Advice? Diagnosis? Surrey services?

[happyraindrop28]

Hi, I'm new here. I have been referred to a rheamatologist (sorry about the spelling!) by my GP for meeting critera for POTS, EDS and possibly mast cell activation syndrome. I already have type one diabetes (well controlled always) and various other things which has led us to this including migraines, IBS etc. I am due to see the doctor this week and am wondering if anyone could tell me what to expect and if anyone has any experience with the services at the Royal Surrey County Hospital.

[Tillyray]

Hi and welcome. You have certainly seen a Doctor who has some knowledge of these conditions to be able to recognise your symptoms. Most of us have suffered for years, and been fobbed off by Doctors because they didn't understand what was wrong with us. We've only got diagnosed by doing our own research and then seeing private specialists. This is a refreshing change! I hope with the new eds toolkit rcgp.org.uk/eds which helps GP's recognise hEDS signs and symptoms and related conditions, that we hear of this more often🤞

I'm sorry I have no experience of the Surrey hospital but others may be able to tell you about it?

I attended The Hypermobility unit in London and I saw Dr Hakim. I was given a physical examination and asked questions about my health, and also my families health history. EDS is hereditary and only determined by a family connection, otherwise if fitting the criteria, a diagnosis of Hypermobility spectrum disorder is given..

In preparation - as requested-I had typed my family history, my own history and list of the symptoms I suffered. My son and I were both diagnosed with hypermobile EDS - hEDS- We were also referred for other tests to investigate possible related conditions...

For Autonomic dysfunction, POTS this was made by a cardiologist...

I dont know if your rheumatology referral is NHS or private? But NHS usually have little time to spend on each patient, so prepare your evidence and be concise. Don't allow hospital/consultant's time pressures to prevent the thorough consultation that you need in order to reach diagnosis.

Good luck and best wishes xx We're here to support you.

[crimson11 in reply to Tillyray]

Dear Tillyray, I would like to say that you do not have to have a positive family history of EDS to have it. Some gene mutations can happen spontaneously. Thanks and best.

[Tillyray in reply to crimson11]

Hi crimson, yes of course it can!.. and I'm aware -from my own experience and that of others I know about- if signs and symptoms indicate HSD without confirmation of a hereditary link, then it will be family/ history that will enable a hEDS diagnosis to be made - as of March 2017.. Best wishes.

[Tillyray in reply to crimson11]

I've just re-read my reply to crimson11 and I'm not sure it properly explains what I meant😕🙃.. hEDS can occur for the first time in some patients without there being a hereditary link. But at a consultation,if signs are not obviously indicating hEDS and point to HSD -as of new criteria- then more evidence is required for a hEDS diagnosis to be made..

And if my explanation is still a jumble, to clarify -here it is from the 'horses mouth'- Those individuals with hypermobility related problems that do not have hEDS or any other Hereditable disorder of connective tissue (HDCT) are now given diagnosis of HSD..Initially in the absence of confirmation of EDS in the family one might describe symptoms as being Hypermobility spectrum disorder..

I can only imagine that for anyone without 'obvious' signs and no family history, that a hEDS diagnosis will be difficult to get and HSD will be given, which seems to be the same condition to endure.. Best wishes everyone xx and happyraindrop28 I hope its going ok for youxx

[Tillyray]

..also EDS types can be tested for by a geneticist, except the hypermobile type -which is the most common-because as yet no test is available for it. So you can be sent onto a geneticist if other than hEDS or HSD is suspected.