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A bit about my history....(Better late than never?)

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    A bit about my history....(Better late than never?)

    My mother was originally told she had drop foot syndrome. She had always limped, but, when on holiday in Italy, 1976, we noticed it was the other foot. I cannot recall how quickly a diagnosis was acquired, nor how quick her progress was. Whatever, she was wheelchair bound and using a possum within 3 years. Just about able to swallow a boiled egg, and to tilt her head left to right, and nod. We knew that liquidised food would be next. My father went on a holiday and mum went to the Royal Free in Hampstead for a break. It was there she died, while my father was away. Died once, was revived, but died again and then left. Right up to the end, she had a very sunny, happy attitude - she wanted to live. Nothing known about inheritance in 1979.

    Some time in 2018 Started noticing that my left hand was getting weaker, but didn't do anything. Around November, a single finger started locking (claw like), so i booked a docs appointment for December. His notes say: "Plan: Neuro NAD. I'm not sure what is causing this. Check bloods - if normal, for watchful waiting. FHy, MND,but this doesn't sound like that, and no signs of it. Tongue normal. FHy not known, both grandparents died in WW2."

    No idea what Neuro NAD means ...


    June 2019, went back about my hands, and trigger finger suggested. Doctor decided to send me to radiography cos i was getting pain across the nuckles when trying to squeeze things. When returned, got OA (some arthritic growth) in 3rd, 4th and 5th DIP joints. No explanation for increased weakness, er, decreasing strength.

    March 2020 - talked to doc about the pains in my left arm and said they felt like nerve pains, agreed that might be nerve entrapment.
    june 2020 - asked to be referred. long story short(er), Bloods taken and C9ORF72 found so they decided i had MND.

    Still wondering a bit as it (thankfully) not progressed very far!

    Mum died with MND in 1979 – I have a wonky gene, probably inherited from her. Reckon mine started sometime in 2018

    #2
    Dr Google suggests no appreciable disease

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      #3
      EvelynMW Neuro NAD is probably Nothing Abnormal Detected in your neurological exam, ie, reflexes, strength, coordination were all normal when examined by that doctor.

      Did you get a copy of your EMG test report? xx
      ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
      Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

      Comment


        #4
        No EMG been done as far as i know, just nerve conduction tests. Have i really got MND? time will tell

        PS @Gordon1111111 Thanks, that makes sense
        Mum died with MND in 1979 – I have a wonky gene, probably inherited from her. Reckon mine started sometime in 2018

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          #5
          EvelynMW You probably, or hopefully!!, had an EMG - it's usually done immediately after the NCS, and is the one where a tiny needle is inserted into a muscle, you're asked to maybe move a finger, and a crackling-type noise is heard. More than one muscle would have been tested.

          Do you remember having that test?

          The EMG is a vital piece of the ALS/MND diagnostic process which, in conjunction with clinical tests, are the usual criteria to diagnose it.

          Talk to your Neurologist and ask to explain to you how they are sure it's ALS/MND, if you have any doubts - you don't need that uncertainty / what if in your life Evelyn!

          Love Ellie.
          ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
          Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

          Comment


            #6
            Evelyn, you’re not alone with C9ORF72, me too. My niece (in her 30s) got tested and it came back positive but she’s still a-symptomatic. She and her soon to be husband (marriage delayed because of Covid and his mum’s cancer) want a family so are doing IVF and PGT to screen out any C9ORF72 positive embryos. Love Lynne x
            Last edited by Lynne K; 13 June 2021, 16:05.
            ALS diagnosed November 2017, limb onset. For the 4 yrs previously I was losing my balance.

            I'm staying positive and taking each day as it comes.

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              #7
              Evelyn NAD defo means "No abnormalaties detected" I remember it every time I went to ante natal with the urine tests!
              Husband Albert diagnosed PMA Feb 21

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                #8
                Got my next meeting over zoom, or something similar, in july. Will ask about EMG when i talk to the care centre. I reckon i don't get a face to face this time because of the slow progress.

                The breathing clinic is currently 3 monthly cos of some wasting muscle in my diaphram, but, assuming it hasn't worsened, those appointments will be further apart too.

                Interesting that my 1st doctor didn't think losing strength was MND, despite knowing my mum died of it. Nor did my second doc - had no thoughts about any neurological disease. This subject recurs through the forum - however, given the low numbers affected, and the huge amount doctors have to learn - i am not surprised they don't consider it. Nor would i blame them.

                My husband has taken the news far worse then I, so I will try and get him to join the forum, starting off just looking as a guest to see if he finds anything helpful.
                Mum died with MND in 1979 – I have a wonky gene, probably inherited from her. Reckon mine started sometime in 2018

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