April 13, 2019 at 9:04 am #177118Preimplantation Genetic Diagnosis
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,
GenevieveApril 13, 2019 at 12:39 pm #177125Reply 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.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015April 17, 2019 at 9:51 pm #177198Reply 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.
GenevieveApril 21, 2019 at 9:33 pm #177226Reply To: Preimplantation Genetic Diagnosis
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 Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015April 25, 2019 at 10:26 pm #177292Reply To: Preimplantation Genetic Diagnosis
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 FilipaAnaFLParticipantPosts: 0Joined: 08/11/2018April 28, 2019 at 3:43 pm #177315Reply To: Preimplantation Genetic Diagnosis
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
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