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First MND clinic visit

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    First MND clinic visit

    Today I had my first visit to the Addenbrooks MND clinic. I really wasn’t sure what to expect but I was really surprised at how kind and helpful everybody was. I saw the physio, dietitian, speech and language person and the consultant and really felt like I was listened to. The less positive bit was that my genetic test has come back and I have the C9orf72 gene. The hard bit now is that we have to talk to our children about it and what it might mean for them. It breaks my heart that there is a chance that some of them might end up with this disease and I won’t be here to help them through it 😢

    #2
    Karen62 Sounds like you had a full on day Karen, I'm glad you found the clinic staff goo and friendly too.

    You're right, the C9 designation throws a spotlight on your children, which will be tough on you all to go through but I'm sure Addenbrookes offer good support, should the children decide to follow through on testing.

    For tonight, I hope you have your feet up and have a glass or a mug in your hand.

    Love Ellie 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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      #3
      Karen62 what an emotional day. I really hope you receive extra support whilst your family come to terms with the gene results. Much love x
      Diagnosed May 2021 bulbar onset als.

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        #4
        Ellie, thank you, the consultant was so kind and has offered to speak to all 5 of them if they want to at my next appointment to explain things and answer their questions which meant a great deal to me.

        as for this evening, the feet are up and as much as I would love a glass in my hand, I am happy to settle for my tigger mug 😊x

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          #5
          Originally posted by shelly21 View Post
          Karen62 what an emotional day. I really hope you receive extra support whilst your family come to terms with the gene results. Much love x
          Yes it has been emotional, but Addenbrooks have been great so far x

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            #6
            Karen62 - sounds like a tough day, but with glad that you have support to help you and your family with this xx
            Diagnosis confirmed Jan 2022 (age 46) after several years ignored/ misdiagnosed.

            Symptoms began in left foot 2017. Now mainly left side, speech and some loss on right side too.

            Unable to walk unaided (powerchair user), poor speech, left hand behaves like a drunk toddler but generally positive and determined.

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              #7
              TinyLady a tough day for us both I think, I really do hope you get the support that you need xx

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                #8
                Glad it was a positive experience for you, although the gene thing is an issue but you are dealing with it.
                I wish I could see all those specialists in one place. All my appointments are for one at a time and spread all over the calendar.
                I still haven't seen Speech and Language, and my OT seems to have vanished off the earth and I need her to look at my proposed house adaptations.
                Hi, I'm Eddie.
                Started with wobbly left ankle in Nov 2020. Diagnosed 22 Oct 2021, confirmed by 2nd opinion 4 days later.
                Still walking and talking, and wondering what the future will bring.

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                  #9
                  WheelsOfSteel I know I am fortunate to have seen everybody at once i5 do3s make it easier.

                  my biggest battle here is wheelchair services, I am still waiting for it to be delivered because they are waiting for parts.

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                    #10
                    Karen62 can you tell a fib and say you fell and its needed urgently x
                    Diagnosed May 2021 bulbar onset als.

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                      #11
                      shelly21 😂 I told them that I had another fall (I had)and it didn’t phase them!

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                        #12
                        Back to the chicken and the egg issue. C9 gene is a big factor in current research, yet the truth is that the science is not there to show if you were born with the C9 repeats you currently have, or if it were triggered by some other cause during your lifetime. Getting your Aunts, Uncles, and nieces/nephews tested may show it likely is a familial issue, but even if your own children has C9 repeats, it may only mean that you were all exposed to the same environmental factor that triggered the repeats. Even with the most advanced science it is not absolutely conclusive that this is familial until other members of the family come down with this monster.

                        Optimistically speaking, I hope your C9 repeats are not shared with your family.

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