Ehlers Danlos diagnosis

[WitheringTights000]

Hi all,

Does anyone know where I can get a private Ehlers Danlos syndrome diagnosis/ or have it ruled out!

There was one specialist (whose name escapes me) who I had contacted but was told by their PA that they were going on a sabbatical ( this was one year ago) ...they asked me for referral letters which I sent in, then I never heard a thing again despite contacting her again!

Help! I don't have a clue who to go to!

Anywhere In UK is fine

I saw a rheumy on the NHS for my diagnosis, had to wait about six months to see him mind.

Following … I think I would meet the criteria for diagnosis but no chance of an NHS referral

@SOWK - it would be a waste off my breath even trying to get an NHS diagnosis, but it seems really bloody difficult to even get a private one...I don't know what to do arghh

@patsy999 - just saw this. Im happy to go private as insurance should cover me.... but it seems bloody tricky

Just phone bupa?

It's AXA PPP I have, they aren't much help. It's quite rare!

@Itisbetter - sorry that was for you

Rodney graham is the main specialist in the uk but he’s quite old so I’m not sure if he is still working

What makes you think its EDS? I scored 6 out of 9 on the scale that they used.
I have trochlear dysplasia, hypermobile joints, early onset osteoarthritis and ME.
Haven't got the stretchy skin though.

@patsy999 - I have a lot of the symptoms.

Chronic uti ( I know not everyone has this)

Ibs (sibo)

Had to have a lumbar discectomy age /6 due to moderate/severe prolapsed disc in my back.

Clicking joints, I was told by my orthopaedic surgeon I am very hyper mobile! He didn't have any suggestions about who to see tough

• though

Ehlers Danlos is something that has gained a lot of people self-diagnosing online on TikTok; it might uncharitably be suggested that some of them have Munchausen's, though I have no doubt that it is underdiagnosed and some of them are genuine (some definitely aren't though). I suspect a lot of doctors have become more wary of people seeking that diagnosis.

For some time I thought I might have hEDS; I had a lot of the symptoms (more, truth be told, than you report). Turned out it wasn't hEDS, but a different connective tissue disorder.

What's your Beighton Score and which of the EDS subtypes do you think you might have?

There's a checklist for hEDS diagnosis at www.ehlers-danlos.com/wp-content/uploads/2019/09/hEDS-Dx-Criteria-checklist-1-Fillable-form.pdf and an HCP directory at www.ehlers-danlos.com/healthcare-professionals-directory/

Rheumatology is the speciality that deals with connective tissue disorders though.

Dr Anand Saggar was who our insurance (AXA PPP) was going to send ds to. Ultimately ds was too unwell to travel to London for the assessment (he has PoTS, Mast Cell, hEDS and CFS) and after we had to cancel multiple appointments, he was diagnosed by an NHS Rheumatologist against the 2017 criteria when he transferred to adult services.

Dr Saggar worked with Prof Grahame for a while and as you can see, mentioned EDS on his website. As I understand it he is very well respected, although I have heard a few people ended up seeing his colleague, instead, but were still appropriate diagnosed.

Bear in mind that under the newer diagnostic criteria, HSD is not to be considered a lesser diagnosis and in some cases can be more severe than milder cases of hEDS. Ds had an HSD diagnosis for a couple of years, as the children’s hospital he was under ‘doesn’t like to label children with EDS’ and that was still taken seriously by cardiologist, neurophysiology and specialist physio.

An alternative place to contact is The London Hypermobility Network.

If you find out let me know. We as a family have almost certainly got EDHS but we cannot get any referral let alone a diagnosis. DD1 was diagnosed HM by physio and had to give up her sport that she played at national level due to injuries, I have some classic markers plus a lot of "invisible" markers, my sister is the same as is our mother. DD4 is "classic" HM with her knees and elbows, clicky joints and stretchy skin. Can we be referred? Can we hell.

DD and I both have hEDS - DD was diagnosed by Professor Grahame, I was diagnosed by my urogynecologist. It was the chronic UTIs that led me to him and from there my life long health issues started to make sense. His name is Professor Vikram Khullar - if you are still having UTI issues he is amazing and specialises in EDS in that area.

@Summertime2 - thank you so much for getting back to me. I have a chronic embedded uti and it's really bad. I went to professor James malone lee and he said I have a 'rip-roaring UTI' ....the problem is I cannot stomach the antibiotics for it...flares up my SIBO (IBS) / GERD, which I believe it also part of hypermobile Eds! Antibiotics don't seem to improve my UTIs either.

Does professor vikram have any other treatment apart from antibiotics? I am actually considering bladder fulgaration but it only seems to be done in Turkey!

And one of my previous posts was a typo it meant to say I had back surgery aged 26 not 6!

Professor Khullar is amazing - and has a long wait list - so I'd call and try to get on it ASAP.

He will leave no stone unturned to try to help you.

You say antibiotics haven't helped - has anyone identified via a culture what antibiotics your infection is sensitive to? And how long were the courses you tried?

Have you looked at bladder installations? I assume you are on it in terms of dietary triggers if you also have IBS?

Maybe intravenous antibiotics might be an option?

You have all my sympathy - it's hideous having a chronic embedded UTI.

I'm happy to help if you have any more questions about Prof Khullar or UTI stuff generally.

@Summertime2 - thanks again for your reply, I am going to ring today to see when I can get the next appt.

Was the professor then able to refer you on to a hypermobility specialist?

Antibiotics just haven't made a dent in my UTI. I assumed it's because the connective tissue is weak to the bacteria seeps through into the inner lining anyway! It makes me feel pretty hopeless.

The other professor I went to see in a London didn't believe in trying to identify the bacteria as he said that it's different bacteria they cause the infection and it's just the one that's easier to grow that will show up on a test, but fangs not necessarily the bacteria causing one!

I tried bladder installations to no avail! I would honestly consider bladder fulgaration at this point but it's worrying and very nerve wracking!!

Admittedly I haven't properly tried low histamine diet....is diet something that the professor uses?

I need another option apart from antibiotics

Thanks so much for your help!

Could also try to see Alan hakim. He is lovely and diagnosed me and recommended vik khullar for all things urogynae.

I ended up seeing dr panayi as he was trained by vik and closer to me. He was fabulous. My recurring utis were actually mast cell activation syndrome (my bladder is irritated by urine and the walls bleed. Helpful!!) and low histamine diet and meds to reduce spasms and reduce inflammation in bladder really helped. I have to be careful what I eat

@Ridingthegravytrain - is Alan Hakim for the hypermobility?

I think low histamine is definitely something for me that needs to be at least properly tried and considered!

It's possible I could have mast cell syndrome as I have other symptoms that tie in with this. My eyes are very itchy and dry and an Opthamologist years ago told me he thought I may have mast cell issues as the eyes are full of mast cells!

I'm pretty desperate at this point so would need to give the diet 110%. It's been 9 years of complete hell.

Just called and they are closed for lunch but will call back straight after and get the ball rollling! I hope they accept new patients!

Dr hakim is a rheumatologist

@WitheringTights000 Vik Khullar did have me on a low histamine diet when I first saw him and it really helped to calm things down.

I also had long term antibiotics once we found one that worked. I would definitely see what he says in relation to this. There are different types of cultures for bacteria. And even if nothing grows that doesn't mean there isn't an infection in the bladder wall.

Have you managed to get an appointment? If it's a long wait I'd start on the low histamine diet anyway. Do you have enough info on that? I'm sure I can find a link to the list he gave me.

@Summertime2 - thanks so much for your message. There is deffo infection in the bladder wall as another prof in London took a fresh sample of urine and said that I have a very significant infection

But antibiotics do not work for me and cause horrific stomach issues!

I have made an appt with vik khullar, the first one I would get is end of April!

His PA said he does look at histamine etc so hopefully he will be willing to try a different approach with me!

@Summertime2 - I have found some stuff on histamine online but it doesn't seem to be an exhaustive list

@WitheringTights000 - just to check you've asked to be on a cancellation list? This has worked for me several times.

There is a simple list and a very detailed one for low histamine diet - these were given to me by Vik Khullar. He said definitely avoid 3s, limit 2s as much as possible and 1s ok.

Simple List

Long List

It's definitely worth giving these a try. Maybe getting histamine/mast cell response under control might decrease your sensitivity to antibiotics? But I don't know!

I really hope you can get an earlier appointment - let me know how you get on- feel free to PM me.