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Preimplantation Genetic Diagnosis

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  • April 13, 2019 at 9:04 am #177118
    Preimplantation Genetic Diagnosis

    Hi All, :new:
    I am 32 years old and was diagnosed with myotonic dystrophy type 1 about 6 weeks ago. I am lucky in that my symptoms are relatively mild (currently my main symptom is difficulty relaxing grip) & I have a very supportive family but it has been a tough time with my dad and two of my cousins being diagnosed since and many more people are awaiting tests, including my four siblings.
    My question is about preimplantation genetic diagnosis as myself & my partner are thinking about going down that road. Has anyone been through it. What are their experiences? Wishing you all the best,
    Genevieve

    genevieve17
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    April 13, 2019 at 12:39 pm #177125
    Reply To: Preimplantation Genetic Diagnosis

    Hello and welcome Genevieve. I do hope someone will be able to help with your question as I am sure it has been a thought that many here may have had.

    Mike

    So many love songs, so little love.

    embayweather embayweather
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    April 17, 2019 at 9:51 pm #177198
    Reply To: Preimplantation Genetic Diagnosis

    Thanks Mike. Just wanted to put it out there that if anyone has experience of preimplantation genetic diagnosis but doesn’t feel comfortable discussing it publicly I’d be more than happy to talk over private messages. Floundering a little & would appreciate some support if anyone is or has been in a similar situation.
    Genevieve

    genevieve17
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    April 21, 2019 at 9:33 pm #177226
    Reply To: Preimplantation Genetic Diagnosis

    Hi Genevieve17

    I remember a while back, one of our members talked about her experiences of pgd. She featured in a BBC3 documentary and the threads to various topics are in our archives on this forum.

    Here is one link

    We are without a search function T the moment but if you type “TalkMD Shona” into google then you should be able to find them.

    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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    April 22, 2019 at 10:46 am #177227
    Reply To: Preimplantation Genetic Diagnosis

    Hi Sar78, thanks for that. I will try to connect with Shona although I can see it’s a while since she has posted here.
    Genevieve

    genevieve17
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    April 25, 2019 at 10:26 pm #177292
    Reply To: Preimplantation Genetic Diagnosis

    Hi Genevieve,

    I asked my neurologist about this and he explained the process to me. The first thing you can do is ask your GP to refer you to a genetic clinic. I don’t remember the specific name or the type of clinics. There are 8 in the country, depending on where you live. I know there is one in Cambridge, and one in London.

    He confirmed to me that our disease is covered by the NHS for PGD and IVF. He says the whole process takes about 1 year, so it’s a good idea to get started early. When I come back from my summer holidays I will go to my GP and begin the process.

    Here are a few links you can check: https://www.nhs.uk/conditions/ivf/ talks about IVF and getting started with it. https://www.hfea.gov.uk/treatments/embryo-testing-and-treatments-for-disease/approved-pgd-and-ptt-conditions/ is the regulator and talks about which conditions are approved for PGD.

    Ana Filipa

    AnaFL AnaFL
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    April 28, 2019 at 3:43 pm #177315
    Reply To: Preimplantation Genetic Diagnosis

    Hi Ana
    Thanks for your message. I have actually already had my first appointment with the genetics team (I went to Guys Hospital as it’s the closest place to me) to discuss PGD & IVF and myself and my partner have been referred to the PGD clinic at Guys Hospital which is the next step. In terms of how long everything takes I thought you might find it helpful to know that we were told before you can even start IVF they take bloods from you, your partner & the parents of whichever person is affected & use this information to make a specific genetic test & this process can apparently take up to 12 months. I’m still not really sure why this is necessary as DM1 has a recognised genetic expansion but apparently they do this for each new couple going through PGD.
    Let me know if you want to know more about the appointment with the geneticist as seems like I”m 1 step ahead of you in this process
    Genevieve

    genevieve17
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