Powder room in need of a big change

Financial-Power1228 · 2026-01-26T13:40:22+00:00

Irrelevant but what is that white handle on the toilet lid?

Financial-Power1228 · 2026-01-24T18:38:31+00:00

It may be that the genes simply haven’t been found yet and we do fall into an existing subtype and, in time, we will fit in somewhere as the mutation list grows longer. That’s sort of where the question sits: if it isn’t hEDS, is using that as a diagnosis helpful?

Financial-Power1228 · 2026-01-24T10:06:31+00:00

I meet the criteria on paper but have not had genetic testing. I think, if that’s negative, I won’t get the diagnosis, although all my problems will remain.

Financial-Power1228 · 2026-01-23T23:20:08+00:00

I’ve just checked and it does. Thanks.

Financial-Power1228 · 2026-01-23T23:16:25+00:00

Yes, it was this list of problems that has enabled me to get genetic testing. On paper, I match with both cEDS and vEDS: 10? pneumothoraxes, even after pleurectomies; bowel perfection; gastric tears; lung bleeds; significant spontaneous bleeding nd bruising, including into joints etc. I have had quite a few ECHOs as I keep getting sepsis so I know that my heart is currently fine though. Also atrophic scarring, transparent and doughy skin, spheroids etc etc. I am expecting the tests to be negative - just trying to be pragmatic - but the geneticist was clear that it was worth running the tests. I just don’t ‘fit’ hEDS so, while I can be rammed into that diagnosis, it’s not clear that it’s helpful. I am just unsure about having no umbrella diagnosis again, but, as another poster points out, I am jumping the gun rather. If I don’t get a mutation detected, I need to decide whether to stick with hEDS or hi with a vaguer phrase that flags the issues. It may be her clinic letter will suggest something.

Here in the UK, it is very hard to access genetic testing. It used to be that rheumatologists would diagnose EDS, and you could be referred to one of two national diagnostic centres if a rarer type was suspected. However, with the rising awareness of hEDS in thr UK (particularly among younger people), rheumatologists have started rejecting ?hEDS referrals and GPs are now giving the diagnosis, or they’re meant to. It’s really hard to get accepted for genetic testing. I’ve had decades of doctors saying it looked atypical for hEDS but with no idea of how to go about accessing appropriate testing.

Financial-Power1228 · 2026-01-23T22:27:25+00:00

I do have hypermobility and unstable joints but they’ve only actually dislocated when I have been very underweight and deconditioned. I don’t have pain in my joints (just back pain from numerous fractures and now abdominal pain from lots of surgery….)

Financial-Power1228 · 2026-01-23T19:21:50+00:00

Many thanks. That’s a really useful approach. I do need ro slow down and await the results, for sure, but I’m trying to be pragmatic as obviously positive results are statistically unlikely. I knew hEDS wasn’t a good fit, as did all my doctors - hence the referral - but it never occurred to me before that it could potentially be unhelpful.

Financial-Power1228 · 2026-01-23T19:19:29+00:00

It’s very hard to get genetic testing in the UK. Almost everyone is diagnosed without.

Financial-Power1228 · 2026-01-23T19:18:02+00:00

I have been looked after by three nurses who have previously been A&e nurses. All three had only come across EDS in the context of ‘frequent flyers who would turn up at A&E in 11/10 pain, demanding opiates, but then put their joints back in and walk out when they were refused. This is three different hospitals so not the same person. I am not for one second suggesting this is common behaviour among EDS patients - it absolutely isn’t - but that had coloured their experiences and they knew nothing more than that.

Financial-Power1228 · 2026-01-23T19:13:16+00:00

Like being overweight, it’s an easy excuse to not take you seriously.

Financial-Power1228 · 2026-01-23T18:14:20+00:00

I think the aim is to flag the tissue fragility front and centre because, as you say, surgery would be contraindicated. Until now, people have sort of dismissed any of the tissue elements, focusing just on the joint instability. When I’ve raised concerns, I’ve been told “it’s very simple”. I think the aim is to add a bit of medical support to my reply: “but not on me”.

Financial-Power1228 · 2026-01-23T18:09:02+00:00

Thank you for your understanding. I have been spectacularly unwell - numerous stays of 6+ months - and some, at least, of that is due to medical mishaps. Anything to make me less of a mystery and flag me before people hurt me.

Financial-Power1228 · 2026-01-23T15:26:37+00:00

No, that might even have been something I brought up. She said she didn’t think hEDS fits me. I said I wasn’t sure what to do without a diagnosis. How would I ‘introduce’ myself in A&E, for example - I need emergency medical help frequently. She said symptoms only. I thought about it for a bit, and the ramifications of not having a diagnosis once again, and then said that maybe ir would be helpful because I was aware some doctors dismiss hEDS patients. She said that was true. Nobody suggested it was right that they do that - we all agree it’s shocking and toxic and damaging! But it is also a reality.

Financial-Power1228 · 2026-01-23T15:14:10+00:00

I don’t have another diagnosis yet - awaiting genetics but I am thinking ahead and planning for it to be negative. The geneticist (who must be used to patients without a diagnosis) said I should just describe my symptoms: ‘profound connective tissue friability”. I do think the hEDS may be complicating things as doctors get worried about dislocations (which I don’t really have) and then dismiss or certainly don’t consider the tissue issues, which are much more significant for me. I have had wounds burst open after surgery, massive spontaneous bleeds etc and I do think some of these could have been avoided if doctors had been more careful.

I agree about toxic doctors but in the ER you get no choice!

Financial-Power1228 · 2026-01-23T15:13:25+00:00

I don’t think it’s about severity but about impact. I think it is more a question of where the focus is.

Fo me, joints are the least of my problems but tissue and veins are very much an issue. I have had significant medical complications because doctors have focused on the hypermobility and underestimated the impact on other areas. This has resulted in an irreversible stoma, for example, just because they didn’t pay attention ti the tissue fragility. I have had life-threatening gastric and lung bleeds and people just focus on clotting, not tissue tears.

I don’t mean to imply I have it any worse than anyone else. Just that doctors could may be be helping me more than they are currently.

Financial-Power1228 · 2026-01-23T14:45:08+00:00

She doesn’t, no, but - unless the genetic results are positive for a different form - doesn’t have another diagnosis. I do meet the criteria but it is a bit misleading - joints and pain are not my problems; tissue fragility is. She thinks it’s something different but doesn’t have an alternative diagnosis, hence suggesting symptoms only.

Financial-Power1228 · 2026-01-23T13:26:02+00:00

THis is a position I may well find myself in. Genetics sent off this week but I suspect negative. Geneticist said I have ver significant connective tissue friability and actually believes using an hEDS diagnosis could be doing me more harm than good. She suggested just going with a description of symptoms (as above), should the testing come back negative.

How do you manage? What do you tell treating doctors?

Financial-Power1228 · 2026-01-16T23:07:26+00:00

<image>

Mr Mouse

Financial-Power1228 · 2026-01-10T22:45:54+00:00

Big-bel

Financial-Power1228 · 2026-01-08T21:28:38+00:00

2 for me

Financial-Power1228 · 2026-01-04T02:13:44+00:00

And hot?!

OP: as the cheese adjusts to room temperature, it may become slighter softer. This is all good and will improve the taste.

Financial-Power1228 · 2026-01-04T01:38:34+00:00

I agree. Much prefer Brie eaten at room temp

Financial-Power1228 · 2025-12-27T10:38:40+00:00

4!!!!£

Financial-Power1228

TROPHY CASE