EDS Rheumatologist referral query

From Twitter tonight.
This family are struggling to secure input and support for their daughter
Inpatient GET episode left their daughter severe. Experienced the lack.of understanding with education and social services.
Anyone who has suggestions please contact via Twitter or i can forward .
I have no knowledge of consultants who could help with EDS.
Check out @agirlandme’s Tweet:

 

I do not know of a UK rheumatologist who can give any useful advice re EDS. There isn't anything really to advise as far as I am aware. Rheumatologists who take a special interest in hypermobility I would tend to steer clear of. If they recommend anything it is likely to be exercise. Or even CBT.

The implication from the post is that the patient has ME? If so I do not think any advice about EDS is relevant. EDS does not cause significant fatigue as far as I am aware. There seems to be a lot of confusion about this.

If the daughter is almost 16 they will need to see a paediatrician. Adult rheumatologists are not allowed to see children.

 

Yes, their daughter has ME, made worse by GET.

In Scotland paediatric input can end at 16 . I have a feeling it was the paediatrician who organised the inpatient stay which forced hospital school and GET on this child with disastrous results.

As i understand things there is significant hypermobility and sublaxing ( apologies if this is the wrong term).
Constant pain with no prospect of anything other than paracetamol/ ibuprofen for relief.

I have tagged Dr Emma Rheinhold on twitter too. Family have advised they are prepared to travel as far as London if required.

 

Thanks @Trish

 

I disagree and think there is much to be gained by seeing a specialist in a hypermobility clinic, though perhaps not directly for help with 'EDS' itself.

I'm aware there are strong opinions on the validity of hypermobility as the cause for the many evils attributed to it, I'm certainly in no position to debate that with anyone. However, my own experience is that the attention paid is a great deal more thorough once you have the EDS label. Its the ticket to tertiary clinics for proper work-ups in cardiology, gastroenterology, allergy etc.

Just having the ability to drop the CFS badge around certain doctors is motivation enough, imo.

 

While all/most forms of EDS include some amount of hypermobility and risk of subluxation, EDS is a lot more involved than this.

It’s important to know the risks because they should check the heart, use special kinds of sutures if there’s any surgery, monitor more closely for osteoporosis, etc. For some kinds one might use braces to prevent constant subluxation.

https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes

In my experience, the rheumatologists I have seen in clinic have been dismally uninformed, but I gather some people have useful rheumatologists. Many are not able to have an EDS doctor of any kind. I was diagnosed by a geneticist, but I am not followed up by anyone. Much like the case with my ME.

 

As I have mentioned before, I used to work in one of the first hypermobility clinics in the UK. I have worked alongside a hypermobility clinic for years. I was never convinced that hypermobility or 'H-EDS' causes widespread pain. I see no reason why it should cause the symptoms of ME. An industry has grown up around this idea much as the CBT and GET industry has grown up around the BPS clinics. It follows the same woolly thinking and the same use of treatments without any proper trials.

ME is a real illness. I am very unconvinced that 'H-EDS' is an illness. 'EDS rheumatologists' are more or less by definition people who do no know what they are doing to my mind.

 

Thank you for your reply. I appreciate your expertise.
It' s my understanding that this may be a comorbidity. It may not be anything definitive but is something that should be checked out.

ME followed a viral infection prior to the hypermobility being an issue, ie ME came first. Whether the joint/ connective tissue issue is a consequence of GET, or simply typical of severe ME , I don' t know.

This family , after their experiences with medics, educationalists and social work may be wary of engagement. That they are asking for help publicly is significant in itself.

Perhaps there's a subset for whom joint / connective tissue issues are more severe? The problem may be that in the past symptom s may have been merely been dismissed, probably as psychosomatic irrelevance s. This could be more of an issue if you happen to be female.

Chris Ponting' s female gene "hit" perhaps provides a glimpse of what can happen when you actively go looking.
It would not surprise me if a combination of epigenetic " hits" as a response to stress ( infection etc) accounted for many of the manifestations

 

I am not sure what 'comorbidity' would mean here. Lots of people are hypermobile and by and large it is not a great problem. EDS types that affect other organs like heart are very rare. I never saw a case myself in 35 years in rheumatology. A cardiac examination is always a good thing to have but hypermobility per se is not a reason to look any harder. Our study of hypermobile patients in a rheumatology clinic showed no increase in heart problems.

EDS is present from birth. It does not develop later. Hypermobility does not develop later, except in specific joints following severe arthritis. Exercise cannot cause hypermobility. The length of a ligament cannot get longer with use. Otherwise athletes would all become hyperbole and they never do. You can make better use of the range you have if you train but that is all.

I sympathise because there are so many medics in this are talking nonsense. But that is particularly true of those involved in hypermobility.

I don't know of any reliable evidence for connective tissue issues in ME. As far as I can judge this is a myth. A few people with hypermobility and maybe a very few with EDS have ME but I don't see any evidence that they are connected.

I gather that a prolyl hydroxylase gene seemed to associated with ME. I very much doubt this has anything to do with hypermobility. Prolyl hydroxylase is not involved in determining ligament length as far as we know. I don't even know if anyone thinks there is any effect of this variant on collagen synthesis. It looks like a red herring to me.

 

Thanks for the explanation.
Hopefully more research can throw much needed light on mechanisms.
The mention of Chris Ponting's work whilst showing up my lack of knowledge was also to highlight that when you look for things you might find something of interest.
Given the recent realisation that things seem to work differently for male/ females, hopefully this can be useful in eliciting differences and pushing things forward.
Thanks again

 

I am awaiting a genetics referral, made by an NHS Consultant lymphologist who postulated that my health conditions of ME, lymphadema, hypermobility and mitral valve prolapse may be part of a syndrome, maybe EDS.

I have looked at EDS fb sites on which there was discussion of rheumatologists who saw EDS patients which might be of help to the enquirer.

One site is https://www.facebook.com/EhlersDanlosUK/
There are quite a lot of posts about children.

 

thanks @Binkie4