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.

That's great auntevil. Maybe you could get him to sign a blank cheque next time

Or how about a blank signed referral form - one for each of us on here. That way, we could all get at least 1 appointment that we want but still can't get!
Had an interesting chat with SENco today. He was off to a meeting about the new changes coming in. He said" parents aren't stupid, schools aren't stupid and health services aren't stupid, we all know that it is just cost cutting. We're going along to see how it will affect us, and more importantly, how it will affect what we can do in school" Very depressing really. I suppose it was like having been found guilty and going for sentencing. he is also a teacher, so regardless of cutbacks, he has a job, so as such less of a vested interest, but he still sounded genuinely concerned.

a new question for you - anyone heard of lung issues and EDS? Only I have a potential diagnosis of lung disease which (if it is that) may be linked to auto-immune conditions or connective tissue disorders like rheumatoid arthritis. And i wondered if EDS would also come under that, as there's speculation that there's auto-immune stuff going on with that as well I think (or maybe I'm just making that up ). I mentioned the family history of EDS to the doctor, and he didn't dismiss it as totally irrelevant, but if there was a known link, then that would bump that up the list of potential diagnoses a bit.

I have googled, and only found one research study which was more to do with asthma, but without a definite diagnosis of my own, it's tricky getting the right search terms for Dr Google .

DD survived her train journeys (as did I, just about!), plus the late nights with her big sister (who is thankfully not your typical student, so it was watching films at home rather than trailing round pubs and clubs), so the wine was celebratory rather than medicinal . Fainting gettign a bit worse though (twice yesterday, four times today ), but I know she's stressed about me being ill (and I'm being careful not to tell her the names of the things the doctor is looking for, as googling them is terrifying me, never mind a 14 y.o.), and that makes things much harder for us all. Never easy is it?

for ellie - how did the parents evening go? They're not really the place for much in depth discussion though, are they?

and for auntevil's GP - once you get a decent one trained up, keep hold of them! I'm happy to wait 10 days for an appointment with ours, because he does do what I tell him get things done.

How is everyone else?

Hi my dd is 8 and has EDS 3. Her knees have been causing her great problems over the last few months. They suddenly cause huge pain and she can't walk on them or put any weight on them. I think the knee cap looks like it has moved and a dimple on the side comes. We have taken her to A+E 8 times now but they don't do anything. I pushed for an othorpod to see her and I am so upset. he basically said it was all in her mind. he did some movements and said as her knees didnt moved when he did that there is nothing wrong with her. He even suggested she and i were lying. I'm very upset. he hadn't even seen an xray or anything.. he didn't listen to a word i sadi and was hostile to us. Is this usual?

auntevil Tell your GP I'll have a refferral to the recurrant miscarriage clinic thanks

Midnight Glad you and DD survived the uni trip. DH and I both have asthma along with EDS and DS3 probably does too but he is too young to be diagnosed with that apparantly despite being given an inhaler by the GP and needing it when he has a cold.

amy poor you and DD. I have had a few people saying that DS2's symptoms are all in my head but that was when he was a baby and before we knew he had EDS. I've also had it with me when I was a teenager.

Parents evening went ok. They didn't say much as the point of this first one is to say they are settling in and making friends which DS2 isn't really. She said he is more clever than they thought at first and seems to be doing as well as the others despite missing big chunks of school. He has his school entry review on monday so they will go into more detail then.

DS3 had physio yesterday and he is doing really well but she said DS2 is showing signs of arthritis and he needs a blood test when he sees the paed next month. I really hope it's not that as he already has so much to cope with.

thanks for the support. I've taken the bull by the horns and made a complaint about the dr. But i've also made appointments with dr ninis and prof Grahame. Had to go private though but it will be worth it if we get somewhere. Dr ninis had an email converstation with me and seems really nice. :)

ISWM - I think everyone with a connective tissue disorder is at risk of lung problems. Collapsed lungs are reported more frequently in EDS and MFS.

amy - Dr Ninis is lovely, she spent ages with us at our first appointment, told DD she didn't need to examine her as "everyone else has been doing that and you'll be fed up with it", and managed to put things into context (the niggly things you're not sure are connected, but may be). Prof G was not as chatty, but really really thorough (and pretty much diagnosed DD as she walked in the door ).

Turns out I may have scarring on my lungs, so I'm having a CT scan week after next, and the consultant wanted to see me again in 6-8 weeks - knowing NHS appointments I though "oh, well, it;ll be end of January then", but no, next appointment is exactly 6 weeks. Not sure if it's because the new hospital I'm going to is efficient (is that possible? ), or I'm maybe quite ill . Googling the things he was looking for as causes is quite scary (pulmonary fibrosis, interstitial lung disease)... But it does look like there may be a EDS connection, although why it's taken till now to be an issue for me is a bit odd.

I have lung issues - Dx as asthma, drug induced from reaction to NSAIDs but I doubt this is really it, I have always thought it is eds related! I take a particular steroid inhaler daily, and most of the time this keeps it under control, sometimes chest pain is very bad though, and then they say it is actually inflammation in the chest cavity, around my heart and lungs becoming inflamed and putting pressure on heart and lungs.

How is every one, sorry I have been AWOL, things ok, just been busy helping out at school and been applying for a job....I know I know, how on earth will I keep it all together....answer, probably won't

Amy unfortunately there are many parts out there, in the medical profession who will tell you that it is all in your mind, your child's mind....and have no compassion and empathy, and no care. I am pleased you have made a formal complaint, dr Ninis and prof G are they way to go, they will be able to help, get you a proper do, and develop a plan. They are well respected by their colleagues, so they will be ale to get you to a rheumatologist in your area on the NHL, rather than having to pay privately again! Good luck

Hello everyone.
Can I ask a question? Did anyone at anytime on their road to dx get asked about muscular dystrophy? DS2's new consultant seems to think that this is the line he is going to take.
Anyone with any info - greatly appreciated

Yes we have, we have had neuro-muscular investigations and MRI's to investigate. We are at the Evelina with Heinz Jungbluth for this. My son has spina biffida occulta along with his EDS and its more likley to be tethered spinal cord, but they need to rule out any other myopathy first. It is a case of ruling out one and then further investigation of all the others I'm afraid! xx

auntevil DS2 was tested for a whole load of stuff when he was a baby and one of those was a blood test to check his muscle enzymes. They were a bit high but not high enough for them to think he has muscular dystrophy.

not DD, but she's not a typical EDSer I don't think.

DS2 at the Evelina also, but with Dr Volanaki (sp). I like to spread my DS's around all the London hospitals - it's only fair!
Reading too much Dr Google and I found out that some mums are carriers and there is a list of little dot symptoms that you would really have to join up well to notice - such as a long ineffective labour etc

can i ask if anyone else has had a genetic test come back with a chromosme 2 deletion?

No, our issue is with chromosome 9 - I think (DH's side)

Just got an appointment through for DS 5 for rheumatology at Sheffield Children's Hospital. Does anyone know if they're any good?

ours is a 2p22.2

When I was looking at Dr Google a while back, I noticed that there are a helluva range of chromosomes that could potentially have an effect on collagen.Quite scary actually
Sorry sazale, I know Yorkshire well (South and North best mind - white rose, white rose ) - but just to visit, not for treatment.

Hi everyone, I was linked to this thread a while back after posting for advice on getting an official diagnosis for my 10yr old DD - HMS had been mentioned several times by various A&E doctors & her physio, but our GP was refusing a Rheumy referral - we got the referral after I started putting all my requests to our GP in writing & DD has now just been formally diagnosed with HMS & I suspect it is likely the true cause of my own health problems & my DMs too.

I have been on the HMSA forum, but to be honest it is really getting on my Ts, one over zealous moderator seems to have taken a dislike & it editing everything I post - first time I have EVER had that problem on any forum & I can't be bothered with it, lifes too short for dealing with tin pot Hittlers- I was also none too chuffed after having ordered something from them to have it arrive with our email & phone number in full view on the outside of the envelope

I'm wondering if there are any decent HMS/EDS forums you can perhaps recommend - hopefully with more realist rules/moderation.

DD has has a LOT of accidents over the last couple of years and HMS makes sense now, her fitness has been affected by the accidents, bar one, no real follow up or physio, despite her having various joints immobile for long periods, then of course her age, all make sense s to why she has gotten worse in recent years - daily pain, exhausted & more - breaks my heart that she deals with it too, when she is still so young -

She has taken the diagnosis badly, even though I handed the specialist a list of her problems, topped with a note that DD is a worry wort & that I felt the need to play down the diagnosis/questions as a result - the Doctor was brilliant, but DD still seems to have gone into depression & as a result set off a bad flare up of her IBS - I know she's a toughy, but its heartbreaking to see her so ill & down:(

On the plus side, we now have specialist physio to see & occupational health who can help with school, shoe inserts etc too & her school thankfully are brilliant, though I'm a bit scared of handing over the HMSA school info, as its very full on & though I know DD needs some help & they need to know what she can & can't do ( most of her over extension injuries have happened at school) I'm worried they will feel the need to wrap her in cotton wool, which will affect her state of mind more as she's very active & loves sport etc.

I don't know the details of her diagnosis as it was difficult asking questions whilst playing it down - I do know she scored highly on the Beighton thing, with many more joints involved than listed, she also scores highly on the Brighton thing too - the only joints not really effected are her knees - they click, but are thankfully strong, so the Doctor said she can still play football - her hips, hands, wrist, ankles, shoulders, toe/feet, spine, neck are all affected & she has IBS & a degree of stretchy skin, gets exhausted easily, but is thankfully very determined & stoic, so at least has the strength of personality to deal with her condition - small mercies & all that

I probably have loads of question, but don't know where to start, so just saying hi & can I join in

I do have one important question I could do with some advice on though?

DDs head has suggested I meet with the School Nurse to set things in motion for DD - meeting is next week, though I have asked for a postponement as until we see the physio I'm not sure I'm informed enough myself on how best to handle DDs condition - well I am, in that I deal with it as I do my own health problems symptom by symptom, but I don't know what to expect from the School health team involvement & I'm a bit worried about anything too zealous & SEN based might affect DDs state of mind, but at the same time I know she needs help as she does struggle with a lot of aspects of School - noise, exhausted weekends & needs to recover - time off due to raging IBS, accidents etc & not meeting attendance targets etc etc - though thankfully she loves school & she is very bright so it's not so far affected her education - which is a bit of a miracle in itself this last couple of years

What can I expect from School medical involvement ??

TIA

Hello Rockinhippy - and your DD
I totally identify with the many A&E visits and injuries that get a 'there, there' but no follow up or physio. Thankfully DS1s OT did the referral for us as his paed, GP, and A&E weren't interested.
As far as school goes, our school nurse is comparable to a chocolate teapot. School tends to help with OT for DS's dyspraxia, but have made virtually no comments in regard to tiredness, pain or IBS. He has meds for IBS, tbh, DS tells me if they have been given rather than the school.
Not much help here, but there are some on here who have schools that seem to do a lot more - hopefully they will be on soon

auntevil, my mum lives 5 mins from White Rose and I live 5 mins from Meadowhall

Hopefully they may be knowledgeable as I've read that Sheffield Children's has an EDS clinic!

HI ALL..and Rockinhippy..hello!

Well ..as usual been AWOL and am trying to catch up ..and cant remember all the things i have read to reply individually !! [embarressed] ..but I think I have bits of information which might apply to some or all !!!

Saw pead last week.....Vit D still low which can as we know cause the "bone"pain and aches and pains which he is complaining about more and more so back on supplements.

Blood cloting is still slow...haemotolgy(sp)...blood people !!! will now get involved to advise.

Genentics..."array CGH" normal ..but results sent to pead so don't know too much about that till I see him .

But she has recomended "amino acids and organic acids taken" ??

This is from a copy of the letter she has sent to pead ..I have had no appointment to disscuss things with her but she will see him in a year .

But on a good note...I have managed along with a fab physio and SENCO to get some exercises included in some PE lessons ,which are the same as another sen child....AND HE IS STARTING TO READ SOME THINGS CORRECTLY !!!!! He is still behind but he is getting a nice flow now with his reading ...hopefully things are clicking now !!

Oh and he scored a goal in hockey !!!!(indoors with sponge ball and sticks !!!! )

...oh but he fell over 2 days later and scraped/cut(bashed) his face up which took 3 weeks to settle before I could take him to the dentist to have his chipped front tooth "filled" ?sorted ...dont know how they do it but it looks lovely !!!....school phoned me to warn me "he looks a mess"!!!!

However my fingers are edging nearer towards the DLA form and finising it ?

I think i have got "formaphobia " !! ...just dont think i can cope with someone saying ..NO...to my little baby !!

Hope some of this helps...rockinhippy...school can help..if you tell/push hopefully

Take care all