Hypermobile joint syndrome and h-EDS

[Kajarvie1985]

Hello,

I've just been diagnosed with hypermobile joint sydrome.

I've had significant health issues for about 11 years now but things got a lot worse over the past 6 months. I've had joint and muscle pains for more years than this but mostly self managed and saw an osteopath (which did help a bit) when things got bad as the GP wasn't much help.

I also have also had IBS type symptoms since I was a teenager but haven't ever really sought help for them. Just self managed again.

I also get very frequent migraines. I have sought help for this one but so far all the different preventative medication I've tried hasn't been effective.

I have recently also been given a probable diagnosis of chronic fatigue syndrome to explain my other symptoms (but this was by a neurologist who really didn't listen to me properly at all and actually wrote things that were inaccurate in my letter).

After reading a bit about it I think I actually have PoTS. I only found out about this after reading information I was given about hypermobile joint syndrome. I read about it and it really fits my symptoms and did an active stand test at home and I fit the criteria.

I'm going to discuss this all with my GP when I see them on Friday.

There is something I'm confused about though that I was hoping you could help with.

What is the difference between hypermobile joint syndrome and hypermobile Elhor-Danlos syndrome? Are they actually the same thing?

[Tillyray]

Hi there. For more info, If you look on the Hypermobile association website. hypermobility.org HMSA. There is a lot of information about the Hypermobile syndromes and Ehlers danlos syndrome which is an hereditable disorder of connective tissue. There is also EDSuk. ehlers-danlos.org and If you look on the POTS website there may be additional help and information for you there. potsuk.org

I hope you are managing your condition and that you will be able to get the help you need for your symptoms. I have found that few Doctors/GP's have any real understanding of the complications of additional symptoms that may arise as result of having a hypermobile syndrome or EDS condition. It may be worth you taking relevant information - off the websites above- to give to all the Doctors/GP who will be caring for you.

Best wishes x

Ps..can I ask how you were diagnosed and who by?

[Kajarvie1985 in reply to Tillyray]

Thanks for your reply and help on where to get further information. I had already been on the PoTS site and found it very helpful.

I was diagnosed by a rheumatologist who I had actually been referred to with a question about whether I had Lupus or not due to some blood test results. The blood tests it turns out are likely to be a false positive but it has finally sent me down the correct path to diagnosis !

I have a GP appointment on Friday so am going to bring some printed information or website links with me.

I'm only in the early stages of managing it as I was only diagnosed last week. I have started taking regular pain medication on the advice of the rheumatologist to try and break the pain, stiffness, fatigue cycle. It is actually already helping the joint pain and stiffness so that's good.

He has recommended physio referral and assessment for orthotics for my shoes (I think that is podiatry but not sure). I'm assuming those referrals will happen when I go to my GP.

If I don't feel comfortable with the physio support I get on the NHS I am perpared to go private though. I am aware you really need a physio that has good knowledge of managing hypermobility to actually get useful advice.

Best wishes to you too x

[Tillyray in reply to Kajarvie1985]

Everyone on here will be happy to help. This is a supportive community, and I am grateful to everyone for supporting me..My son and I got diagnosed with hEDS -Hypermobility Ehlers danlos syndrome- in March. I had 10 years+ of steadily increasing debilitating symptoms and illness. I received other diagnosis' along the way and had little to no help from Doctors.I had to piece everything together myself and do my research in order to get our eventual correct diagnosis. With a correct diagnosis and knowledge of the condition, it is easier to move forward and begin to manage things 🙂..

Also, have a read about EDS to be certain it doesn't apply to you. My only reason for mentioning this is because general standard rheumatologists can not diagnose it, and are unable to recognise it. I saw many rheumatologists over the years and only one mentioned hypermobility to me which was no where near the full story.EDS is diagnosed by a specialist in Hypermobility, EDS. Or a genetics centre if it is an EDS other than hEDS as there is yet no genetic test for it..Good luck with everything.🙂

[Kajarvie1985 in reply to Tillyray]

Thank you. I'm glad you finally got there with your diagnosis and hope things are easier now you know what you are managing.

I have had a similar journey ...11 years now of health issues with no clear underlying diagnosis and getting worse! It's really tough but I'm pleased I'm getting there.

That is interesting regarding the need for a specialist rheumatologist. I was surprised after doing some reading that the rheumatologist who diagnosed me with hypermobile joints syndrome didn't ask me more about the autonomic symptoms I was experiencing or bowel symptoms. Maybe he didn't fully realise the significance.

I forgot to tell him about my unusual scarring and didn't think to mention that I have loads of stretch marks. But then I didn't realise the potential significnance. I would have thought they would have been things to specifically ask about though.

I have had a read of the new criteria for hEDS. I think I might fit the criteria but am not certain. I think I have enough things that would fit that it would be worthwhile get an experts opinion about it though.

Is there a list of hypermobility specialists in the U.K. anywhere?

I am aware that there isn't a specific gene for hEDS or hypermobile spectrum disorder but is it still worth seeing a geneticist? Would they be any help?

I am very interested in the potential heritability as I have a 2 year old daughter. Ideally we would also like to have more children but that is on hold and may never happen unless my health improves.

Thank you for any help/advice you can offer.

[Tillyray in reply to Kajarvie1985]

It is just awful having health issues that are not understood, and all the more worrying when your children are also affected with similar.. My diagnosis took so long because the Doctors and all consultants I saw had no knowledge of EDS or the signs or symptoms. Rheumatologists were also unaware, even with hypermobility and injuries being obvious. After much research and also help from members on here, My son and I went to London, to the private Hypermobility unit hypermobilityunit.org.uk

we saw Dr Alan Hakim who is highly recommended. Dr Hakim himself told me that only a specialist in EDS can diagnose it. I was able to tell him that I had become well aware of that!...

I have no experience of a genetics centre and I am not familiar with how that works, but hopefully someone else can advise you... Ring or email the HMSA for any information you may need.Dr Hakim is also their chief medical advisor! 🙂 x

[Tillyray in reply to Tillyray]

You can do another post to ask any questions. Everyone is kind and helpful. Let me know if I can help you further, I will be glad to.😊 x