If you have been diagnosed with Ehlers Danlos syndrome ....

[InDispairThisWeek]

How did you get diagnosed and how do you cope with it.

We’re currently trying to get dd diagnosed but in current climates (CV-19) it is not easy.

She is hyper mobile and has constant pain in her shoulders, hip and knee, she was diagnosed with Chronic Fatigue syndrome 3 years ago and it still affects her a lot, she has stretch marks even though she has always been petite, she has a few atrophic scars and veins on her legs where the skin dips because it feels as if there is nothing under the skin (hard to explain), she has also been getting severe stomachs pains which has caused a few trips to A&E on the advice of 111.

We’ve been to the doctor who has referred her for a scan of her stomach and to a physiotherapist for her hyper mobility pain, but the doctor couldn’t diagnose EDS (I don’t think they knew much about it), so will the physiotherapist be able to diagnose it? We’re still waiting for both appointments.

How do you cope with the pain and fatigue, she’s just about to start A levels and I don’t know how she’s going to cope

Einstein - Dr Saggar is a great idea. Ds was supposed to see him a few years ago, but was too ill to travel, then we lost our health insurance when dh changed jobs, but I have heard really good things about him.

It’s actually oddly comforting to come across other people with EDS and PoTS on here, as it’s not something I’ve seen come up a lot of MN.

Thanks Einstein , I will do my best for her, it’s just very hard work sometimes when it feels you are fighting against the whole medical profession.

I see the warnings about the non-UK social media groups have already been said - phew, glad I'm not on my own with the 😳😳😳😳😳 about them.

@moosemama - it is, isn't it 🥰

Such a shame for our young people but very good to know they're not alone. I hope that EDS knowledge is becoming more widespread - especially in the medical community.

Good luck OP. Do try Dr Saggar - he's an excellent source of diagnostics.

You do then have to fight for other care within the NHS, but the diagnosis is obvs the starting point.

I often wonder if I had - I r had more than a dozen dislocations, but it has eased off with age.

My DD has dislocated a knee once and both thumbs.

So after reading this at the weekend I spoke to gp and she's referred me. I have done a list of possible symptoms and connections which is bloomin long. Some might be red herrings.

Main highlights are joint pain mostly shoulders, hips and feet. Dislocations as child. Partial dislocations as adult, frequent in big toe. Bunions. Fatigue. Gynae issues including heavy periods, multiple miscarriages, pelvic pain, muscle issues. Digestive issues including tissues, abscesses and skin tags.
Issues with gums and mouth ulcers.
Brusing.
Hypermobility was discussed at appts 20 or so years ago when I was diagnosed with a pars defect after a load of scans for back pain. It's mild though. I'm not what you would call double jointed, but have winged shoulders . I used to click my back into place often too.

Gp was already running bloods and iron a bit low as usual. Others ok.
I wonder how long referral is.

My dd was diagnosed at 7/8 years old by a geneticist on the nhs, I seem to remember it was her physio that referred her. It was quite a wait, about 2 years I think. To be honest the diagnosis hasn't made much difference, people either don't know what it is or think it's made up. I hope it has given her a reason / explanation as to why some things affect her body like they do though. She's 10 years old now. Symptoms first spotted at 6 months, hence the early diagnosis I guess.

@moosemama it's so nice isn't it?

I can't remember if I said but the POTS UK support group on Facebook is really good. I find US Facebook groups can be full of people selling snake oil cures which I'm not keen on- I listen to my doctor and the charities.

@CottonSock - that's great to hear that your GP is supportive.

I can't answer about the length of time for referral, unfortunately. My experience (through DD) has been lots of trial and error. The initial diagnosis of hEDS was a great start but actual 'help' or treatment was / is hard to find.

DD had a Tilt Table test at the Brompton to diagnose PoTS. Then various ECGs to diagnose other stuff.

When pain / associated conditions mean hospital, it's still A&E and still very poorly understood.

She does now have a team who are great but it was a hard slog to get there.

There is no gene test for hypermobile EDS but there is for other forms. It's worth doing if you can get it done.

Very good luck 🤞❤️🤞

My DS was diagnosed by Dr Saggar before his first birthday. Very traumatic as he nearly died. He had gene panel test and face to face consultation which led to type 3 diagnosis. As mentioned above he does private clinics.

Thanks for this thread. Booked dd in with dr Saggar in half term.

This exact illness and difficulty in getting a diagnocis was featured in the BBC2 programme 'The Diagnosis Detectives' this week OP.

The one you want is Episode 2 and the story of Katie: www.bbc.co.uk/iplayer/episode/m000mffq/the-diagnosis-detectives-series-1-2-neil-and-katie

rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome#:~:text=Criteria%203%3A%20All%20these%20prerequisites,to%20poor%20muscle%20tone%20(%20hypotonia%20)

This has criteria for diagnosis.
I hope she doesn't have it - good luck.

Anyone had amitryptiline for neuropathic pain and eds? If so did it help and how long did it take to work?

Dr Saggar was lovely. Definitely recommend to others. It is hypermobile eds and POTS 😔