TESTS NOW DONE AND AWAITING RESULTS

[LoolooLacey2]

I finally had my EMG and Nerve Conduction tests in November past, but have no had the results yet. The tests were very extensive, this is my 4th set of tests, but more done than ever before, so hopefully I will get to know the results soon. I do have a follow-up in April 2020 with the Neurologist I saw last July. Everything seems to take so long, like a year at a time. No word from the Genetics Dept yet either and it will be a year next month. So frustrating all this waiting around no wonder folk give up trying to get a diagnosis. Will keep you updated as we go along this year.

[Amanita]

Hi LoolooLacey,

Thanks for the update.

It does seem slightly surprising to me that you haven't been told anything at all about your EMG and nerve conduction tests. I was told a little about my nerve conduction test by the doctor who did it - because I asked her, but have never had an EMG. April does seem a long time to wait. But I suppose that as your neurologist was the person who referred you for the tests, she will be the one who makes sense of the results and can explain them to you - and hopefully draw meaningful conclusions.

Some consultant neurologists have very helpful secretaries. Would there be anything to be gained from contacting her and asking whether your April appointment can possibly be brought a little earlier as you are concerned that you have had all these tests and feel it is such a long time to wait without a clue as to what is causing your problems....? At worst she will say no and you'll be no worse off, but at least you will have tried.

All the best -

A.

[LoolooLacey2 in reply to Amanita]

Thank for your helpful advice once more. I have now had a letter from the Consultant Neurologist, who says the tests do not shed any light on my symptoms or my condition. It seems that all my problems may indeed be from my myopathy. However, a skin biopsy was next on the cards so will ask about that when I see her next. Also, no word from Human Genetics, I am going to phone them this week to see why it is now a year when I was told 4/5 months. At least I am going to physio now, had my first appt 2 weeks ago with a specialist Physio who deals only in things like MS (which I do not have), myopathies which I do have and other rare diseases of muscles and bone etc. I was gifted with 3 wheeled walker so I can get out for walks on my own on dry decent days. I have not had any bloods taken for genetics since way back in 2001 - those bloods were stored by Human Genetics and they have been sent away with the muscle biopsies to be re-tested. Will be back again soon with more info as it comes in.

[Juliej51]

Seems like a long wait as my daughter's just been diagnosed with CNT 1 same as me, she only had the tests in Dec 🙄

[gunner]

Hi lll2 I just wanted to say I didn't have to have all that I only had nerve conduction test & didn't need to wait very long but I got tested after I had finished my physio after knee opp. And the physio saw something that bothered him ie the Way I was walking, had the other physios who were there to look at me and agreed then that I may have CMT so I don't get why it takes so long. ? But I hope things work out for you and hope you don't have it as it's a horrible thing which very few people truly understand. Good luck 🍀

[LoolooLacey2 in reply to gunner]

Apparently I have always walked funny according to my family and now one of Consultants said in her letter to my GP that had had a sad life of pain and fatigue and walked with a waddling gait - thanks for that Doc made me feel wonderful - lol.