Rheumatology appointment

[OTskywalker]

Hi everyone

I have had my first rheumatology appointment this morning and I'm left feeling quite confused. I've been told that I'm definetly hyper mobile (already knew that) but that he can't diagnose EDS as I don't have family history of it. There is apparently no point in sending me to a geneticist as there isn't a test for it so he's going to leave it at just hypermobility. I've been referred for a heart scan to see if I have vascular EDS, but if that's clear then I'm being discharged. Is that normal to only have one appointment and be discharged? I don't know what I should be asking for really! I've been referred for physio as well which is good, but feels like the only positive of my appointment!

Thank you in advance

[sunride]

Hi OTSKYwalker,

I have had a similar experience to yourself. I was recently diagnosed with Hypermobility syndrome and was referred to physiotherapy.. I'm pretty much on my own now and I am left confused. I'm currently waiting on a cardiology appointment.

My consultant did say that EDS type 3 is the same has hypermobility syndrome. However he feels that it leads to less confusion if labeled hypermobility syndrome.

Best wishes x

[OTskywalker in reply to sunride]

Hi Sunride

Sounds like we are in the same boat then! I came out of my appointment today just confused more than anything! Hopefully the physio will help both of us x

[Anameescapesme]

A heart scan won't diagnose vascular as that can only be carried out via blood DNA.

What it will do is pick up any connctive tissue defect within the heart which in turn will be investigated. Some people have ectopic beats for example, which is often found in hEDS.

The diagnostic criteria has changed and EDS is being differentiated from Hypermobility now.

Hypermobility doesn't necessarily mean Ehlers Danlos Syndrome. Many EDS patients aren't that bendy!

Physio is the recommended best practice in the first instance for Hypermobility to increase strength in all the muscles surrounding the joints, which in turn stabilises them better.

As it's genetic there isn't a cure but there are management strategies. These are very dependent on individual need as this condition isn't a one size fits all, but often it's 'best fit' rather than bespoke!

[Tillyray]

Hi OTskywalker. So many of us seem to have this experience☹ I was confused after my rheumatology appointment...I was told I have hypermobility which is cause of various symptoms, and some early signs such as early onset varicose veins 'are interesting'..After that,and even though I am so ill, with many symptoms that are totally debilitating and I have disability..I was still discharged!

I have since learned that general rheumatologists' have no specialist knowledge in EDS or the greater affects of Hypermobility.Although they might spot the hypermobility signs in patients, they do not have any extensive knowledge into it or eds-The name of it is a confusion alone, with not being able to agree on what to call the condition-.and I think because it's a multi system,ongoing condition, thats why they seem to discharge and leave you in care of GP. Trouble with that is, GP's need direction of where to refer you onto for the problematic body system..Most GP's don't understand the condition, so you have to educate them anyway.

Thats why seeing a Hypermobility EDS specialist is important in order to receive an actual diagnosis,and then be referred on if necessary, to get the specific care and treatment for what areas may be affected. At least for now you have a cardiac appointment 👍 some wouldn't have had the idea to send you to check heart valves etc.

So don't give up.You seem like you are where I was after my rheumie appointment.It is only the beginning and from it you can move to the next stage..You can now ask your GP to refer you to a Hypermobility consultant. I am informed the Hypermobility unit in London is the place to go, my appointment is in April. Or go on the hmsa or eds helpline and ask there for a consultant recomendation on the NHS.

Good luck and better health.

Best wishes x

[TigerTea]

I was told only way to get referred to specialist eds unit was via your local rheumy. GP Can't refer you themselves. I was originally diagnosed during autonomic tests at NNIH Queens Square, but they said they couldn't cross-refer me, I had to go back to GP for local referral first. Bonkers!!

[Tillyray in reply to TigerTea]

Hi TigerTea. The Hypermobility unit in London is private and GP can refer.It may also be possible to self refer I think..I dont know about those on NHS but I hope it isn't made too difficult, Its hard enough!.Sorry you've had a run around, they must just love the paper work😕

Best wishes x

[TigerTea in reply to Tillyray]

Hi Tillyray, yes I realise London Hypermobility unit is private, think that may be my only route, i've had four years of eating difficulties & it's a lonnnng story that my gp practice doesn't 'show well' in, so not hopeful of their help pushing nhs rheumy to get moving on nhs hypermobility rheumy. My daughter has recently been diagnosed with eds, kyphosis, sciliosis and chiari malformation & they're not hurrying to get her any help!

Onward stripey soldiers.... 😉

[Tillyray in reply to TigerTea]

I'm sorry to hear of your difficulties.It seems to be a familiar story..and I myself can relate to a 'long' story😕 I've had to educate myself, develop the strongest backbone, and keep pushing forward..I only hope I get the right answers soon..

Good luck to you in your quest, and best wishes to your daughter too x

[Chez1]

reading this with interest - went to see consultant yesterday who said they were almost certain it is not RA as MRI scan has only shown wear and repair damage. but when i asked about joint hyper mobility she just dismissed it. both my sister and I could put thumbs on to arms and i think my daughter can do the same (not easy to tell with her as she is Down Syndrome). may have had other signs when I was younger but did not take any notice (did gymnastics till i broke my wrist) now left wondering what is happening. there was one comment in my notes that she did not understand so she would talk to previous consultant as it was something to do with vascular. my gp will not have it that it is hyper mobility as i have had swelling. where do I go from here? thanks

[Tillyray in reply to Chez1]

Hi chez. I myself have had a very long and difficult journey.I have been sent for years in all kind of directions..and nearly everyone does.So you are not alone..My long standing diagnosis is fibromyalgia.But with greater illness, and a lot of symptoms not fitting it, Ive had to pursue referrals. At times I felt demoralised and fobbed off, its been awful.I would have settled back and left it had I not been getting increasingly worse and more disabled..

From what I understand, anyone can be hypermobile and it not be a problem.But when it is a problem and you may also be experiencing other symptoms that affect you,then it needs investigating as any body system can also become affected..

If your condition is Hypermobility, I think physio is the treatment offered, but an actual specialist will properly assess you to check everything as you may have other system involvement, and they won't fob you off - or shouldnt!..hey I'm a little wary now- 🙄

A general rheumatologist is unlikely to have the specialist knowledge and so will not diagnose EDS. A general rheumatologist may acknowledge hypermobility- as in my case- but unlikely to offer anything else regarding it possibly being EDS, in spite of symptoms. If like me and you have another diagnosis, then they may just want to put it all down to that.

The best way forward would be to go to the private Hypermobility unit in London.It is not as expensive as you may think for the one consultation. It is a way to travel for me and my son,but if it gives answers it will all be worth it!..

They will diagnose and can differentiate hypermobility and the EDS conditions..After the consultation, a diagnostic letter will be done to point you onto further specialists' to deal with any offending body system if required, and any treatment if appropriate..I am informed you can ask for any follow-on specialist-consultant appointments to be in the nhs if you prefer.

Good luck and best wishes to you and your daughter x

[Chez1 in reply to Tillyray]

thank you, this helps I won't give up just yet.

[Country4eva]

You need to see genetics anyway because I have EDS type 3 and even though there is no blood test, they are suppose to be trained to examine you and determine your severity with the breighton scale. I scored 8/9. There is also factors besides being bendy. EDS also includes irritable bowel syndrome, POTS, dysautonomia, scoliosis, TMJ, trigeminal neuralgia, fibromyalgia, insomnia, osteoporosis and so much more. I was placed on toprol 2 years ago for a heart rate of 200 and been on klonopin for terrible anxiety and remeron for depression. I went to a chiropractor and now I no longer need these meds because he manipulated my spine as I have four curves, and corrected my dysfunctional autonomic nervous system. My heart rate resting is 54 and does not get higher than 85 doing regular activity. My anxiety is dramatically decreased. I thank God for leading me to the chiropractor. Now today, off to accupuncture and hopefully my fourth and final med will be over. Do no be dismissed. Do not stop researching and educating yourself. Get your blood work done every 6 months as EDSers also loose vit D which leads to bone pain and fatigue. I have been fighting for 10 years for someone to hear me. I have become addicted to medication. Thrown out of ER's. Lost my integrity and self respect and I am a disabled US Army Veteran and an RN for 18 years. Do not think the medical field knows all there is about this disease because as my counterparts do not know all and compassion in the medical field has gone out the window. Even I as a RN did not know all that I taught myself about this disease and when other nurses are told what I have they look at me with this lost look on their faces and I as the patient educate them. People will run from you, because we are Zebras. They dont know if we are black with white stripes or white with black stripes. The unknown is scary to those who are well educated and think they know everything. Try not to take their actions personal because they just dont know. No educated person likes to be made to feel stupid and when u know more about your condition than a Harvard educated Doc, that is intimidating. Just try make them feel on top of things because fact is, most think they are God and your life is in their hands if you allow it. Educate yourself. Good luck and God Bless.

[Chez1 in reply to Country4eva]

Thank you for this - I have just started to get pain in my forearms for no apparent reason - oh isn't it fun!!!! My left thumb is the most painful at the moment this is the one that I can "take out of its socket" - don't know how else to describe it. which is why I looked into it in the first place, they just say oh yes that is loose.