Anyone with EDS or Hypermobility Syndrome? — Scope | Disability forum
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Anyone with EDS or Hypermobility Syndrome?

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Androgen
Androgen Community member Posts: 86 Courageous
edited October 2021 in Rare, invisible, and undiagnosed conditions
Hypermobile EDS runs in my family (grandmother and mother have it diagnosed, me and my brother are still in the process)
It took my mother about 30 years to finally get a diagnosis, and since then (about 10 years ago now) she's been trying to get me and my brother diagnosed, but we're struggling to get official diagnoses, we have "provisional" ones from rheumatologists who won't confirm it because they're not a specialist, but they also won't refer us to a specialist because, despite having more hypermobile joints than not, I don't score highly enough on the Beighton scale (3/9)

I have frequent (multiple times a day) subluxations/dislocations of my shoulders, hips, and ankles, along with unstable knees, and pain in all of my joints, but because my elbows/thumbs/knees are only "mildly" hypermobile I apparently couldn't possibly have any problems with them, I've also found out that I have a hypermobile heart valve (mitral valve prolapse) and I have hypermobile ear joints causing my hearing loss, among other issues that come with EDS.
My GP has said that if the rheumatologist won't refer me then I "just have to live with it", which doesn't particularly seem right?

Wondering if anyone has any experience with getting a diagnosis or anything that would be able to help out?

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  • Adrian_Scope
    Adrian_Scope Posts: 10,938 Scope online community team
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    Hi @Androgen. I’m sorry you’re struggling to make any headway with the referral.
    From what I know of EDS, it can be a real slog to get anything resembling a diagnosis.
    Have you been with your current GP for long? Is there any option for a second opinion?
    Community Manager
    Scope
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  • Androgen
    Androgen Community member Posts: 86 Courageous
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    I've had my current GP for about a year and a half, so not necessarily long, but I switched because my old GP kept telling me it was all in my head and I was just depressed

    I don't know if I can request a second opinion, because I already had to do that after the first rheumatologist I saw turned up 25 minutes late to my 30 minute appointment, refused to even look at my joints, told me I don't have arthritis and sent me away (he also ignored my multiple attempts to explain that I'm deaf and he needed to look at me when speaking), so the whole thing was a mess
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  • Chloe_Scope
    Chloe_Scope Posts: 10,586 Disability Gamechanger
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    I'm sorry to hear you've had such a difficult experience with trying to gain a diagnosis. I too have heard it can be challenging for people to get an EDS diagnosis. You should be able to be referred to someone else if you are still unhappy with the outcome.

    I really hope they can give you access to the correct support soon :)
    Scope

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  • Androgen
    Androgen Community member Posts: 86 Courageous
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    It seems like currently my only option is to hope my GP actually contacted the Rheumatologist and wait for some kind of response that may never come (she said if they don't think it's worth further investigation then she won't push anything further)
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  • Adrian_Scope
    Adrian_Scope Posts: 10,938 Scope online community team
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    I’m sorry @Androgen. It’s hardly ideal is it? Do you feel confident your GP will follow it up? How long do you plan on waiting?
    Community Manager
    Scope
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  • Chloe_Scope
    Chloe_Scope Posts: 10,586 Disability Gamechanger
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    Morning @Androgen, I'm sorry to hear this. That cannot be easy. Please do keep us updated.
    Scope

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  • Androgen
    Androgen Community member Posts: 86 Courageous
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    She typed out something while I was there, but I'm not actually sure if she sent it anywhere, and she didn't give me any kind of time frame, just said it might be a few weeks before they get anything back
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  • Adrian_Scope
    Adrian_Scope Posts: 10,938 Scope online community team
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    Let us know how you get on @Androgen. I really hope you start to make some progress with it.
    Community Manager
    Scope
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  • Kit_
    Kit_ Community member Posts: 31 Connected
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    Hi @Androgen I know this is an old thread but your story sounds so similar to mine. I hope you're doing ok now and managed to get some help & answers.
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  • Androgen
    Androgen Community member Posts: 86 Courageous
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    Hi,

    I did manage to get a new rheumatology appointment (that promptly got cancelled due to covid) and then replaced with multiple phone appointments that didn't go to plan, but eventually was given an appointment with a rheumatology nurse and still waiting for something back from her, so not much has really changed! Do you mind if I ask if you're still in the process or did you eventually get an assessment?
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  • Kit_
    Kit_ Community member Posts: 31 Connected
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    I saw a rheumatologist who specialised in 16-24 yr olds (I was 22-23 at the time) who had a lot more experience with hypermobility than the 1st rheumatologist I saw (who was only interested in ruling out arthritis). Unfortunately there aren’t many like her in the NHS so it’s hard to see someone like that. I’m 4/9 on the beighton so got a diagnosis of HSD, I would’ve preferred to get some extra tests for EDS but unfortunately they wouldn’t agree, but I got to see a specialist physio and OT which was a big help. 
    It took me 3 trips to the GP after I realised I was hyper mobile (I’d had pain for years but didn’t know the cause) to get the referral and she really didn’t want to refer me, she kept saying I wasn’t in enough pain/my condition wasn’t serious enough, but I insisted. You may have to ask to be referred to a rheumatologist in another area who has more knowledge in hypermobility and EDS. It will be a longer wait but you might get better treatment at the end of it. Also learning to really state how much pain you’re in and keeping pain diaries can help convince a dr that you need help. They don’t make it easy but if you keep making appointments they do something eventually. 
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