Ehlers-Danlos Syndrome

[UncannyToad]

My DD (mid 20s) has recently been diagnosed with POTS and is now being assessed for various other co-existing conditions. She’s got an amazing consultant, so the process seems smooth. And quick.

He’s tentatively suggested she has EDS, or at least ‘definitely some other connective tissue disorder’(?)

EDS is hereditary, I believe?
I have the opposite of health anxiety, but this has intrigued me - I have quite a few pointers / symptoms, but figured that’s just how my body was / is.

Is it worth me getting on the rollercoaster of diagnosis? Or, as I’m inclined, ignoring it as I have done for several decades!

If dd gets a genetic diagnosis of a confirmed eds yes
If is hms with no as yet gene alteration only climical then carry on as you are

Some eds have a blood test gene alteration confirmation
The wider hms type is on clinical picture

Hi op. I found out I was Hypermobile last year at 47 at my physio who was astonished at how far my knees bent the wrong way!

I then mentioned it to my brother who at 44 is being assessed for ADHD and he mentioned all the connective tissue Co morbities..and then my mind was blown as so many gaps were filled in.

I am pretty certain DS is EDS, he is autistic, and basically everything screams EDS. But he won't see a doctor about anything so he won't be getting a diagnosis.

The diagnostic criteria are changing later this year. Might be something worth looking into.

EDS are genetic yes, but occasionally they can be de novo as in it spontaneously occurs.
Regardless of which of the 13 types your daughter may have, it is absolutely worth getting a diagnosis because:
There are several comorbidities that we tend to get alongside EDS - having the EDS diagnosis already in place can make it simpler to get those diagnosed.
It is really important to know about EDS for things like - anaesthetic resistance, greater chance of chilblains, more prone to issues with our gums and teeth. It's a really long list, that's just a few examples.
If it's hEDS then we're supposed to have scans and tests of our heart every five years because we can develop things like mitral valve prolapse.

My daughter and my mum have it, I don't. It's worth getting checked out.

Dd was diagnosed when she was a teen and I was diagnosed last year. Lots of things made sense about all the issues I have with my joints. I had surgery on my ankles a few years ago which I probably wouldn’t have had if I’d realised then I had EDS, it explains why my tendons keep tearing.

I do have dental issues so feel vindicated for those not being my fault. I’m having another root canal next month and the dentist seemed to understand when I said I had EDS and knew about the anaesthetic issues.

so I think having a diagnosis is useful. For instance Dd had an unprovoked pulmonary embolism which in a&e they seemed quite laid back about until I said she had EDS. Then lots more phone calls to other people to check stuff, referred for more outpatient follow up. Loads of tests, etc to see if she had vascular EDS.

theres also the employment protection. If I were to have sickness I’m protected under equality act as it would count as a disability. Work would also need to make reasonable adjustments for me if I felt I needed them.

Good to know I’m not the only ‘latecomer’! Although I’m much older than you I’ve had joint issues my entire life.

The bit that’s confusing me is I am most definitely not hypermobile in the normal sense - more very stiff, but unstable - the joints, not me (well, maybe!)

Ill keep an eye on the diagnostic news.

Thank you. It’s hEDS they’re suggesting, but the consultant is focusing on more immediate issues at the moment, including the mast cell thing, and some other more concerning symptoms, probably unrelated.

My teeth! Ticks another off the ever growing list.
My mother’s were even worse, and as well as my own history, I’ve been trying to probe for hers.
lots of issues are adding up and lightbulbs going off everywhere.

Oh how scary re the PE. Thank you for this important info, sorry she went through that (and you). I’m now feeling less flippant because the vascular aspect hadn’t registered, and DD has had serious hospital stays in recent years. I’ll be more on the ball now, thanks to your comment.

DD’s consultant was amazed she hadn’t had issues as a child, but she wasn’t sporty, so I may have missed it. I was - with the emphasis on was - very sporty so managed to brush off pains as over training.

Good tip about the employment support - although we are both self employed, it’s good to know in case things change.

Getting a diagnosis can mean that you are accepted as under the care of the relevant team. It can give you, if that is important, a label which might make other people more accepting of any limitations the condition places on you. Generally treatment will be to deal with each of the symptoms.
My daughter has had various suggested diagnoses over the years, currently ME and fibromyalgia but both POTS and EDS have been considered. My mother was hyper mobile. I was as a child too and was diagnosed with a different autoimmune connective tissue disease in my fifties. This explained a few stomach issues I had been having.
Like you I had just lived with a weird body but having it taken seriously was reassuring and prompted me to take better care of myself going forward.

Have to say ime there is no ongoing care under any team. Both myself and Dd were given a leaflet explaining the condition and discharged. Not sure if it’s better in other parts of the country.

Just do be aware that if you have a diagnosis you have to declare it on things like travel insurance and as dsd discovered, meant she wasn’t allowed on a group tour they looked into. In her case I think she would have struggled with the itinerary but even for a trip to Spain she pays 3 times what I do for insurance (and I take two prescriptions). Her eds diagnosis came with zero support

I’m ND with hypermobility but not EDS. DS has ADHD and hypermobility.

Definitely worth looking into it.

My daughter is diagnosed with EDS and it explains a lot. she was always having joint issues as a child (which we were incredibly unsympathetic about as we’d no idea what was really going on, and all the doctors on the way dismissed it as growing pains.). However it really emerged when she got pregnant though was wrongly diagnosed at first. It makes her life hard to manage though the diagnosis has been helpful in getting work to agree to some minor adaptations which are essential for her continuing in work. In hindsight my mother almost certainly had it too - her joints were incredibly flexible and she always said she would have made a great contortionist. What she could do with her leg and knee joints was insane. I suspect my grandmother had it too, as that would also tick a number of boxes.

Sorry to jump on to your thread OP, but which specialty of consultant did your DD see for her diagnosis? Our GP isn’t very sympathetic, to the extent I’m wondering whether to go private.

Would be rheumatology.

I got diagnosed with hEDS at 31 and it is relevant for stuff I hadn’t foreseen so I think it’s worth pursuing a diagnosis.

No apology necessary.
She’s currently seeing a cardiologist who seems to be based in the geriatric unit, which causes some laughs. Referred by her GP after her POTS symptoms became dramatic. The GP was on the ball, instantly. And she had ECGs etc.
(she lives in a different area from me, where I can’t even get to see a GP.)

I think her whole team, from GP onwards, take good care of her because she had a major emergency hospital admission a couple of years ago - in ICU for a while with some odd lung infection. I wouldn’t recommend this way into the system, though!

I don’t believe her cardiologist is diagnosing EDS, but he definitely seemed to know about it as she mentioned some weird tests he made her do.

she is off on another path now - something to do with her adrenal glands.
it’s non-stop with her!

Weirdly, for her, it’s her cardiologist - following her POTS ECG results.

ETA - I’d love to see a rheumatologist, I hurt everywhere today!

Thank you all so much, you’re so helpful. Lots to think about, and I’ll focus my attention on my DD for now, as she’s the one with her life ahead of her.

If she does get diagnosed with EDS, I may see if I can get an official diagnosis, too. It certainly would explain a lot, but I’m not sure it will gain me anything. Maybe better pain killers, though, lol.

I am still a little confused by the hypermobile bit for me, as my joints are the opposite of hypermobile. They all hurt like hell, though, but I’ve always put it down to knackeredness and injuries, old and new.

@UncannyToad thats very normal for hypermobile. Stiff and painful.

Essentially your body has to work harder than it should to stabilise your joints.

Doing some specific strengthening exercises will help. Eg. My knees were agony, so I've worked on the muscles in my quads and calf and hips. Loop bands are brilliant if you have hypermobility.

I couldn't walk after long car journeys and I've worked on stanlbilising my pelvis/SI joint and strengthening it.

My feet are in agony now. So I've moved onto the next lot of physio.

Also OP I assume you have HRT? This also really helps. I'm on the highest amount of oestrogen and made a big difference when I got to my early 40s.

@UncannyToad yes I’m exceedingly stiff. Your muscles tighten up to try and compensate for loose ligaments or something. My knees and elbows still bend backwards but my ankles, toes, shoulders are still. Physio says my pelvis is hypermobile but I feel my lower back is stilff.

My dd has been diagnosed with EDS, also fibromyalgia. I am wondering if she has POTS so that’s something we have to look into.
I am very hypermobile and my knees dislocate if I’m not careful how I move, dd is hypermobile but not to the same extent as me at all but I don’t have EDS

The adrenal gland thing is that POTS can occur as a result of adrenal insufficiency - where your adrenal glands don't work as well as they should. MCAS, PoTS and EDS are frequently found together. My DD has a diagnosis of PoTS and EDS and her cardiologist has also suggested she may have MCAS.