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with Some doctors/ specialist attitudes making us feel demoralised,It can be an awful existence pre-diagnosis..I have withdrawn from pursuing diagnosis many times over the years because of the added stress and strain it has brought..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.

7 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

  • 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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