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.

I think THC ds is seeing her for EDS, and she is certainly speaking about eds at the conference rather than specifically POTs. Auntevil both THC and I meant getting a letter from the gastro team, to wave at the eds team. I would go back to the gp, armed with gastro dx, download of links with eds and gastro and general hypermobility links and ask for a referral not to a paed (they might not like taking a second opinion within the same paed team) but either to a local rheumatologist or ask for Dr Ninis (sp?) specifically.

Tell me my friends......when will I be able to afford a housekeeper/nanny to take on feeding the children and putting them to bed, so I can relax with a .....will I have to wait much longer?

You could have a point re taking the referral 'out of house (pct!). The GP is really good/bad Good in that they are really efficient and co-operative with referrals, bad as in they follow NICE guidelines and PCT guidelines to the letter.
I'm going to book an afternoon (yes, the whole afternoon) with the GP at our surgery who specialises in paediatrics, and sit and go through all their ailments. Get all their repeat prescriptions all set up on the computer system, deal with all niggles and referrals, and get it done in one go for all 3.
I had 4 paed appointments yesterday - it gets silly. I have 2 next week that clash - and knowing that if you ask to re-schedule it can be months away - DH is working from home taking the day off to cover 1 while I do the other.

It gets crazy doesn't it, and I only have ds with eds, my girls seem fine!

Sparkle dd seemed fine bar handwriting and clucky but her seems be stepping with her knees

Ds2 has the gastro issues :(

She is about the age I started noticing it with my ankles!

Apart from the weight gain and a few intolerances, thankfully ds seems fine gastro wise. Long may that continue, he has enough going on.

How is ds2 and ds1 getting on THC?

Ds1 is working over the summer , Ds two just can't get weight on he has lost 3kilos despite calories going in so be intresting review end of the month

Yeah I was about 12 when I started bit did note dd goes over to more than ds3 and is flat footed but not causing any issued

Lets hope she is not too badly affected. Hope the flat footed continues to not cause issues, my ds's feet cause him so much pain these days.

I've not been on these threads in a while (had a holiday and took some time out which was great). Things seemed to get better for DS while on holiday.

Then we came home from holiday with a bang. Got his OT appointment in August, he has been confirmed last week with type one diabetes and the school report we got says that his handwriting is appaulling ( tell me something I don't know) but also he struggles with maths and PE. Looking like a dyspraxia diagnosis. Health wise he has a cold, his health was poor before we went away and they were concerned as he had partially blocked airways in his lungs causing minor lung collapses in several areas of his lung. But all in all we are looking forward to his holidays and planning his first birthday party ( he is eight but hasn't ever really done parties before).

Am off to read back this thread and catch up on everyone, hope THC got some help for her DS(2?) and Ellie got the wheelchair she needed for her DS.

Have read back through the thread - wow, it's been a busy time for some of you. I have a question - what's POTS?

I'm finding the correlation between weight and EDS interesting, as it seems to be a big factor for most of our EDS dx'd DC's but only certain doctors will pick up on it. Major factor for me, as I'm struggling with the dx of diabetes,

Also I'm curious as to how many of you have statements? I spoke to our school last week due to the dx of diabetes, and they said that basically they want me to find funding for them to be able to keep him in mainstream school. They said his care needs are too great, yet admitted that he wouldn't be a candidate for a SN school. I want to wait for the OT report, as what she suggests will cover his educational needs, and then I can cover his medical needs side of it.

Also, does anyone use heat based pads for their DC's? Despite me asking the school not to push DS during PE (he had a week of sports last week) he came home every night complaining of sore legs. Really painful. I gave calpol and massaged and used heat pads. Seemed to make a small difference. School think I'm being overprotective, but then they don't really know about hypermobility or pain (or CF or diabetes). At least they picked up his writing/maths issues so all is not lost.

I hope those who are going to the meetings get to meet up and get some useful information. Have fun too of course.

Reindeer

Ds should be able get statement without to much issued due to medical needs you can apply or school can . Better if you do ad you can appeal

But point school towards exceptional needs funding while sorting out a statement .but medical grounds they have to meet anyway maybe got your community nurse to talk to them

Ds3 does have a statement as he also has sever S&l problems alongside hid PD so in a unit and your can't get without statement . But as time gone on his statement gets more added to it

PoTs is Postural Tachycardia Syndrome - blood pools in your feet and legs (possiby because of stretchy veins), blood pressure drops, heart rate rises, you faint, is the basic explanation.

It's common in EDS, but hardly anyone has heard of it, even though to diagnose it is really simple and straightforward - take BP lying down, take BP standing up, if it rises by more than 30bpm (adults) 40 bpm (children) then it's PoTS. And you don't always faint with it - there are soeme case studies on the STARS website where people have fainted once or twice ever, and just feel really really rubbish (dizzy, generally feeling ill).

No-one in the UK specialises in DC with PoTS as far as I've been able to find out, which is why we're pinning our hopes on Dr Ninis at St Marys. Once you're over 18 there are several clinics and doctors, but younger than that and you're a bit stuck.

Yup lot of places only just realising that young kids can suffer

Has anyone got appointment yet with Dr ninis?

We see her on 29th August, clinics are twice a month and she's away this month, so that was the earliest clinic with spaces when I spoke to her secretary.

Ah ok so I suspect were be September/October think referal only going of this week

On positive side she has advance warning as Proffesor Grahame with my permission passed on all his findings and report in writing plus was going to chat with her

DS2's wheelchair was delivered this morning . He has been practising self propelling today and he is already better at it than he is at walking. And faster too, I'll have to get my running shoes on!

THC someone on an EDS facebook group told me that a lot of people with EDS start with symptoms when they start puberty. I started showing symptoms when I was about 11 although the GP said it was growing pains.

Does anyone know the best way of getting an official diagnosis of EDS for a 4 year old. The school senco has said it will be easier to get the extra funding for him with a diagnosis but the paed is reluctant to diagnose when he is so young and has other symptoms that don't quite match up with EDS. I have a letter from the neuro which says he has EDS type 4 (hypermobility type) but as he's got the number wrong (I spent ages arguing with him about whether type 3 or type 4 was the hypermobility one but he was adamant that it was type 4) I can't see that being much use.

Still no word from the OT. Thanks whoever suggested to ring her myself, I didn't think of doing that [dozey emoticon]. She's not in the office today so I will try again on monday.

Hi all, just found this thread (thanks midnight ), I am off to see Prof G on Tuesday and am wondering what to expect. I was told I had HMS by a physio three years ago but I've only recently started having more and more problems. I'm hoping against hope that my DD doesn't follow me into this, she is very hypermobile but hasn't had any problems so far (apart from having to wear orthotics).

Hmm when Ds saw him he dis full examination of every joint checked for scolisis . Carried out some basic pots testing but this may been due to ds3 collapsing previously and demonstration bang on queue in clinic

He also asked lots of questions and asked what I was looking for . He is a real nice guy am impressed with him

I'm also here from the adult support thread, and have a question about my dd. She, and I, have marfan syndrome. My Marfan specialist has suggested that dd would be a suitable candidate for a drug trial. Having read the trial criteria, I am happy with its safety, and would gladly take part in it myself, but I do not fit the entry criteria, (aged between 6-40, and no previous cardiac surgery).

Obviously, I'm hesitating a lot more, because it's my dd, and she's 11, so at an age where she's very conscious of her body. I always try to ensure that she doesn't feel different and never wrap her up in cotton wool. I have never prevented her from doing something that she wants to, and so she participates in Scouts and sports as normal.

The trial is using an established drug, which is why children are being recruited. Dd has a history of wheezing, although she is not asthmatic. Atenolol, a betablocker, is currently the medication of choice in marfan, but it is contraindicated for wheezing, wheras the new trial medication is safe to use. The trial is a double blind randomised between placebo and irbesartan, so she may well not get the medication, but will get a yearly echo, which she does anyway.

For her to take part, she would need to be genetically screened, which is something that I have not consented to so far, although as my mutation has already been sequenced, a saliva sample should be enough. She has a fear of needles, and isn't too keen on doctors. I have hesitated because I have always felt that her DNA is hers and not mine.

So, am I crazy to consider enroling a child in a drug trial, and have any of you parents allowed your child's DNA to be sequenced?

THC- thank you, you knowledgeable thing. Am going to apply for the extra funding. Did speak to the diabetes community nurse, but she felt that as they are holding off insulin at the moment, that she didn't want to push for funding. However with his other medical issues I think I'm going to apply for the the interim funding and then see what recommendations the OT brings. Good luck with your referral to Dr N, hope it's sooner than later, it's shocking the way GOSH treated you and your DS.

Ellie - glad to hear DS likes his new wheels. Hope it helps him. We waiting six months for our referral to OT, any chance you could get the consultant to speed it up by writing a letter? It took me ages to chase up ours, and the school were helping and have been supportive.

Mad - my circs are slightly different but we have taken part in a few trials, these have been mainly psychological but we did put DS forward for a medical trial for a different medical condition, which was DNA sequenced based. Unfortunately, DS wasn't well enough to take part once the actual trials started. At 11 the medical profession would be asking her opinion on her health and whether or not she wanted to take part (well I know they would WRT DS and his treatments). Maybe broach the subject with her and see what she says before taking it further.

Mad

Ds3 Is in a trial now not using the standard microarray he is on the next generation sequencing which is only available through trials bot on Nhs yet as to expensive then by default samples from all of us

Ironic by time available on nhs it bd out of date.

Yes it may feel odd but I honestly feel that it means can make informed choices when older . Sometimes knowing is better than not

Did discuss with ds1 and ds2 as there both older but only you know how mature dd is

Dd is also on trial through the Brompton and we seen improvements

Reindeer also talk to school nurse . Exceptional needs finding needs be applied for by the school

But I would statement yourself once were out of here )UCL ) will find link for letter template

Had fan day at zoo yesterday ds3 walked at his pace lots of rest stops etc but after we went into macdonalds round corner from UCL he was stood to me in queue next thing he just dropped to the floor completldg out of it

Scaring me ANC the staff and others in the restaurant have to say everyone was really goof

999 called but they ran over instead as literally across road from side door and ambulance take far to long .They gave homn done 02 and picked him ip and ran back to hospital telling me to meet them their straight into resus where he was still conked White as a sheet with heart raccing

3 hrs in resus with lots worried Drs , 5 hrs later he was bright as a button but they won't let us go till mon morning at least and are going to see since Proff G around ask for advice

And I have never shot across a London road with so little disregard for traffic

HC and RB - Thanks for replying to my post. I certainly will need to get dd to consent for taking part in the trial, plus dh and her paediatric cardiologist. She's nearly 12, so I imagine that the trial coordinators would expect it. It was actually my doctor that has suggested it, not hers.

HC - sorry to hear that your ds3 collapsed yesterday, and you're both stuck in hospital. Glad he's perked up now .

Sitting in a travelodge in Bath with DD1 for her appointment tommorow at the RNHRD. Will do a hospital review afterwards!
Hopefully we'll leave with some pain management treatment and a referral for physio...

Ellie am afraid not most won't dx EDS before 5 as there's a degree of laxity in all dc to then not even Proff G or Proffesor Pope see before the age of 5 we was just stuck with the hypermobility level /gdd label till then

Stupid pard not knowing difference between 3/4 there's s big range of difference in them

Good luck with appointment tomorrow . My friends son with EDS is seen at Bath and she seems to like them