to ask if anyone has done Preimplantation Genetic Diagnosis?

[MimosasInFrance]

I found out recently that I have a 50% chance of having inherited a genetic mutation which likely leads to a devastating illness in later life. This came at a time when DH and I were about to start TTC, and could not have come as more of a shock.

I'm pursuing Preimplantation Genetic Diagnosis and IVF to avoid potentially passing on such a gene, but it's all a lot to take in and I'm scared and overwhelmed.

Does anyone have any positive experiences of this? Everything I'm reading talks of low success rates and how difficult the whole thing is, and I know nobody else who has done it.

Thanks everyone - I really appreciate the advice. It's a very confusing and stressful time and hearing from others who have had similar experiences is very helpful.

I will certainly take up the genetic counselling (I am obliged to anyway to proceed with PGD) and will take their advice on board.

@Floundery

OP - forgot to say that my PIGD and IVF was done at CGH on Portland Street and they were great - they had a photo of baby DS in reception for ages, probably not there now, but it used to make me smile when walking past!

This is absolutely lovely and so nice to hear! I've heard good things about CGH - I'm in London so it's between there and Guy's I think.

@SaltedCaramelHC

Perhaps also be wary of what you might find out accidentally despite not wanting to know your own results.

I am at risk of something; it's not as conclusive as having the gene means getting the disease, but it's a big factor, especially with my family history.

I don't want to know if I have the gene. But I have inadvertently found out that it's fairly likely, simply because of the statistical likelihood of being in various groups in a general genetic study that I was involved in. I think the researchers hadn't realised how some of the results/comments would change what the participants knew about their own probabilities. And I was very upset at finding out in that way, almost casually, that the chances i had the gene were high.

For example, if you were told that none of the embryos/eggs was suitable for transfer - obviously there could be many reasons for that, but if you consistently got that result, when it was normally some percent that were suitable, that might inadvertently tell you that you were likely to have the gene

This is an important thing to consider, thank you. I'm sorry you were faced with that unexpectedl. I don't like thinking about there being a piece of paper floating around with my results on to be honest, I feel worried I might accidentally see it!

All stuff for me to discuss with the genetics counsellor I guess!

[quote BeautyGoesToBenidorm]@MimosasInFrance, yup, Dr Google has a lot to answer for!

Genetic counselling is a legal requirement if you decide to go through for predictive testing for Huntington's, is it the same for your mum's condition?

I was under Addenbrooke's hospital in Cambridge for mine, and they were phenomenal. They also made it clear that they were available any time after I got my results, for advice and support.

It's very hard to keep a clear head when you're confronted by a situation like this, so the impartiality of counselling is a welcome relief. They'll be honest with you and give sound advice. It might help to write down any questions you have before you go - I often forgot to ask things and kicked myself after appointments, but the overwhelming emotion gets to you like that and your mind just buggers off elsewhere 😅[/quote]
Yes I believe I have to have the genetic counselling before any potential testing.

Good advice about writing down questions - my head is spinning with them and it is a lot to think about. I'm a planner so I'm very aware I've launched into "sorting things out" mode and probably could do with taking some time to absorb everything!

I did array cgh which is similar. ICSI cycle as normal then day 2 embryos tested (for us it was about chromosomal normality as had previously had a t21 problem). In the end we had 21 eggs, 8 embryos, 4 normal. 1 hatching blast transferred, 1 stopped growing, 2 frozen (since to science as stopped at 1). DS is 9 now.
Good luck!

@MimosasInFrance, we're the same - I'm a planner too, and in the case of genetic testing, it was my way of seizing some sort of control over something entirely out of your control.

It was one of the reasons I chose to embark on the painfully long process. I felt an overwhelming need to plan for the future, for the worst possible outcome. What would happen to me, to my DC. Living in not so blissful ignorance wasn't possible, as I'm a terrible dweller on things!

Keeping a journal helped too, just getting the thoughts out. Be gentle with yourself, you're processing a terrible shock, and it's very lonely at times.

I was reading about PGD testing today and decided that I'm definitely going to do it this cycle.

It is successful but it really does depend on the clinic and the doctors they have! I've done months of extensive research on most European clinics (excluding uk due to the extreme costs) You need to find a clinic that employs embryologists full time, and that have the capability to test the little embryos on site.

You'd think that would be a given, but unfortunately, it's not.

I suggest talking with clinics beforehand, checking their teams, facilities and social media

@MimosasInFrance heyy I’ve just come across your post.

I’m currently going through the PGD process for a genetic condition that has a 50% chance of passing down.

I went with CRGH over Guy’s as their wait time was significantly quicker, I’m due to he starting treatment in July, I’m just waiting for my parent’s genetic testing results to come back and for CRGH to do my work up - they said if it is ready sooner then I can start sooner.

[quote Bellwells]@MimosasInFrance heyy I’ve just come across your post.

I’m currently going through the PGD process for a genetic condition that has a 50% chance of passing down.

I went with CRGH over Guy’s as their wait time was significantly quicker, I’m due to he starting treatment in July, I’m just waiting for my parent’s genetic testing results to come back and for CRGH to do my work up - they said if it is ready sooner then I can start sooner.[/quote]
Thank you for letting me know this - I went with Guy's, but I hadn't realised there was a significant difference in the wait time. I hope it all goes well for you - if ever useful to chat then do let me know, it's difficult to be the only person you know going through it.

Yeah sure, feel free to message me anytime!

Have Guy’s given you a rough start date?

Just so you know there is also a Guy’s PGD Facebook group which is very handy.

@MimosasInFrance sorry forgot to tag you in my previous message

I understand your reasons for not wanting to know if you have the gene. However putting yourself through IVF, nevermind PGD is a hugely emotional undertaking in itself, especially if it's unnecessary if you don't have the gene yourself. Will you live under the shadow of the potential diagnosis anyway if you don't know, is that better than knowing you don't have it for sure? Wishing you all the best for whatever choice you decide

My nephew and his wife did it in the US, there's a strong family BRCA2 genetic mutation. They were successful pretty quickly and have a beautiful 2 year old.