Ehlers Danlos Syndrome - dc on verge of being diagnosed and I am scared

[Loveneverfails]

They think DC has EDS.

I don't know what the long term prognosis is for this tbh and have been given little information.

Please tell me it will all be ok!

[Loveneverfails]

Does EDS ALWAYS show up on genetic tests as that is what we are being sent for?

[Loveneverfails]

as they say it doesn't rain but it pours my friend!

The good news is - its a different child. If that is good news

[Mrsrochesterscat]

It depends on what type. Our family had one of the milder versions (they've changed the naming of the types so I am unsure, I think it is now called Type II).

We dislocate a lot and haemorrhage because my blood vessels do not contract properly (so I am treated like a haemophilic) occasionally I have to take tranexamic acid for heavy periods, but not often. Sometimes I have an injection to improve clotting. I ache daily, and doing things is tiring. Pain relief doesn't work effectively (one for the dentist to remember!) and you must be very careful to keep teeth healthy, as the gums are more likely to recede. But otherwise life is no different. It helped in many areas, I excelled in ballet and gymnastics!

Regular swimming was recommended as it improved the muscle strength around the joints with out putting too much strain on them.

There are some types that can have a serious impact on life expectancy. I am not sure which one though.

[Mrsrochesterscat]

Apologies for all the typos - I am on the phone, on a bouncy train!

[Loveneverfails]

Aw

I am not sure which type tbh.

He bruises massively, with stomach probs and growing pains.

I am worried as two of my mums brothers dropped dead with bleeds. I am worried it is the vascular type. and they had it and did not know.

we are going for genetic testing, well dc is.

[Loveneverfails]

ps yes suspicions x but never dream that odd wee problems will add up to anything syndromey (or I don't!)

[unweavedrainbow]

I have EDS type II badly. i can't work, I use a stick at 24, I'm dependent on pain relief which doesn't really work and I bruise and bleed. However, I'm also happily married, doing a degree and have a very fulfilling life! Lots of my family have it, most much more mildly than me, and they live completely normal lives.

[Loveneverfails]

thanks unweave

can I ask what were you like as a kid?

[unweavedrainbow]

Of course you can as a child i was clumsy. i have extremely poor proprioception as part of my EDS and so I was always falling over. My EDS also means I scar really easily, and so my legs are covered in scars where I had fallen. i was in a lot of pain as a child. I wasn't diagnosed till adulthood, so my pain was put down to being "double-jointed" and growing pains when in fact i was subluxing and dislocating. i was born with hip dysplasia so people put pain down to that to, although I think the two conditions are linked. I also had lots of stomach problems which was diagnosed as IBS, but which is now thought to be part of my EDS. I also had headaches, which they now think might be a chiari malformation (has your doctor mentioned this?). I started my periods at 13 and, as I bruise and bleed really easily, they were incredibly heavy. Basically a bloodbath. I now know it's because I struggle to clot properly. At the time it was really difficult though. Despite all this I actually had a perfectly happy childhood . My EDS is somewhat degenerative and it is has definitely got worse, but I don't think this is always the case, and, as I said, my sister, for example, also has EDS and the only real issue she has is the proprioception, so it isn't necessarily always the case that you have to have it as badly as me .

[Loveneverfails]

Thank you

Food for thought for me!

Did a geneticist diagnose you? (all) or was a clinical daignosis made.

[unweavedrainbow]

I was diagnosed by a rheumatologist. They thought I had some sort of arthritis and put me on the highest dose of the drugs for that, but they didn't do anything. He then had a bit of a lightbulb moment and started asking me questions about bendiness and stretchy skin and scarring. He then diagnosed EDS and referred me to a geneticist and physio who confirmed. My family were all then diagnosed by the geneticist. My local hospital has very little experience with EDS, though, so I'm on a waiting list to see an expert in London, who can apparently advise OT and physio to help me more. The waiting list is very long though!

[elliejjtiny]

I have EDS and so does DH. Some of the DC have been officially diagnosed with it and others not but it's fairly clear they all have it to a degree. DS1 and DS5 seem to have it mildly while the others are more severe.

[Loveneverfails]

Thanks for chatting to me.

Its the vascular type which worries me most actually the vascular ruptures

wonder if geneticist will test us all

or only child in question?

[unweavedrainbow]

www.annabelleschallenge.org/vascular-eds/

This is a very good page about a little girl with vascular EDS. Vascular EDS is much, much rarer than either classical or hypermobile EDS. It's likely that if there's is any chance at all that it's that they'll refer you to the rare EDS diagnostic people in Sheffield. I think vascular EDS is diagnosed via biopsy, so they'll do the affected child and then determine whether it's worth biopsying the rest of you depending on your symptoms? Genetics will be involved definitely. Does your dc have any of the specific symptoms of vascular EDS ie. elfin facial features, very thin skin, lobeless ears etc? Is there a history of early death in the family? If not it's unlikely to be the case, although I'm not an expert. Even if there is, it's not necessarily vascular EDS as heart problems can occur with any type. Unmumsnetty hugs

[Loveneverfails]

I kind of wish they would refer us as two of my mums brothers dropped dead from aneurysms (no one knew why) and I am concerned that they had vascular EDS and did not know.

Don't know if they are too far away relatives tho? (my blood uncles)

[Loveneverfails]

he has ear lobes though

and I can't tell re elfin features, i would say yes but maybe just his look?