EDS Hypermobility

[SparkleRainbow]

I thought I would start a thread to see how many of you are out there, fighting the battles I am fighting. I have EDS myself, had genetic counselling and even though mine is quite severe I was told no problems with having children. I have three dc, the eldest my ds is the only one believed to have inherited it. He was diagnosed by Prof Grahame at 19 months, and has always had pain, but it wasn't until September last year that he dislocated vertebrae in his neck C2 and C3 by turning his head to talk to me. He has been in recovery ever since. In the last 11 months he has dislocated or subluxated his neck twice, his knee cap three times, his left shoulder three time and the fingers of his left hand once. He has missed so much school, he is in pain almost constantly, he has a health plan and risk assessment to be in school, he is depressed and frightened and he doesn't know at all how serious his neck problem is. I am constantly fighting with some of the Consultants, and school, but there are also some wonderful people too. I would love to hear others stories, very selfishly to know I am not alone and neither is my precious ds.

Well done to you ariane5 - a pass is a pass, don't knock it.
I always find that i get weepy only at sad things i hear/see when PMT time. The worst aspect I get is very angry and grumpy. I usually find that I lose my temper with one of the kids, or DH!
I had a weird appointment with a GP the other day. I took DS in for something completely random. He ended up insinuating Marfans . He didn't say it by name, but as a googler I recognised the symptoms he was going through. It was really random - he was a locum that had never seen DS before. So what do I do - go onto google ( I know I shouldn't, but I do like to find things out ) .
Note to self - stop googling.

Auntevil -Deepbreath is very knowledgeable about Marfans, her dd and dh both have it. I think I remember reading that her dh was a fairly "late" dx. I will catch her on fb or pm her for you, and ask her to pop over. She will be able to help you a bit, without the need for google, and perhaps talk you through some of the conditions more obvious dxable symptoms.

If she is not around, or able to help, then I would go back to the gp and get that referral to a rheumatologist, they will be able to dx btw marfans, and EDS and BJHS.

Is there any marfans anywhere in the family history?

Don't stop googling, but give yourself a severe talking to before and after, so you can put it in context

Imagine a sparkly one of these to celebrate your theory test ariane! Well done you, stop knocking yourself over the margin by which you passed, after all most people driving today have never had to sit a theory test (including me, showing my age ) You are under so much pressure, I think that some tears and not only inevitable but probably essential. Having said that you sound very down, do you need to go back to the gp and reveiw antideps, or more counselling....you are in for the long haul here and perhaps it will help, you know I think sitting in on ds' psychologists sessions has helped me cope with his eds, and maybe helped me see eds as part of me, and not just as a monster in the corner. I think I am just coming out of postnatal depression myself, not major but there, and I find dh's depression very hard (it is getting bad again at the mo), and quite frankly depressing, so I really do understand, I don't know if that helps?

I just came across this research paper
Joint hypermobility and genetic collagen disorders: are they related?
which provides these useful tables
Clinical spectrum of Ehlers-Danlos syndrome
Clinical spectrum of Marfan?s syndrome
Benign joint hypermobility syndrome
Nine point Beighton hypermobility score

my dd was checked for marfans when she was 3 they were concerned as she had pectus excavatum so they sent her for a heart scan and checked things like the roof of her mouth(?) and her eyes.apparently when my ex was a child they thought he had marfans,investigated him for it and said he definately didnt have it and that whatever he did have was NOT a genetic problem and he could never pass it on to any children he would have.

My driving lesson yesterday wasnt too bad i felt a bit better than usual so maybe iam getting used to it, i think i just know how much it could change my life and would mean im not relying on my ex as much,although its nice that he helps so much sometimes it is awkward that i still am relying so heavily on him.

I think my tearfullness probably does have alot to do with pmt and also the gp stopped my citalopram as she said it could make my stomach ulcer worse so i had to come off it a bit quicker than id have liked to which probably hasnt helped with my mood.

Got ds dla renewal form the other day and had a tearful evening filling it in, it happens every time its horrible having to put it all down in black and white and seeing how bad things are, i seem to 'forget' day to day but when its all down on paper it seems so much worse it really upsets me

That is actually quite weird ariane5. DS3 - who has swallowing difficulties was seen at GOSH recently and one of the comments was that they were not 100% sure on the roof of his mouth and were going to check it out better when he was under anaesthetic. This is not the DS that has hypermobility.
You will get more and more comfortable behind the wheel. When my dad died, my mum had to do all the driving then and her reversing and parking was woeful (she would have described it like that herself). She used to phone my older brother and ask him to come wherever she had parked as she couldn't get it out. She refused to drive in the dark and the speedo never needed any numbers above 30 . Before she gave up driving, she had driven on rough roads in peru, to the other end of the country - at night - and for 7 solid hours.
for the form filling - but it has to be done. I can't read a letter I wrote to OT about my DS without welling up. It brings it all home again that this is the reality - but look at it as the excellent strategies that you all have in place for making day to day seem 'normal'.
I've decided to give up googling (big lie there ) and dolfrog instead. I can just see the paediatricians face when i say i've been 'dolfrogging'

Ooo lovely new verb, "dolfrogging".....she is amazing isn't she!

I wonder what they were looking for on the roof of the mouth....a cleft palete?

Ariane, well done for coping with the driving lesson, you are doing incredibly well, especially considering you have had to come off the citalopram as well. You are amazing. I am sorry you have to do the dla renewal, it is horrid thing to write it all down big and piece of cake, first. Do you have a copy of the previous successful form so you can have a starting place? Remember worse day explanation, that is where I went wrong.

yes i still have the old form and nothing has changed, its awful to see that in a couple of years he has got no better i filled the new one in then went and read the old one and it was virtually identical so i hope it all stays the same, but with dla you never know i think it depends who looks at your claim. ds consultant is filling in part of the form for me then i can send it off. current award doesnt end till jan but they said it takes a while to process so i have to it now.

If it does remain at current level and i do pass my driving test at least i could get a motability car which would be wonderful (if not then i wouldnt be able to afford a car so fingers crossed), it would make such a difference to our lives.

I have my fin gers crossed for you, I think they won't go against the consultant's opinion, so hopefully it will just sail through. A car would make your pain levels so much more manageable. Have you thought of applying for yourself too?

Hi, sorry I haven't been back for a few days. Dh and dd have had a few health problems so I have had my hands full here.

A couple of you have wondered about the significance of looking at the roof of the mouth, and the doctors do it because in Marfan Syndrome, it is very common to have a high arched palate (not a split/cleft). Eg, dd could not take to breastfeeding and had to have those small, strangely shaped NUK bottle teats. The roof of my dh's mouth is unlike anything else that I have seen, he wouldn't be able to get a finger in there (not that he would want to!)

As a result of this, people with Marfans tend to have hypercrowded teeth and sometimes have to have teeth taken out. There can be issues with swallowing, and sometimes food can get stuck. Dd was very anti lumpy foods when she was younger, and there are still things now that she avoids.

That said, I know of children with other CTD's that have problems with swallowing too, so this isn't just linked to Marfans. Dh is having GERD/GORD type issues too at the mo, which is new for him.

Auntevil, please give me a shout if there is anything that you'd like to ask about Marfans, I might not be an expert but I know a lot of people that have it.

Ariane, congrats on passing your theroy test! Good luck with the DLA/Motability stuff.

Thanks dolfrog, I'm going to have a read of those articles.

Btw, thanks Sparkle for giving me the heads up on the "other side" (Facebook!)

My mum has said to me a couple of times that i should apply for myself but i dont know if im unwell enough to qualify, i mean, yes iam in a lot of pain most days but i manage to push a big heavy double buggy and walk a lot through necessity so i thought probably i wouldnt qualify for it? I am in pain but i can push through it whereas the dcs cant seem to so i always thought i was stuck somewhere in the middle-not healthy and yet not disabled??

that said the way iam going iam finding i have to push myself that bit harder each day and i have this terrible worry that at some point in the next few years it will all get the better of me and then i will not be able to do anything (got that bad when pregnent with dd1 literally couldnt move, at all but i was extremely lucky it improved)

SparkleRainbow

My DW (Mrs Dolfrog) likes your comments lol

I have been dolfrogging and you might find these research paper collections useful.
Ehlers-Danlos syndrome (EDS)
Joint Hypermobility Syndrome
Marfan?s syndrome

Sorry if I muddled genders of dolfrogs I dolfrogged your research papers yesterday, some very interesting bits of research all in one place....thank you. I haven't forgotten about EDS links for you, just not been able to get my thoughts together yet.

Ds woke up with a dislocated shoulder this morning

oh sparkle your poor ds, did you have to go to the hospital or did it pop back in? even if it did i expect it is still sore and swollen, my ds fingers and hand swell up terribly when he dislocates. hope you are ok too, its horrible when it happens and it looks scary too iam always a bit green when ds fingers/thumb are out and they look very strange indeed.

hope the rest of the day is better for you and ds

It popped back in, not so much swollen, but very sore, and reduced mobility as a result. I didnt take him anywhere, just popped his arm in a sling, which we have to be a bit careful about given how it increases the pressure on his neck.

I hate it when a joint looks like it is pointing in the wrong direction

yes, it really does look horrible i remember the first time ds did it to his thumb (fell out of a little playhouse window and landed on his hand!) it looked awful and i nearly fainted i just couldnt believe how odd it looked, iam a bit more used to it now although its always horrid seeing them in pain.

ds fingers usually take a good week to feel 'normal' again and he doesnt like to move his hand much afterwards for quite a while, he has some exercises with threaputty now to try and strengthen his fingers and hands.I hope your ds soon recovers from it it must be an added worry about the pressure on his neck,could you somehow bandage it going round his upper chest a couple of times then up under the armpit and round the shoulder and top of the arm to keep it in place a bit but not put pressure on his neck? you could even then go back over round the top effectively 'pinning' his arm to his side which would immobilize it but not hurt his neck.

Do you know that is an excellent idea, and I have never thought of doing that , thank you, I will have a hunt through our bandage drawer and see what we have. Thank you

Hi everyone, sorry it's been a while. Ariane, well done for passing your theory test. Sparkle, I hope your ds's shoulder heals soon.

DS3's microarray test results came back. He has some extra bits of chromasones but now there is a 3 month wait to talk to the geneticist about what it all means.

How frustrating! How is he doing?

He's doing ok. His development is on the low end of normal and his weight is ok now that we are pouring loads of high calorie milk into him. He is still puking but being on solids has helped.

Hello everyone, I've not been on here for a while, just lurking!

I wanted to comment on the blue lips/being cold. My three DC are just the same, especially DS. He gets very cold very quickly, goes white, and his lips go bright blue/purple alarmingly fast. Public pools are just too cold, and he can only stay in for a few minutes before his teeth are chattering. The same for the paddling pool, even in the hottest weather with warmish water. And then they take hours to warm up again, despite being dry and wrapped in warm blankets and drinking hot chocolate.

I have bought them all shortie wetsuits, which has meant the can stay in the water for twice as long as before I first got them second hand from ebay three summers ago, not realising what a difference they would make! This year I splashed out and got them brand new ones, they wear then every time we go to the beach, and they make such an amazing difference (and protect them from sun burn at the same time!) I haven't been brave enough to take them to the local pool in them though....not sure if wetsuits are acceptable in the pool

DD is also cold all the time, wears big jumpers, huddles under blankets, etc. and DS dosen't seem to feel the cold like everyone else - he is cold when I am hot and vice versa. He gets clammy and very out of breath when running around (not asthmatic) and takes along time to recover normal breathing rate. And he gets cold when eating...he has to put a jumper or coat on. He often falls asleep after eating too. I have also noticed a salty smell on him, like the sea, after he has been exercising. I am going to ask for all this to be investigated as the only heart checks they have ever had are 30 seconds with a stethoscope, and circulation problems have been swept under the carpet.

DS also has migraines (runs in the family) and gets a lot of pain in his neck, eyes and forehead with them. It has been blamed on his neck muscles being weak and tired from supporting his head.

His eyesight has got worse again recently, he is now going to have two-monthly sight checks, as they think it is going to go downhill again. This is worrying me more than the HMS at the moment :( because he is already incredibly short-sighted.

We've had some good news for DS (well, good in a double-edged sword kind of a way) he has finally, after 4 years of no progress at speech therapy has had a proper assessment done. He has a Severe Phonological Speech Disorder. It is nice to have a name for his speech problems, at least when people hear him attempt to speak and don't know how to react I have a name for his problems. Even though it will be a long hard slog to get DS speaking properly. Also, the speech therapist thinks that it is nothing to do with the hypermobility syndrome, and probably just bad luck that he has both.

And, at last, after three years of fighting and a year of 'lost' appointments and referrals, DD2 has got Piedros! They have made an amazing difference to her ankles already, she is falling over less and seems more confident on her feet! Does anyone else's children have problems with blisters and very sore feet at first though? All three of mine have blisters/raw patches and red feet for the first 2-3 weeks.

I hope everyone ( and their children!) is having a good summer

MrsVictorUbogu

You may find that "Speech Sound Disorders: Articulation and Phonological Processes" provides some useful information

Thanks, Dolfrog. Great article, it is a good to print out for friends/family. I found this link particularly good before DS was officially diagnosed (I had already worked out what speech disorder he had, but his therapists had never assessed him for anything before) and this table shows his problems, although he mixes all those problems in to each word, so not quite that simple unfortunately!

MrsVictorUbogu

There is a possible problem of terminology between the various countries, the link I posted comes from the USA and Caroline is in Australia, and we are in the UK. With newly recognised issues it can take quite a while, decades lol, before we have a globally agreed names and terminology for various conditions, even though the various parties are describing the same or similar issues. All down to different cultures and different research backgrounds.

I have had a link to Caroline's web site on my own site for may years now, have a look at My Favourite (C)APD Links (look for the Koala)

So, Dolfrog are you telling me that a phonological disorder is an APD?

It has taken me four years to get SALT to assess DS or commit to a diagnosis, APD has never been mentioned, although Verbal Dyspraxia was. I am fairly new to all these terms/diagnoses , as DD2 had the same speech problems as DS but did well with speech therapy and although she still has some problems, mostly people can understand her and she is now reading fairly well....it was assumed DS would be the same. But, he never made progress and is still working on the same two sounds without much success.

Great site by the way, I've bookmarked it for a good read later!