. Although if a junior locum paed knows there's a link, why doesn't everyone?