Neurology Visit

Well i have just received an appointment to see my neurologist this coming Sunday at 9:30. I am hoping for results of any description to be back now. My genetic test has been in Italy for almost 12 months, St Mary's, Manchester sent it there, not sure why though.

I have been diagnosed with ataxia for about 2 years but as yet we don't know which variant. My brother also has ataxia and his consultant thinks his is episodic type 2. My symptoms are more inline with friedrichs ataxia.

My brother was diagnosed 6 years ago but his genetic test has been recalled and sent to Italy with mine, again we don't know why.

This sunday i shall be taking a list of questions with me, determined to get some sort of answer lol. Will update blog on Monday.

I really would like answers as currently in limbo, if i knew roughly what to expect i could deal with it, up to date all i know is that just over 2 years ago i had a full time job entailing sleep overs etc and now i need help with everything, use a frame in the house, had to move into ground floor property as i couldn't manage the stairs and have to use a wheelchair out of the house. It is hard to explain but I don't feel that I am me anymore

7 Replies

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  • I do hope you get some answers this visit , it is no fun waiting for any test results but this sounds as though it has been dragged out for you . Lets hope Sundays visit puts your mind at ease ....good Luck with it Nana23

  • thank you Razzy, xxx

  • It took three years for me? I hope you get your answers?

    I have MSA a faster moving Ataxia.

    Regards Daphne(dleif55)

  • hi daphne, hope you are well as you can be. not heard of that one before. i have just visited my gp and been warned by him it could take up to 10 years for a full diagnosis :( or there may never be a definitive answer. we shall see what happens on sunday xxx

    moira xx (nana23)

  • Hi nana23.....I was diagnosed over 3 years ago and genetic testing hasnt found which one I have although my consultant in Oxford thinks it might be type 3.

    Its alot of waiting around I know but you'll get there in the end.

  • hi lonesome, thanks for your comment. i'm getting the general idea that i shouldn't get my hopes up for a diagnosis,especially after speaking to the gp this morning. i'm going to have to learn to be more patient lol.

    moira (nana23) x

  • Thats all you can do.....samples of blood from all my family have been taken to see what differences there are between my blood and healthy family type blood......seems there are only certain standard tests available and my 'faulty' gene may have mutated.

    Only way to possibly tell, is to do it this way.

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