Looking ahead - I'll need PGD, won't I?

[Paperlantern123]

I've been with my partner for a year and a half, and although of course I don't know what the future holds, this relationship feels like the real deal and he's the person I see myself marrying, having children with, etc.

Right at the beginning of our relationship, he told me that he is a carrier for a serious genetic condition. Very sadly, his parents had to TFMR a pregnancy before he was born because that baby was affected. With any pregnancy, there is 25% chance of the baby being affected (and not surviving long after birth), 50% chance not affected but a carrier, and 25% totally healthy. I didn't give it much thought at the time, partly because we'd not been together for very long and so I wasn't thinking about children at all, partly because he didn't really have much information or know the details of the condition, and partly because I just assumed there was some process that would 'solve' this problem - basically PGD (although I didn't know it was called that or what it would entail.)

Recently I have thought more about the future, and done some research into what our options would be looking ahead, learning about PGD and IVF (read some very helpful threads on here.) I feel like I've been so naive. It's starting to sink in what a big deal this is.

I'm certainly not yet at the point in my life where I'd like children - I'm 26, and always thought of having kids around my mid (or really mid to late) 30s. But now I realise how difficult and time consuming trying to conceive will be, which I just hadn't appreciated before...

I don't really know why I'm posting here, I suppose I've just been very sad today realising what a difficult path lies ahead if (when?) we decide to start a family. I've been thinking about how hard and emotionally draining IVF will be, the cost, the stress, the fact that I won't have the experience of TTC in a normal, non-medicalised way. It feels like a lot to take in and just so... sad. At the same time, I feel silly for thinking so much about something that may still be around 10 years away.

Any thoughts, particularly from those who have experience of PGD, would be much appreciated.

Im pretty sure that the NHS offers PGD where one of you has a proven genetic condition? If neither of you has children at the moment you'll be eligible for NHS IVF and then they should fund the PGD as well

What I would say is start sooner rather than later - I know people undergoing PGD due to recurrent miscarriage and have had to have several rounds of IVF to get just one embryo to transplant x

Hello - it's definitely a strange place to find yourself in but I think it's a good thing that you're doing research now and thinking about these things.

Sounds to me like your partner possibly has a chromosomal translocation? I also have one and am having IVF+PGD this summer.

The first step, once you and your partner are ready to talk about it more, will be to see a Genetic Counsellor who will talk you through all your options, the implications etc. in a non-judgemental and open way. My GC was amazing.
The options she put to me were:

• Try naturally and if you conceive, do nothing and accept the risks of miscarriage or having an affected child.
• Try naturally and if you conceive opt for testing to see if the baby has the condition (amnio, CVS or possibly non-invasive testing where they take blood from you, but this isn't currently available for all conditions or on the NHS). If baby has the condition you and your partner would then have decisions to make about continuing the pregnancy, what kind of care you would want after birth, potentially TFMR.
• IVF + PGD
• Donor sperm (or eggs in our case because it's me with the translocation)
• Adoption

I found I really struggled about a year or so before we wanted to start trying to conceive because it's just so overwhelming and there is so much to think about, even though you're not actively in that space yet, so understand how you're feeling. I felt better once I was better informed, so it might be worth the two of you trying to speak to a genetic counsellor about this and assessing your options for the future? Then even if you decide you're not ready to try for another 5 years or whatever, you'll know exactly where you stand and maybe feel a little calmer? Your partner would need to ask his GP for a referral to your local genetics service to discuss the implications of his carrier status on him having kids in the future.

Also, no matter where you live in the UK you are eligible for 3 rounds of IVF+PGD on the NHS as long as neither of you have a living child without the condition and you meet other criteria like not smoking, living together for at least a year before commencing treatment, BMI etc. So a small peace of mind for you may be that the costs are covered.

We did TTC naturally for two years because I wanted that experience and didn't want to go down a medical route unnecessarily, but I found the longer it went on the worse and worse my mental health became and the more I knew I'd be absolutely devastated if we finally conceived at long last only to then TFMR or lose the baby. With hindsight I think I might have gone for PGD straight away, but I can't be sure. It's deeply personal and will be something you and your partner will need to discuss and settle on yourselves.

The good news is time is on your side, but as a major factor in IVF success is egg quality, I would be tempted to make a start sooner than your mid to late thirties. You don't have to rush anything but maybe have a rough plan for your early thirties? Again, just my opinion and it's a very personal decision for you.

Best of luck whatever you decide - I completely empathise. xx

Thank you both for these replies, and an especially huge thank you @ivf2019 for taking the time to write such a thorough and detailed reply.

My partner isn't exactly sure of the details of the genetic issue - it's something his parents explained to him briefly and in layman's terms when he was a young teenager, and it's not really come up much since. But from the way he has described it to me, I've done some research myself and am pretty sure it's chromosomal translocation. It's a funny coincidence that that's why you're looking at PGD too - or is it a fairly common reason for needing it?

I suppose when I first started thinking about this, I automatically thought that PGD was the answer - I think I'm fairly risk averse generally, and the idea of a 25% chance of a baby being affected and then having to make a decision about termination just seems far too high. But it's clearly something I need to think about and talk about with DP more, and consider whether TTC naturally would actually be a possibility, or if it wouldn't be 'worth it' in terms of the emotional strain, the anxiety, etc.

Thanks so much for the information about funding, I wasn't sure if this varied from area to area and it's reassuring to know that (currently, at least) that isn't the case.

Generally, I think you're exactly right that it's good to start thinking about this early and making sure I have all the information at hand that I possibly can. Even if this is 5 or 10 years away for me, it's better to have it ticking away in the background as something to think about.

Thank you so much again for all of your help and kindness, I really do appreciate it. And very, very best of luck to you for this summer xx

You've had some great advice above.

Knowledge is power so I think it's the right moment for you both to arm yourself with as much information as you can about the genetic condition.

And just a thought but you said this might all be 5 or 10 years down the line... Would it be possible to do the IVF sooner than that and have your PGD screened frozen embryos ready? Even 1 round of IVF would be a useful indicator of how you respond, and it might feel reassuring to have some embryos waiting. Although if it didn't go as well as you'd hoped it could cause stress, but you'd have more time on your side to figure things out.

DH has a faulty gene that he could pass on but it wouldn't cause problems until later on life and we weren't offered PGD.
HNPCC gene which increases risk of bowel cancer and some other cancers.
He's already had cancer and we have sperm on ice from before his treatment, so while not in the same position I can sympathise.