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!

I’m mid 40s and have only recently learnt about it when someone mentioned it to me and think I might have it too! It would explain a whole load of issues over the years:

-Very flexible joints - my fingers bend all the way back and my knees bend backwards enough that I walk a little odd (I had comments when younger), my ankles often feel ‘odd’ too and I have a movement I have to do to them to make them feel ok. I can also easily lean forward and put my hands flat on the floor.
-Getting 6 hernias in one one go in my 30s! (Very rare for females so young)
-terrible bunions despite always only having worn flat sensible shoes
-eyesight that is still continuously getting worse in my 40s
-a detached retina and retinal tears. Also scleritis and very dry eyes
-unusually stretchy skin around ankles and wrists/ hands
-I bruise easily for no reason to the extent that people comment
-I got adhesions after c section surgery and another uterus issue linked to the surgery (isothecele)
-low ferritin, fatigue, dizziness when standing in one spot (that I now realise might be due to how my knees lock in an unusual position)
-issues with teeth from a young age

I’ve seen doctors about many of these things individually but they have never looked for reasons for things happening so it’s never all been put together. My main worry is that I could have something like PE and the symptoms wouldn’t be taken seriously due to no diagnosis.

May I ask where you went and the doc as dd has just been diagnosed pots. She is definitely hyper mobile so I wonder about EDS too. Im
sure I have mcas. They are all related.

My adult DD has EDS and I would describe her joints as being stiff and unstable rather than hypermobile. Her diagnosis really did make so many things from her childhood fall into place. She is under both a Cardiologist for POTS and a Rheumatologist. She also had a consultation with an EDS specialised midwife when she was pregnant, to get the right birth plan into place and her midwife at delivery was great with this. My nephew has some similar issues, so there’s an hereditary aspect there too.

No, I had to go cold turkey on HRT last year due to a supply issue - it was making no improvement to anything, so it wasn’t a big deal. A couple of weeks of rage and nobody to take it out on as I came off it - probably for the best!

@tealzip yes get referral to rheumatologist and geneticist.you may have a testable type of eds

I’ll be back later, really appreciate this insight. Lots of joining the dots going on in my head!

Can you tell me more about the diagnostic criteria changing?

Thank you.

I have all 3.

In my case the hyper mobility as a younger person has gradually been reduced by stiffening up with age. Yoga is definitely helping me to recover some flexibility.

I was very hypermobile as a child / teenager. Now I have arthritis and everything is "normal" or worse. My rheumatologist told me that if he had seen me 20 years ago he would have diagnosed EDS..

I am hoping that the updated diagnostic criteria considers the lack of diagnosis before now as an ongoing challenge.

Wan to add that she has every single symptom of MCAS but immunology said no after bloods and 24hr urine samples, so we’re back to square one for finding a cause for those symptoms

Was she tested during or shortly after a flare up? If not then she’d test negative even if she has MCAS.

Ah, this is interesting, thank you. I’m so pleased she’s getting all the appointments sorted out so smoothly.

I was never hypermobile, though, apart from the thumb and finger tips. And constantly turning my ankles with no real issues.

Spent some time talking with my mum, who refuses health-talk, so I needed to be casual. I was born with a ‘dicky hip’, and was supposed to be in a cast. She refused and ‘cycled my legs’. Then I was incredibly clumsy (still am!) so she sent me to ballet when I was a tot. That was great for about 6 years, until I started to grow and stiffened even more. After that, I did lots of other sports and possibly over trained. Ouch. Those injuries still trouble me.

All the women on my side have super soft skin, which is often commented on. Odd compliment, but I’ll take it!

If DD gets a diagnosis, I’ll give it a go. Maybe I can get physio or something.

If you were meant to be in a cast as a baby you may well have hip dysplasia. This can cause instability and pain. Diagnosed through X-ray/ mri and associated angles and hip coverage.

Worth getting looked at because if you have any hip joint surgery down the line having undiagnosed dysplasia can cause it to fail.

Wow really?! I didn’t know that. She was tested when she was not in a flare, we just got the appointment in the post and went to it. If she had been in a flare we couldn’t have gone to the appointment.
They did tell her to take 4 fexofenadine every day which she does and we manage what she eats so she has been a bit better. I’ll have to speak to someone about this.

I would be 99.9% if she has MCAS symptoms and especially if they are helped with antihistamines then she has MCAS. It can be a hard diagnosis to prove via blood tests but if I were her I wouldn’t be chasing alternative diagnosis just because of negative blood tests. Just my opinion.

I also was certain she has mcas. She had 24 hour urine collection too as well as blood tests.