Planning to have children as a BRCA 1 genetic mutation carrier
I carry a BRCA1 genetic mutation and my mother passed away when she was quite young as have most of the women in my family that have this genetic mutation. So I made a decision many years ago that I would undergo pre-implantation genetic testing before I had a family, or as part of my process for having a family. That meant undertaking IVF and testing the embryos before they were implanted back into me and selecting an embryo that didn’t have my BRCA1 genetic mutation.
As part of my being a carrier for this, I also needed to have my ovaries removed to reduce my own risk of ovarian cancer and doctors wanted to do that by the age of 35. I hadn’t had a family, but by the age of 38 I decided I would undergo fertility preservation, have my eggs harvested and frozen which I did. Then I decided to have my fallopian tubes removed to reduce my risk of ovarian cancer, but it would also end my ability to fall pregnant naturally, so lock me into IVF as well.
The plan was to leave those eggs, find a partner and come back and have a family, but the doctors were advising me to get my ovaries removed by the age of 40. The more research I did the more I saw that it can take a lot of eggs and a lot of embryos to actually have a successful pregnancy. I knew that a lot of those eggs could be carriers for my BRCA gene so I didn’t know how many I needed would be enough to get enough embryos or any embryos. Would all the embryos die, would they be carriers, blah, blah, blah.
Deciding to go through IVF as a single mother by choice
So then I made the decision that I would progress to have those eggs fertilised with a view to having a child on my own, to be a solo mum by choice. So I went back and I had a third round and I decided to do a third round with fresh, have more eggs harvested and also to thaw some of those that had been frozen.
That first round I ended up with seven embryos, but only one embryo came from an egg that had been frozen. My frozen eggs performed very poorly, compared to the fresh eggs, so I guess that’s something to consider when you’re doing fertility preservation. Of those seven embryos all were carriers for my BRCA1 genetic mutation. I expected about half would be, which is what the odds were, but all were and that was pretty devastating.
The challenges of PGT and looking for the ‘golden egg’
So I then went back for more rounds and I got less embryos fresh and [as] part of the testing for my genetic BRCA1 mutation it would also show the embryologist other chromosome abnormalities that they thought were happening in the embryo. So even though I was getting embryos that were without my BRCA1 genetic mutation, the embryologists were saying, “Well there’s other chromosomes that aren’t right and you may be born with a baby with a disability, or it won’t work, it won’t take in the pregnancy,” and the fertility doctors refused to transfer them.
I went away and did a lot of research around this, having a medical comms background and I was really quite uncomfortable with the science that apparently showed that these embryos were problematic. Since then there’s been a lot of evidence that has come forward around mosaic embryos - embryos with some abnormal cells, with some healthy cells - actually having a very, very high success rate. In the past these embryos were destroyed which I just find devastating, especially for women who maybe never achieved having a baby.
I was really quite frustrated with this because it really meant from the beginning my chance of success was extremely low, probably less than 5% but that wasn’t explained to me at the outset. In the process, so as a 38, 39, 40 year old woman I was actually getting a lot of embryos to day 5. So my egg quality seemed okay but I decided I would swap sperm donors because I thought well I can’t improve my egg quality any more than it is. So how can I try and boost my chances of getting more embryos since I seem to need so many to try and get this one golden egg.
Changing sperm donors, becoming pregnant and having a baby
I swapped sperm donors, but the next round of IVF they made the mistake of fertilising my eggs with the wrong sperm. They only picked this up because I had a bespoke test for this BRCA1 gene mutation, otherwise they wouldn’t have known that they’d made the mistake. So then I had to have another round and in the end the new sperm donor did really work and I got a lot more embryos. I was back up around eight embryos for the round.
This time we got one that was free of my gene and also considered chromosomally normal. We got a couple more that were free of my gene and considered mosaic and in my mind I considered them normal as well, based on all of the evidence that I’ve read around mosaic embryos. So I transferred this one normal that was also free of my gene and yes and it worked. So I’ve got a beautiful little boy and he is just delightful.
Thoughts about trying for a second child
I still have some embryos there that I am very tempted to go back for number two and even after menopause I can still conceive because I’ve retained my uterus, with the help of, obviously, fully medicated cycles.
You can either have a medicated or a natural cycle with your transfer. So with having gone through menopause, no longer having my ovaries, I would need to have to have a fully medicated cycle. Then if the pregnancy takes, the placenta eventually gets to the point where it can produce its own hormones to be self-sustaining and I don’t need to continue on with any progesterone or anything like that.
It’s definitely a consideration, I like the idea of having a second child, my first one’s been an absolute delight. Not a moment of regret to being a solo mum by choice. But I appreciate that two children can be a lot more of a handful than one, so I’m not sure yet. [laughs]
