EDS Discussion & Support thread

[Innocenta]

Following some talk about a discussion thread for EDS, here we go!

EDS discussions very easily turn into 'diagnose me please' or woo about less than proven connections to other issues, so let's try to stay semi on topic if possible? But that said, obviously all welcome and people can probably pick up good tips from more or less severely affected EDSers.

@Mykittensmittens @ClumpingBambooIsALie @MyOtherCarIsAPorsche @Bobbleballbags @BringBackCoffeeCreams @Fraaahnces

Just tagging a few definite hypermobility / possible or definite EDSers I'm aware of, but please feel free to tag anyone else!

Thank you so much @Innocenta

our story:
DH has no signs, but his family have multiple formal diagnoses. DD had no signs before but now at 14 she’s waiting for her formal diagnosis from a paediatric specialist we are seeing in July. Luckily a supportive GP who is already convinced. She is clicky, creaky, hypermobile, has come close to dislocating her shoulder more than once. doesn’t have a lot of muscle strength, has pains in her muscles at times. Her hands tire writing. She has no apparent heart murmur but this will be checked out further.

DS seems to have missed this. But he’s only 9 and her symptoms were not apparent until puberty struck.

I’d be happy for some support on this journey. I feel quite unsure at this stage on lots of things especially what I can do to help her.

@Mykittensmittens Early diagnosis is incredibly helpful in supporting her properly (this is early!), and a supportive GP is a godsend. I'm really glad to hear you have one in your / her corner because I think it makes a massive difference.

There is a fair bit they can do to treat symptoms which, in my opinion, are often undertreated in people who are at the mild to moderate end. I think there should be a lot more support and symptom relief to help people stay in that range!

Oh many thanks!

We have two 'definites' - which were very costly to diagnose 🙄

Plus quite a few possibilities - grandad, children, grandchildren.

It's important to know for sure because there are quite nasty health implications to be aware of.

I have know idea why doctors think that you should be kept in the dark and are reluctant to diagnose. It could potentially save your life to know all the signs and symptoms.

Zebras need to have some sort of medic alert in their person.

no idea 😬🤣

my predictive text knows me too well

I know some people wear medic alert bracelets, that could be worth considering? @MyOtherCarIsAPorsche

I don't because I'm never alone (unless there's some kind of crisis so maybe I should!) so there's always someone who can tell paramedics etc what is wrong. Also don't really go anywhere 😂

But I totally get why others wear them.

@Fraaahnces
we're on the same thread again 🥳

@MyOtherCarIsAPorsche of course I had to invite @Fraaahnces over here! 😊 If you remember any other usernames of EDS ladies, give them a tag 😉

I can across this thread yesterday - my 8 year old DS had done investigations for EDS when he was 4 but nothing definite was ever raised and never heard anything more about it! Is it hard to get a diagnosis for EDS? We had physio, heart scan. He is very hyper mobile, struggles with digestive issues, bruises excessively.

Oh, I have this. A rheumatologist diagnosed me a couple of years ago, does that count? It was quite a low key, quick process so I'm not sure it felt hard work enough to count 😂

It can be hard / used to be, but that applies more to adults, @Bobbybobbins . In your situation it's probably more that they're often reluctant to diagnose young children unless it's one of the types that can be 100% confirmed by genetic testing. Since your DS is still struggling you could definitely bring it up again; with the previous investigations it should be easier than starting from scratch.

@daisyjgrey haha, yes, of course that counts. We are just a bit wary of the 'I did a buzzfeed quiz' or 'my friend diagnosed me' sort of thing. But tbh anyone is welcome if seeking support or to vent.

Hiya. Dd is a definite EDS. I’m pretty sure I have it but have never bothered trying to get diagnosed. DD’s diagnosis seems to make no difference to any treatment so don’t really see the point.

Ah I see! I always seem to read about cases where it took years to diagnose and it was a proper slog and I said to my GP "I think I have this", she referred to rheumatologist and they diagnosed it and that was that really. Feels a bit like I cheated somehow 😬

Hello! I’m a hEDS diagnosed shortly after having DS. DS is 4 and very hypermobile and weak muscles so I’m mindful he could also have it.

@daisyjgrey I'm glad it was straightforward! You were clever to figure it out on your own.

Dd really struggles with symptoms. The actual muscular stuff she can live with (though in pain) but for her it’s digestive issues which are the worst. She feels sick or is sick most days.

Shes Been at the dr again a couple of weeks ago and given contraception which she never takes as she doesn’t like the side effects but never really says what they are, and given fibrogel. I’m worried she has some sort of gastroparesis?

she gets really heavy periods and is always vomiting round her periods, I do wish she’d take the bloody contraceptive pill as I think it might balance her hormones out a bit.

Hi @Twilightstarbright and @QuebecBagnet ! Welcome to the thread

Morning. Three generations of zebras here. I was diagnosed by genetics at BWH when pregnant, as was my mum who came along with me. My dd was diagnosed at 3 at BCH.
I’ve recent come off immunosuppressive drugs for a different issue so I’m having something of a flare up and dd is just starting puberty so also having fun and games.
Nice to meet you, I wish you all an abundance of spoons.

@QuebecBagnet Would your DD be willing to get a referral for her GI stuff? I have gastroparesis and a lot of other gastro issues, and gradually getting all that diagnosed / various meds has been somewhat helpful, if not a cure.

@daisyjgrey thats how we got Dd diagnosed. I took her to the gp and said I thought she had it (she scored highly on the beighton test at home). GP looked at me like I was bonkers but referred her and rheumatologist diagnosed her at first appt. (and POTS and fibromyalgia).

Nice to meet you too, @TheGonnagle ! While I'm personally not into the spoon stuff, I know it's really sustaining and helpful for a lot of people, so I absolutely wish you the same 🤗🥄🥄🥄 (I hope that shows up! Spoon emojis)

Replying on this thread while waiting for a consultant endocrinologist to call from my local hospital 🥺 I hate appointments!

Yes. But the GP won’t refer her back to gastro.

She’s been under them before as she has coeliac disease and they were fucking useless to be honest. I kept pushing after the coeliac referral saying something wasn’t right .We asked for a second opinion from a different hospital after Dd felt the first consultant wasn’t listening to her.

Second one ordered a colonoscopy but Dd couldn’t tolerate it so he discharged her saying there was nothing he could do if she wouldn’t have investigations. This was all before the EDS diagnosis though. But they seemed so rubbish I’d have no faith in them knowing much about EDS. I do think about trying to see someone privately.

@QuebecBagnet That is awful, your poor DD! I'm so sorry. I would definitely recommend seeing Prof Aziz privately. He can potentially then recommend the best person to keep an eye on her locally (not in the bad team she has seen before).