Does anybody know anything about Ehlers-Danlos Syndrome?

[trashcanjunkie]

I have joint hypermobility and recently have felt like I'm joining up dots and reaching conclusions. Seemingly unconnected quirks of 'me' such as muscle weakness in my thighs, extreme fatigue, weird shit that happens to my shoulders if I try to lift a full kettle sometimes, varying stamina levels despite being a fit active person (albeit a rather hefty one right now, and not particularly able due to an ongoing ankle joint problem that just won't go away)

Are there tests available on the NHS to diagnose? How normal is it to identify with a range of symptoms from several of the different types? (mostly the kypho type I think....)

Or am I just being a hypochondriac?

Hi, there's some sort of test like a checklist you can do, can't remember what it's called.

My Daughter is hyper mobile and may fit into a diagnosis but is too young.

She has other autoimmune stuff too.

Hi there - I have EDS as well as POTS and you're talking about the Beighton and Brighton scales, which while telling can be low and you can still have EDS. There are six main types. There are two charities - EDS UK, and HMSA. There is also a European forum, RareConnect, where I am a volunteer moderator.
All have lots of information. The bad news is, not many GPs know anything about it and there are long waiting lists unless you can go private.
I have had it at a low level all my life (I'm 46) but it blew up last year and I now have to use a wheelchair and take strong painkillers (Tramadol) just to get up.
My son also has it and people can be affected to varying degrees. Do your research first before you go to your GP - be informed so you don;t get fobbed off! Good luck!

Ideal thread

Is it easier just to get a private appt via the hypermobility clinic in london than try to convince the gp?

ehlers-danlos.org/news/medical-news-research
www.thehypermobilityunit.org.uk/
www.nwlh.nhs.uk/services/EDS-national-diagnostic-service/

Hi my DD has EDS Hypermobility type diagnosis & yes was just as you describe like joining the dots & suddenly having an answer, though took a battle to get a referral & diagnosis -

I have a Fibromyalgia & M.E. diagnosis along with a list of other stuff that fits perfectly with EDS too - awaiting my referral after a battle with my GP - I accepted a referral to the Spine Clinic instead, which turned out to be a good move as they agree & have written to my GP insisting I am sent up to London to see a specialist at Dr Grahames clinic at UCLH in London -

The links Ethel has given you are good, but also look for HMSA -( sorry I can't link on this ) - there are blood tests too, but these are genetic tests that look for gene defects - but from what i understand these are only done either privately, or if an EDS specialist sees other symptoms that make them suspect a different type of EDS

Ask on the UK forums for who is best to see in your area - you need to see a rheumatologist, but it needs to be one that understands the condition well - lots don't & can be very dismissive

Good luck

rheumatologists are split between those who will call it EDS hypermobility type and those who will call it Joint Hypermobility Syndrome and the two factions won't speak to each other. I think they're happy enough with the other types, but hypermobility seems to cause a kerfuffle amongst them.

Sometimes physios can be of more help in explaining what's going on and how to manage it than the consultants.

ehlers-danlos.org/useful-info/ehlers-danlos-syndrome-child-protection-concerns

The EDS NHS national genetic diagnostic clinic is of the opinion they are treating both the same. At the recent EDSUK conference, the Genetic clinic spoke about the importance especially for CP concerns to get a referral from your local genetic department to their clinic.

Thanks guys. I had an appointment with my GP who had heard of it. She was really lovely, and listened to all of my babbling. She's referring me for specialist diagnosis at the hospital. I will check out those links. I'm so fucking tired right now I can barely see straight, but will try to absorb all the different excellent bits of advice!

I was diagnosed a few weeks ago by Prof Grahame at St John and St Eliz. Any questions feel free to PM me. Xx

ooh right bigbadmom will do xx

Prof Grahame diagnosed me many many years ago (shit, over a decade and a half now!) at a private clinic.

EDS HMS and the usual marfanoid habitus that goes with it all.

Things I've always thought were seperate are now making sense to be part of the condition - such as acid reflux my whole life since birth with no explainable cause or treatment

Twighlightsparkle you're daughter is not to young!