Awaiting genetic testing for our 8 year old

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  • #182461
    Awaiting genetic testing for our 8 year old

    Hello, we have an eight year old daughter whose symptoms of peripheral neuropathy came on suddenly 5 months ago she had previously been very healthy and very able at sports – following clear CT and MRI scans of brain and spine in addition to clear lumbar puncture tests the paediatric neurologist began genetic testing following a nerve conduction test which said that nerve function in the hands and feet were slow. So far In terms of results we know that she has tested negative for
    friedreich’s ataxia and that there are ongoing tests to establish a genetic cause. At our last appointment the neurologist said that she was going to go ahead and refer our daughter to the neuromuscular team as she believes that she does have a neuromuscular condition and that the ongoing genetic tests aimed to identify the condition specifically. My lovely daughter is really amazing and taking everything in her stride – but I am really struggling emotionally and a little out of my mind with worry -the neurologist never disclosed what was being tested for and I was quite taken aback that the first genetic panel requested has been for a condition as progressive as FA – I understand that neuromuscular conditions vary in how progressive they can be but I’m not sure if my daughters symptoms are progressing slowly or quickly I know that between October 2018 and May 2019 she lost the ability to ; hold her pen conventionally and write as well as she did before, do monkey bars, swing on a rope swing, climb a climbing wall – all things she could do with expertise and strong ability previous to this. To me this feels like rapid progression but the neurologist said she doesn’t think it’s rapidly progressing although she said she could now see muscle wastage in her hands we are trying to stay positive but I am unable to sleep with the worry which I guess is to be expected but any support you can offer would be greatly received at this point in time as I’m honestly feeling pretty daunted and more than a little fearful
    Kindest thanks
    Kate :new:

    Khurry
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    Joined: 31/10/2019
    #182552
    Reply To: Awaiting genetic testing for our 8 year old

    Hi Kate

    I am not a parent so can only try to put myself in your shoes. My Mum has told me in later years about what things were like searching for answers when I was a child. She was told she was a neurotic mother at one point!!

    I think this wait for diagnosis brings with it all sorts of emotions, some of which you have mentioned. I hope in your daughter’s case, that you get some answers soon so you can begin to process what may be ahead. It is important to remember that if it is a neuromuscular condition, there can be a variation of symptoms and progression within sub-types plus we are living in a great time of medical knowledge and technology.

    I have a congenital type and you might consider me to be severely disabled but I have learnt to adapt, take a different path to get to where I want. I’ve travelled, worked, met some fab people and continue to with the help of a great care team and numerous bits of equipment. Life is pretty good although I can’t deny it has made me become resilient and develop a lot of patience.

    Please don’t hesitate to ask any questions or simply share or vent your frustrations. There isn’t one way to react but be good to yourself and keep checking back as I’m sure others will offer you support as well.

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
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