New to HSD

[Bubble89]

Hi all

This is likely to be a long post so I apologise in advance! I’ve been struggling with deteriorating health for 10 years now. It’s been a long and complicated journey, which looks likely to be coming to an end here.

My health started to deteriorate in my early 20’s with fatigue and widespread muscle and joint pain starting. I was constantly catching bugs and at some point just seemed to stop recovering. Over several years the pain and fatigue intensified. My joints were stiff and painful, I gained a lot of weight, suffered severe brain fog, began loosing my hair, had a lot of skin problems (eczema, dry skin, allergies). I have issues with both tachycardia and palpitations, and severe abdominal pain. Dry eyes, raynauds, temperature regulation/sweating issues. The list goes on 😂

In 2015 I was diagnosed with fibromyalgia. The doctor I was seeing at that point was extremely unhelpful and had spent the better part of 5 years telling me I was psychologically unwell. After the fibro diagnosis I moved to a new doctor who has been excellent. He quickly established that I had a hypothyroid issue (antibody positive) and several related vitamin deficiencies as well, all of which he is treating. He strongly felt that I also had an autoimmune illness, suspecting sjogrens or lupus. I saw a rheumatologist last year who was awful. So my GP sent me for a second opinion referral, which brings me up to now.

This Rheumatologist was lovely. She actually listened to me and spent a lot of time answering my questions. She doesn’t believe I have lupus, as whilst many of my symptoms match my bloods just don’t. However whilst she was examining me, she realized I was hyper flexible. No doctor has ever picked up on or mentioned this before. To some extent I’ve always known it, at least I’ve always known I’m bendy. I guess I never realised that may cause issues as I’ve always been like this...?🤣

At the appointment, nice Rheumy said she thought I had Hypermobile Spectrum Disorder and POTS. She said this wasn’t her area of expertise so couldn’t tell me more, other than to give me a leaflet and tell me to do some reading. She’s referring me to specialist physio.

I’ve been back to the GP and explained, he’s agreeing with everything the specialist has said. I’m not clear at the moment if they are formally diagnosing this or if they are using it as a working diagnosis. I scored 5 on the Beighton scale.

I’m trying to information gather now. One thing I’m unclear about is if I should push to investigate a hEDS diagnosis, or wether I leave it at HSD. Is it important to investigate which it is? I think I’m hitting the criteria from reading the EDS society website, but my GP talked about people with hEDS being an extreme end of the scale that can ‘fit through tennis rackets and swallow swords’. He didn’t seem to be considering it.

I’ve had more joint injuries than I can count, including a full knee reconstruction at 16 after breaking all my cartilage and ligaments doing seemingly nothing. Actually it took over a year to diagnose that injury as no one believed I could have done so much damage by twisting. I dislocated both knees simultaneously when I was 7, they relocated spontaneously in A&E. I remember I would often sit in odd positions and they would lock, before painfully clonking and releasing. I spent my childhood in and out of A&E, I was extremely accident prone and clumsy. I’ve damaged the ligaments in both ankles and regularly roll these now because they’re so loose. I’m sure the ligaments have gone in my left knee too. I get regular TMJ. Shoulders feel like they bounce in their sockets as I walk. I get tendonitis in my wrists and hips. My elbows feel like they get stuck, and the I get a big painful clonk and they move again. My entire body cracks and pops like bubble wrap! Even my ribs. I heal very slowly in general, and have stopped having piercings because the holes refuse to heal.

Any thoughts would be really appreciated. I’m just not sure where to go from here. The thought of having to start fighting for a diagnosis all over again is daunting. But after all this time, the label feels important to me. I don’t want to push for something if it really doesn’t make a difference though, so is it important to get the hEDS diagnosis if it’s there, rather than HSD?

Thanks!

Bubble x

[cyberbarn]

This might seem like an odd thing to say, but congratulations on your diagnoses and finding a doctor who listens! I hope you felt some relief at finally getting some answers. Are they treating your hypothyroid problem? If that is not sorted out then it will make some of the other things feel worse.

As to whether to go for a further diagnoses of hEDS or to stick with HSD, it may become a moot question as the changes to the nosology and criteria they made in 2017 have not gone down too well in the community, either with the clinicians or the patients. So things may very well change again. I know the consortium are looking at that now.

And hEDS is not the more extreme end of HSD, many with HSD can be far more affected than those with hEDS. The reason for having such a strict criteria for hEDS was that they thought it would make it easier to find an underlying genetic cause. That isn't working out so well for them either!

So maybe just at the moment, as the treatment is the same for both, have a rest from pursuing a further diagnoses and try to get life as good as possible. If there are situations where, say physio, was being withheld because you had HDS rather than hEDS on your records , then by all means look again. But I suspect the diagnoses of Fibro, which is now probably incorrect and should be removed, will be much more harmful to you than having HSD rather than hEDS.

Rather than tell people I have hEDS or HSD, because most people have never heard of either, including many clinicians, I tell people I have a connective tissue disorder and explain how it effects me. That is usually enough.

And in case you haven't found it, you might like to have a look at and share with your GP the RCGP EDS toolkit.

rcgp.org.uk/clinical-and-re...

[Bubble89 in reply to cyberbarn]

Hi Cyberbarn

Thanks for the response and sorry for the delay. With everything going on at the moment I’ve been distracted!

I must admit, I walked out of that appointment and cried with relief in the car park. Both my GP and I had been pretty set on the lupus theory for some time so it’s been an adjustment to let that go and accept something new, but it’s the first time I feel like I really have an answer and that feels great.

I think you’re right, for the time being I’m going to leave the diagnosis thing alone. I’ve spent a decade fighting for one. I think it’s time for a break!

I’ve been doing lots of reading and this page has been really helpful. I’m following some social media pages too which have been great. I’m more informed about the HSD/hEDS contention with the society now, so see what you mean about the criteria etc.

I’m sure I’ll be back with many questions! Thanks for your help.

Bubble x