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genetic counselling for EDS

(10 Posts)
GreenGoth89 Thu 30-Jun-16 08:41:07

I've just been told that there's a chance I have EDS (ehrlers danlos syndrome - a type of hypermobility which can cause life changing problems), I haven't been for genetic testing myself yet, so I have no idea if I'm being really silly or even what type I may have - some types cause joint stabilisation issues and pain but not masses of other issues and some type cause problems with the heart and such. I've not had any heart problems so I doubt I have that type...but I know several people who have decided not to go for a baby because of the chances of passing on the more deadly type - although most people still have fairly long lives with it I do know it causes a lot of pain. Will they do genetic testing on the NHS for both me and my partner or is this something that I'd have to go done elsewhere?

OvariesForgotHerPassword Thu 30-Jun-16 12:27:28

Hi smile I have EDS. Genetic counselling should be available on the NHS if you request it, once you've got a diagnosis. My family all have EDS - the specific type isn't known yet but it looks like my dad and my brother and sister have hypermobility type (type 3) whereas my mum and I are more classical presentation (type 2).

Unfortunately I do seem to have passed on EDS to my daughter, but I think unless you have vascular type (type 4) or struggling to deal with type 2 classical, it wouldn't really have a huge impact.

80% of people with vascular EDS have a serious heart issue by the age of 20 I think so generally if you had vascular type you'd know by now. That's the type that causes serious heart problems. Classical can cause some problems - I had a serious bowel obstruction that appears to have been caused by EDS - but again, that can be diagnosed by genetic tests and classical has much more skin involvement as well as the usual hypermobility. Most people with EDS have type 3, hypermobility.

Your GP is able to request the blood tests for type 4 and type 2 - if you want a definitive answer as to your type, a geneticist is your best bet, and you can ask your GP for a referral to them.

GreenGoth89 Sat 02-Jul-16 21:20:35

My GP is still yet to receive my notes 12 weeks after I've moved and isn't willing to do anything until she's seen them, but I shall ask once they've been seen.

Owlytellsmesecrets Sun 10-Jul-16 17:10:53

Both me and DS2 have EDS type 3. It's not caused me many problems as yet (39). Odd hip pop out and ankle injuries. Sometime back injuries but I do lift DS2 who is 7.
My DS2 has severe disabilities and arthrogryposis so with the EDS on to of that he has a hair when he walks.
DS1 and DD have hypermobilty Syndrome but not EDS. DS2 needs orthotic insoles and hand splints for writing. DD is a little pigeon toed but will out grow apparently.
DS1 and DD have normal lives he plays rugby, she does ballet. At sports day DD came first in every race and DS1 had a 1st & 2 2nds.
I do have a friend who is 41 and has type 4 and has had a couple of crisis' both her DS's have EDS type 3.

elliejjtiny Sun 10-Jul-16 17:20:34

There isn't a blood test for EDS type 3 it's based on clinical symptoms. I have hypermobility type EDS with a few extra skin issues too. 4 of my 5 dc have EDS too.

BeyondVulvaResistance Sun 10-Jul-16 17:20:39

The trouble is, a lot of people have EDS with no identified gene causing it. So it will be difficult to screen a foetus for, and could even provide a false negative result. And of course there is the massive variability in how an individual is affected even if they do have it.

A diagnosis for yourself would probably not rely on blood tests but family history, even (number off the top of my head) 20% of people with EDS1 don't have the theorised affected gene. A positive result for eg EDS3 (most prevalent) will mean that there is a risk with every pregnancy that your child would be affected as EDS3 follows a dominant autosomal pattern.

BeyondVulvaResistance Sun 10-Jul-16 17:22:50

Who has told you there is a chance? Ime you first need a referral to a rheumatologist to confirm a hypermobility syndrome, and from there a geneticist if there are reasons to suspect it is a genetically inherited one.

GreenGoth89 Sun 10-Jul-16 17:41:26

I was told I had chance by a doctor in A&E after sublocating my left sterno-clavicular joint, I was told I am hyper mobile but there was no more said by the rheumy (this was after a chronic pain syndrome diagnosis). I've recently moved areas and it seems like the level of care here is very different (higher) than it was where I was before.

roxy19 Fri 07-Jul-17 18:00:22

Can you have 2 types of EDS? My DH's family has type 3 and our daughter has been diagnosed with hypermobylity and under investigation for hEDS, but she was born with quite a few critical heart issues. Our paediatrician doesn't know much about EDS, gp doesn't believe in EDS so really no medical person can give me clear answer

NC4now Fri 07-Jul-17 18:03:51

The most common type, hypermobility, doesn't have a genetic test. I have that.
I don't think there's a big rush on it. If you had vascular it would probably have emerged by now.

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