I ve finally got my diagnosis of eds3 jhs after spending the whole 40 years if...

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  • If you have already been to genetics for your full diagnosis you can get a referal straight to them for your kids once diagnosed, they actually asked me to bring my kids to the second appointment but my son had exams and was sure he didnt have it but a referal was put through quickly once he asked to be checked

  • While they are under 18 see if you can get them in to see Professor Graham in London. He'll be able to diagnose and discuss plans

  • Prof G has apparently retired.

  • Oh no! That's a shame.

  • This is what we did too :) x

  • I think there is a long waiting list for professor graham and he is private only now. My diagnosis was through bath hypermobility team not a genetics doctor but she did check for signs of the other types as my cousin has a rarer type of eds. She suggested bristol but i don't know anything about them. London is a push for me as being in a wheelchair and my pelvis constantly moving and slipping long drives are agony. My oldest 2 can wait until they are 18 but the youngest is 14 and also the worst affected. She has had crps and been wheelchair bound and has lots of breaks and tears to ankles and knees. I may look into professor graham as a fb friend took her son to him last month, I just know it's a long wait.

  • Hi Sorrel, So sorry to hear about your struggle to obtain a diagnosis. I really feel for you. I am 66 and only managed to obtain mine last year ! My niece has also recently been diagnosed. If you are prepared to ask for a referral and travel to Exeter to see the consultant clinical geneticist, Dr Charles Shaw Smith, I think you will be pleased. The treatment and follow up report my niece received makes mine pale into insignificance ! Wishing you all the very best. S x

  • Thank you. Wow that was a long time you had to struggle alone :( I really don't know if a geneticist could help us ss you can't test for it through blood work and we have more invisible symptoms such as bowel and tummy issues as well as bruising and then teeth and gum problems and the list goes on x

  • The geneticist that diagnosed me told me there was no point in seeing my kids as under 18 they can grow out of hypermobility and there is no way of distinguishing - her words not mine. Later another geneticist diagnosed her with hms partly based on my history. I have diagnosis of eds 3/hms myself but people still refer to it as all sorts of different things and the last person I saw was more interested in discussing 'fibro' - I also have pots as well and he was more keen on the link between pots and fibro than with the eds which is the link the pots specialist has established! This has really annoyed me as as far as I'm aware what I think he was getting at was the fact that physical deconditioning had caused my pots when the specialist has said about stretchy vessels with eds! I do use crutches but do try to keep moving. I was livid. My point is that in my experience I think regardless of diagnosis, whoever you see has their own opinion of what they think is wrong. It infuriates me.

  • It is definitely infuriating and I could scream sometimes. It drives me crazy that they say things like kids can grow out of hypermobility...well yes they can but if they have jhs/eds3 it's not just hypermobile joints is it. There are so many more problems inside the body that you can't grow out of or even treat. I have now got 5 different diagnosis lol. But the fibromyalgia/central censitization is something that happens to people who are in constant pain. It doesn't replace the reason for the pain in the 1st place and the same goes for deconditioning.

    They all seem to have a different view to eachother and it's so frustrating. In 2 years I've been diagnosed with symphysis pubis dysfunction, fibromyalgia secondary to joint hypermobility, central sensitization and joint hypermobility syndrome with influences of eds type 3! I just want my 3 daughters to be given the help they need if they decide to have children of their own in future.

  • Totally agree with you. I don't at all dispute their idea that when someone has been left in pain for too long they will react differently - I just hate the way they pin everything on it. I sound exactly like you - I have spd, Sijd, eds 3, fibro, chronic fatigue and pots diagnoses. And that's before I even think about my digestive system and others that it's Tmi to mention! I think we are too complex for them - it makes them feel better to reduce it down to something they sort of understand!!

  • At Poole hospital (Dorset) Dr Rahmeh is a rheumatologist who sees adults and children, her specialty is connective tissue disorders. There is also a hypermobility physio I see called Jackie at Poole hospital. My daughter is under Stanmore and she sees a local physio at Christchurch hospital who did Eds as part of her thesis.

  • There is also dr Bruce at Bournemouth hospital, cardiologist, who sees pots patients.

  • We all saw the rheumatologist at poole hospital and also a hypermobility specialist physio called elaine but it was her boss who's name I can't remember who decided without even seeing me that it was fibromyalgia. Is Dr Rahmeh still there? If so I will definitely ask for my 3 daughters to be refered to her :)

  • i saw dr Rahmeh about 3 months ago.

  • Thanks that's great. I'll ask my GP to get a referal for my girls :)

  • I'm under Dr khurshid at Poole. He barely speaks had yet to even examine me let alone tell me what's going on except to say I should stop all pain killers and amitriptyline as they are useless for chronic pain! Gave me facet joint injections which have not helped. I go back to see him in 2 weeks and am not feeling very confident :-(

  • He sounds as bad as the one that diagnosed me without ever seeing me. At least yours saw you. They can't make you stop any medication though. Some have said that to me before but my GP knows me much more than they do and obviously I know myself so I know if things are helping or not. I'm very glad I went to bath as they are much more specialist there whereas general rheumatologist don't understand the condition. I have been told no injections will help as it's my whole pelvis that slips and causes pain but all other meds are working to a point. Even the pain management team can't tell ys to stop taking meds x

  • My next ask was to try to get to pain clinic. I just need to talk to someone about coping and pacing but my Gp says I have an overinflated idea of what the pain clinic can do. Consultant said he would consider referring me so will push for it. My main problem is my whole pelvis and left hip now.

  • The pain clinic run lots of workshops for groups but also do one to one appointments. They have a psychologist as well as OT, physio and pain nurse. They work on pacing and coping strategies as well as reducing medication if you want to. I've only just gone back over to the poole one so at the start again with it and hopefully it will be helpful.

  • Sorrel Mckee That's what I need fingers crossed he'll refer me this time. Sometimes just need to talk to someone who gets it :)

  • Exactly :) good luck.

  • Thank you, you too. My next battle will be for my daughter although she's 19 so will have to battle for herself !

  • The same as me. My 3 are teenagers but early diagnosis and support should help them avoid all this pain later on.