Where to get help on diagnosing EDs.

[honeybea22]

Hi, Where can I go to get genetic testing done for Ehlers Danlos. I live in East Sussex in the UK. I am in my 50s but my 2 adult daughters have so many symptoms of EDs and one in particular is suffering severely with pain. Her g.p. has no interest and just tells her its in her head. She did see a Dr at the hospital and he said she has hypermobility, and marfan features but he said she just falls short of EDs!! She has been so ill and the pain has made her bed ridden, she lives miles away and alone and I can't get to her to help her. If she had a diagnosis at least they would help her with the pain and maybe give her some support. My other daughter also has many symptoms and has been ill for a long time now, but her g.p. doesn't know why, neither do I. I feel the best thing to do is if I get genetically tested then at least then it should open the door for my daughters to be tested, as there is no way the g.p. is going to help the youngest one. Between the 3 of us we all have a great deal of symptoms of EDs, but it would be nice to know one way or the other if I/we have it. Please can anyone give me any advise how to get the help we need. My g.p. is helpful so its going to have to be me that starts this ball rolling.

[Itsallinthehips]

I would love you know this as I live in East Sussex to and want the genetic testing for it x

[honeybea22 in reply to Itsallinthehips]

Hi, what a coincidence. I need to get help for my daughter as it is making her suicidal with the pain, she feels she can't go on anymore but she has the most awful g.p.s at her surgery. They don't listen to her because she has a personality disorder so they put almost everything down to that/attention seeking. She's been like this since she was 4 years old with this pain. If I don't step in and do something I worry as to what she might do, so getting myself tested ( as I do have some symptoms) might start the ball rolling hopefully. I just need to find out who is the best person to be referred to and how to help my daughter/s. Do let me know if you find anything out yourself, and good luck.

[Itsallinthehips in reply to honeybea22]

Yeah I’m only 28 and bed bound and have a 5 year old life is hard, I’ve got it in my hip and had it over three years now although I had it before but didn’t realise.

Has she seen a rheumatologist? Since I got referees to them and the pain team in the horder centres it changed a lot I’m now going to bath this week for a pain input program for an assessment and if i get in I go there for three weeks and they help teach you how to deal with pain and get a bit of your life back. Has she ever had anything like that? What is it specifically that’s hurting her?

[Bek85]

If she’s hypermobile and in this much pain then it’s very possible she has at the very least got hypermobile EDs. There is no genetic test as of yet for hypermobile Eds as they haven’t identified the gene that causes it.

It’s the only form of EDs that they have no genetic testing for.

My best advice would be go back to your GP and insist that she is referred to a rheumatologist that’s your starting point.

If her doctor does not take her symptoms seriously then change doctors until you find one that does.

There are some absolutely fantastic Ehlers Danlos groups on Facebook, really supportive and informative, I would seriously think about joining them. You don’t need a formal diagnosis to be in the groups.

[cyberbarn]

If you have a good GP then you may be in luck! As others have said to get genetic testing you have to either have one of the very rare types for which they know the underlying genetic cause, or have a complicated case where they can't tell clinically which type it is.

However, the Royal College of GPs have published a EDS toolkit so that GPs can now diagnose hEDS and HSD! So take the link with you to your GP and get them to look it up there in front of you. They might want to then go back and read it before they diagnose you, or they may do it there and then if they have the time. If you familiarise yourself with it and print off the tick box page already done for yourself, you can show that you have some of the symptoms already.

rcgp.org.uk/clinical-and-re...