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EDS.

(10 Posts)
dawndonnaagain Tue 13-May-14 10:03:45

Okay, we have a referral and are going to see the consultant in two weeks time. What do I need to know, please. I'm hoping her hands will clearly demonstrate that it's a wee bit more than hypermobility, looking at various websites would suggest she has 'classic ehlers danlos hands'.
I've included some pictures I've taken, and would really appreciate advice and opinions. Thank you.

meditrina Tue 13-May-14 10:14:52

Is is one of the websites you have visited?

https://www.ehlers-danlos.org/

They say they have both phone and email support - so perhaps you could try them for advice on things you need to ask your consultant?

dawndonnaagain Tue 13-May-14 10:24:11

Thank you. I have taken some notes from there, but stupidly didn't see that I could ring/email. Will go back and check properly! blush

unweavedrainbow Tue 13-May-14 12:42:30

I have EDS classical type type II. I was diagnosed by a consultant last year after years of joint problems, gastrointestinal disturbance, sleep issues and so on and so forth. The problem with EDS is that everyone presents differently. For example, I'm only mildly hyper mobile, except for my hips, but her hands in those pictures look very hyper mobile to me. We could both have EDS. Is there any family history? Pretty much everyone in my family has some degree of EDS. Have you spoken to HMSA? www.hypermobility.org

dawndonnaagain Tue 13-May-14 13:58:17

Thank you unweaved. She has gastric problems (ibs type symptoms), menstrual problems, sleep problems as well as continually subluxing wrists, thumbs, etc and going over on ankles, knees turning wrongly, hips hurting and moving. I had another thread a while back, we have been seen before, but the chap just dismissed us saying she's a flexible teen and all teens are flexible. Despite the fact that the whole of the rest of the family is flexible and her grandfather had EDS!
Grrr!

unweavedrainbow Tue 13-May-14 14:29:55

It sounds very likely she has EDS, especially if there is a positive family history. Some consultants are reluctant to diagnose as it's so rare that many have never seen a case. Did she not get another diagnosis? JHMS or something? Does she get much pain? They don't like leaving joint pain in children unexplained. I presume that she's had all the requisite blood tests? If you're close enough you could ask for a referral to the hypermobility clinic at the UCHL in London. They do take GP referrals if the consultant is being difficult.

dawndonnaagain Tue 13-May-14 15:22:49

We're seeing a rheumatology consultant in a couple of weeks. She does get pain and she's constantly shattered. Last time we went she was 14 and I felt it was best left, but she's always tired and bruises easily, so I wanted it checked out. Saw the GP who in all fairness was shocked at no diagnosis when she saw her hands, she arranged blood tests which were clear, (don't know what she checked other than rheumatology markers and iron levels), but she's 17 now and struggling a bit with everyday life. She needs to sleep when she gets in from school, she scars easily, she is always bruised and she needs a plan to get her through the days.

unweavedrainbow Tue 13-May-14 16:14:24

That sounds like you should definitely push for a diagnosis. i hope you don't mind me asking, but does she get any benefits? Is she still at school? It sounds like she could qualify for ESA and PIP. I get both of them and am pretty much disabled. I'm still pushing myself through a degree part time though! I'm only 24 and get very similar fatigue to your dd-I often found school excruciating, it was just so painful and made me so tired. Do you have an adequate pain management plan? I take 30/500 cocodamol round the clock and tramadol when needed, plus anti inflammatories, but i know that GPs can be reluctant to prescribe decent painkillers to children. Maybe, after you've seen the consultant you could ask to be referred to a pain clinic?
One other thing (sorry for the mamoth post!) does she see a physio? If not, that's something you could really push for. I found that seeing a physio regularly who knew what they were doing, plus hydrotherapy was the most helpful thing smile

dawndonnaagain Tue 13-May-14 17:10:46

She takes paracetamol and nurofen. Because of A levels she is reluctant to take anything else at the moment, also she has AS, so we don't know how she will react to other medication, people with AS tend to process medication differently.
She does get DLA, which will be PiP next time, but only lower rate mobility, I suspect that will change as things are becoming increasingly difficult for her. She had a good day at school today, did afternoon only, but still she's gone for a sleep.

Becca19962014 Wed 14-May-14 23:13:57

I have EDS and was diagnosed after 30 years of symptoms, I now have severe osteoarthritis as a result, but despite that my knees still severely sublux, though they are so swollen everyday that shouldn't happen anymore.

I've had many doctors where I live tell me it is meaningless, there is no pain and my joints just move lots so ignore it and that's after being diagnosed by a specialist. I've now been discharged from all consultants as it is not treatable.

I went to the specialist unit in London but it was really really hard to get a referral there, the consultant was lovely and told me I have it in all joints, it works on a points system and they look at far more than joint movement. It depends on what strands of collagen are effected (I can't remember which are for me).

I'm having massive benefit problems as I no longer have a physiotherapist (physio can help but needs to be done by someone who understands the causes as things they commonly suggest like for example muscle strengthening exercises can actually make the joints worse due to the defective collagen) or consultant.

I hope she can get some help with living with it at least. I will admit I struggle to live with my mine since it has got so much worse.

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