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Experiences of genetic testing

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    #16
    Originally posted by LindaB View Post
    When I was 1st diagnosed the consultant mentioned genetic testing however at the time I wasn't sure....still not sure of the benefits?
    Potential benefits include:
    Precision medicine, arguably the most important reason for knowing your genetic type - for the future really, but next week is the future....
    Clinical trial participation for gene-specific trials.
    Knowing what you're up against, though whether this constitutes a 'benefit' for some people is debatable.
    ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
    Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

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      #17
      Ellie that really makes a lot of sense. X

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        #18
        Ellie thanks for the info...

        Regarding precision medicine I think you're saying there isn't any yet but there may be in the future?

        I feel I know so little...need to have a read & rethink🤓
        Initial diagnosis 7-4-2021 'suspected MND' confirmed by 2nd opinion 4th June 2021 ALS. Began with R foot limp and lots of falls. NIV overnight. Generally weak. Mostly terrified.​​​​​​

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          #19
          Linda I do quite a bit of reading about the whole neurological conditions effecting the motor neurons and have learnt a lot. But the science and research and trials I really struggle to understand. I can't seem to get it at all. I thought stem cell treatment and building mitochondria were making progress in USA but can't ever understand how and why its not being implemented. Sorry totally gone off on a tangent with this! But there is a lot of information online. I have days when I really want to know and others when I can't face reading anything and get absorbed with iplayer instead!! Xx

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            #20
            I suppose my worry is the impact genetic testing could have on my daughters and grandchildren.
            However as said I know very little....need to rethink...
            Initial diagnosis 7-4-2021 'suspected MND' confirmed by 2nd opinion 4th June 2021 ALS. Began with R foot limp and lots of falls. NIV overnight. Generally weak. Mostly terrified.​​​​​​

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              #21
              Originally posted by LindaB View Post
              Regarding precision medicine I think you're saying there isn't any yet but there may be in the future?
              Kinda, sorta 😏 The greatest advances right now are being made in the treatment of C9 and SOD1 variants and prevention, in the case of C9.

              Yes, in the future, but the future may be just around the corner. xx
              ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
              Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

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                #22
                Originally posted by Zante View Post
                I have days when I really want to know and others when I can't face reading anything and get absorbed with iplayer instead!!
                Honestly Zan, you may be better off enjoying yourself and escaping into a boxset.

                So many much-heraled 'breakthroughs' in the MND world are damp squibs, that reading this and that can be a waste of time, energy and emotion. When there is a genuine and proven treatment, I guarantee you'll hear about it 📢🔊

                Don't feel bad about not being able to sift through hundreds of pages of (what turned out to be) 2 Steps Forward and 1 Step back Scientific Papers 🥴 😘
                ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
                Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

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                  #23
                  Originally posted by LindaB View Post
                  I suppose my worry is the impact genetic testing could have on my daughters and grandchildren.
                  Yes, that is the dilemma, not an easy decision. xx
                  ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
                  Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

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                    #24
                    Originally posted by Ellie View Post
                    Honestly Zan, you may be better off enjoying yourself and escaping into a boxset.

                    So many much-heraled 'breakthroughs' in the MND world are damp squibs, that reading this and that can be a waste of time, energy and emotion. When there is a genuine and proven treatment, I guarantee you'll hear about it 📢🔊

                    Don't feel bad about not being able to sift through hundreds of pages of (what turned out to be) 2 Steps Forward and 1 Step back Scientific Papers 🥴 😘
                    I think you totally hit the nail on the head there!! I have read pages and pages and came away more confused than I did to begin with ! I did chuckle at I will hear all about it when a cure is found !! Thanks as always. Right.... I feel a "you don't know me " episode is due!! Xx

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                      #25
                      No spoilers Zante lol I'm saving it for next week😇🤐
                      Initial diagnosis 7-4-2021 'suspected MND' confirmed by 2nd opinion 4th June 2021 ALS. Began with R foot limp and lots of falls. NIV overnight. Generally weak. Mostly terrified.​​​​​​

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                        #26
                        That takes a lot of dedication LindaB not to watch it all in one go well done!!!

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