Joining the dots and hoping for diagnosis..but it may be something else?.. and can be genetic?

Hi everyone. I am following a path (hopefully) to diagnosis..It has been a very long journey where I have been diagnosed and undiagnosed with MS.Diagnosed with fibromyalgia, and have many symptoms left hanging in the air,some of those being severe enough to hospitalise me several times over the years with no conclusion..and I live half a life due to illness,pain and disability which wax and wanes.

Along this journey I have had to do my own research (credible sources) and become vigilante with doctor/specialist appointments..I am aware diagnosis can sometimes be difficult with overlapping conditions making it tricky. But with Some doctors/ specialist attitudes making us feel demoralised,It can be an awful existence pre-diagnosis..I have withdrawn from pursuing diagnosis many times over the years because of the added stress and strain it has brought..

After recently trying to join the dots of my symptoms (doctors and specialists seldom do) I find I am looking at another condition,that being the vascular form of Ehlers Danlos syndrome (I have now posted on the EDS community) and I feel I have a foot in both camps.My medical history and symptoms appears to fit EDS, but so do many fit with some forms of vasculitis.

I am due to see a rheumatologist at Manchester Royal next week for my follow up appointment,and I am planning to raise my concern (and depending how it goes) ask for a referral to a geneticist who can diagnose EDS. I am not only concerned for myself, but my son also experiences many of the same symptoms and fits the EDS criteria, and he was diagnosed with ME some years ago..

Because my research has taken me to the possibility of a different condition,so much hangs on this next appointment as I hope it leads me closer to the answers..not now just for myself, the priority(as always) is my son..

Thank you and best wishes.

12 Replies

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  • Joining the dots..continued..

    I also want to say that because another possible condition has come to light,it has left me feeling in two minds- 'all fired up,to go full steam ahead' for diagnosis-.. but what diagnosis will I now accept? and will I be satisfied with it without genetic tests?-maybe not- and so what to do?..and then what?.Sadly my trust and belief in medical professionals has declined in the ten years..

  • Hello Tillyray,

    It sounds like you're been to hell and back over the years. I have only been diagnosed with Vasculitis this year after a 3 year journey through tests etc. one of which was a genetic test to find out whether this may have caused my sight lose; l didn't tell the family until after l had the results, which were negative, thankfully.

    I hope your appointment this week will be useful but if not why not check out the Vasculitis UK website - if you haven't done already - and contact John Mills for advice; what he doesn't know about Vasculitis can be written on a postage stamp. :-)

    Sally

  • Do contact the VUK helpline , Lynn or John have extensive knowledge of vasculitis and other diseases hat can mimic vasculitis. The helpline number is 03003560075 or you can email John or Lynn. John.mills@vasculitis.org.uk lynn@vasculitis.org.uk . Who are you seeing at Manchester? do you know?

  • Hello TillyRay my daughter has been diagnosed with EDS after a battle with pain and dislocations. It's a rare condition but at Manchester Royal Infirmary there is one of the countries leading Rheumatologists in EDS, Pauline Ho. She is fabulous. My daughter needed blood tests, CT Scans, Heart Scans and several MRI Scans to confirm diagnosis. I am sure Manchester Royal Infirmary will be the best place for a firm confirmation if you do have EDS. Good Luck x

  • Hello Wakefield.I am going over posts to find information that may help me, and I read that you said your daughter saw rheumatologist Dr Ho at Manchester Royal..I have posted that unfortunately my follow-up appointment there was not a success, as even though I was told I have hypermobility EDS and "it looks like some vasculitis" I was still discharged!..

    When I explained about my sons illness, symptoms and features etc,I was also told he will have hypermobility EDS aswel and he should get a referral to a rheumatologist, but she didn't suggest who or where..

    I am confused,upset and still angry about the treatment(lack of it) that I have received..But I am researching how to plan the next move for my son and myself, and I wonder if you feel able to,if you could tell me more about you and your daughters experiences with Dr Ho.

    Thank you and very best wishes x

  • Hi Tillyray. Sincere apologies for the delay. So sorry you have been unhappy with your treatment at the MRI. Beth had all her tests initially at Salford Royal who initially suspected EDS. She was referred to Dr Ho who did further MRI scans, blood tests and and Echocardiagram (where we found out she has Mitral Valve prolapse) all these tests gave. Positive EDS diagnosis. She was then fitted with specialised sling to support her shoulders (her main area for dislocations) and shoe supports to help align her hips. Then followed 6 months of specialised Physio therapy where they gave her a daily exercise programme, she also had hydrotherapy for the days when she was into much pain to do her normal programme. She was over weight and advised to loose a little She was told she had to exercise lightly every day, and Beth found this did help a lot. If she doesn't move and do her exercises daily she feels alot worse, as a result Beth lost 3 stone in a year. The Hospital discharged Beth after all her programmes were complete with instruction from Dr Ho that if Beth ever needed her to ring her secretary directly and she would get her in. We have needed this service once only up to now. Beth got to see Dr Ho within a few weeks. There is no cure for EDS and we do not know what lies ahead for Beth as every patient is different, But Beth seems happy and in control of her health now with the help of Neurotriptyline at nighttimes. We are very happy with her treatment at both Salford Royal and the MRI. I do hope you get sorted with a confirmed diagnosis soon. Good luck Tillyray x

  • Ps forgot to add Dr Ho gave Beth a diagnosis of Fibromyalgia as well as EDS x

  • Good morning and thank you for replying with you and your daughters experiences.I am so happy to hear that it was all very positive for Beth and that it sounds to have really helped..I have been gathering information and finding out where to go next.Hopefully everything will become clearer and easier to deal with once we know what we are faced with.

    I wish you and Beth happiness and the best of health.x

  • Thank you and good luck. Wishing you a healthy and happy Christmas. Take care x

  • Hi Sima, thank you for taking the time to reply.I am sorry to hear of your struggles, but I am glad that you were finally able to get a diagnosis and now hopefully receiving the treatment you deserve.

    I have been in contact with John who has been supportive and given me helpful information.

    Very best wishes and good health x

  • Hi Suzy. Thank you for your reply.I have contacted the VUK helpline and both Lynn and John have been very helpful and supportive...

    I most recently spoke with John who offered me advice and asked if I might email him my medical history that I had prepared for my rheumatology appointment. After receiving it,he then gave me his considered opinion regarding the possible vasculitis conditions I might be suffering with.

    After an almost eight month wait (the hospital cancelled it once) I am now waiting to attend my appointment next week and take it from there...

    It was John who recommended I get a referral to the Manchester Royal. The consultant I am seeing there is Dr Rachel Gorodkin. I was in two minds after my last appointment as it drew no conclusion and I was given a long wait until my next one. Dr Gorodkin was unsure as to whether my 'extra' symptoms were due to my existing fibromyalgia or something else. But she did say that I had some hypermobility..

    I have had nerve conduction tests in this interim period,due to the ankle tendonitis that had developed suddenly five months before, leaving me with pain,swelling and a 'drop foot'.

    Thank you once again.Best wishes x

  • Hi Wakefield.Thank you for taking the time to reply.

    I am so sorry to hear that your daughter has an EDS diagnosis. But I sincerely hope that now you have it, your daughter is receiving all of the treatment and support she deserves. It certainly sounds like you have found a wonderful rheumatologist to look after your daughters health, and this must be of great reassurance to you all.

    I have read and heard good things about the Manchester Royal, and so I hope it will be a successful visit for me. Thank you once again. Very best wishes and good health to you and your daughter x

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