Being BRCA-positive and Navigating IVF

“We had been married for just over a year when my parents told us that my father was BRCA2 positive. I knew immediately that I would want to get tested - knowledge was power, and I wanted to be able to do everything possible to be proactive about my own health. I got tested and was positive for the gene as well. I met with a genetic counselor to go over the implications and immediately started my screenings - yearly mammograms and breast MRIs. I was also told to get my ovaries surgically removed by age 40. As far as I can remember, no one really brought up the option of doing IVF to screen for the gene. And it didn’t cross my mind yet either, as we were both in graduate school and not ready to start a family yet.

About two years later, I saw a post online about someone who had done IVF to screen for her BRCA mutation, and it sent me down a bit of a panicked rabbit hole. I hadn’t realized that was an option! I spoke to my genetic counselor, who said some people do it, but it’s a personal decision. She emphasized that I wouldn’t be a bad person or a bad parent if I decided not to do IVF, which I appreciated.

It was a very hard decision.

For people with genetic mutations that could cause conditions incompatible with life or other debilitating issues, the choice to do IVF seemed to be much more straightforward, though not without complications (emotional, financial, etc.)

BRCA felt a little different. As someone who is BRCA2 positive, I am not guaranteed to get cancer - I have an extremely high lifetime risk and need to do constant surveillance, prophylactic surgeries, or both. But with IVF, I would not be screening out a disease - I’d be screening out a higher chance of a disease that would probably only affect my children later in life.

Emotionally, it felt like a somewhat theoretical decision for me. I know some women who have watched their grandmothers, mother, and aunts battle breast or ovarian cancer for years. In my family, my generation is the first to have any women with the gene. We have no family history of breast or ovarian cancer. We have a history of prostate cancer among men, which is related. But not breast or ovarian.

And finally, the thought of having BRCA2-positive embryos and actively choosing not to use them felt strange - I am BRCA2 positive, and to think that I would not have “made the cut” if my parents had done IVF was really strange. Was I saying that my life, as it was, with the extra screenings and cancer risk, was not worth living? It felt like a complex statement to make.

My husband was also slightly uncomfortable with the process of IVF - its medicalized nature, the thought of having to decide what to do with leftover embryos, etc.

So it was a hard decision.

And it took us a lot of time to actually come to a conclusion.

But in the end, we decided that if it were possible to help our children avoid the cancer-related stress that I have to go through, it would be worth it. It’s a heavy burden to carry, especially for women: constant fear that the next scan will come back with something positive, the deadline of getting your ovaries removed by age 40, etc. We decided that it was worth it for us to try the IVF route.

We told our immediate families, and they were very supportive. We didn’t actually know anyone who had done IVF (or at least, we didn’t know about it), so we didn’t have such a clear idea of what it would entail. We were optimistic since we were going in with no known fertility issues, and everything looked good on our initial tests.

We did our first retrieval and got a decent number of eggs. But the process of getting from eggs retrieved to viable embryos is a brutal game of numbers, and the fact that we were expecting around 50% of the embryos to have my mutation only made that numbers game harder. Ultimately, we ended up with four chromosomally normal, BRCA-negative embryos.

We did our first embryo transfer in January 2020 and were so excited to get a positive pregnancy test!

We went in for an early ultrasound and heard a heartbeat, which was reassuring, though the doctor noted something weird on the ultrasound (and had a terrible bedside manner), so we left a bit anxious. At our next appointment, around eight weeks, there was no longer a heartbeat, and they told us the embryo had actually split into twins. They had both stopped growing a week earlier.

We were totally devastated.

I had a D&C; the following week, the world shut down because of covid. It was an incredibly isolating, difficult, and uncertain time for us.

We wanted to go straight to our next transfer, but we needed my HCG levels to go back to zero, and my body took its time doing that.

We decided to do a medicated transfer instead of a modified natural transfer as we had done with the first transfer to minimize the number of appointments and, therefore, our covid exposure.

And I had a horrible reaction to the PIO (progesterone in oil) injections, though - I was so anxious about them, I had nerve pain that lasted for months afterward, etc.

But, transfer #2 did not work.

Our doctor said he didn’t know why it didn’t work - sometimes you’re just unlucky.

Given the medical setting of all of this, it is hard to remember just how much we still don’t know about this entire process, and even transfers of genetically tested embryos in people with no known issues are not a guarantee.

We tried again, going back to a modified natural transfer.

But transfer #3 was also unsuccessful.

We ran some tests and did a hysteroscopy to test for any retained tissue from the miscarriage.

Nothing.

No reason to explain the miscarriage or the two failed transfers.

And we were now down to our last chromosomally normal, BRCA-negative embryo.

We felt desperate.

The doctor added some off-label medications in the hopes they would help - we were willing to try anything, even when one of them gave me horrible side effects.

And unbelievably, transfer #4 was successful! We were so used to getting bad news that it was hard to accept.

Emotionally, it was a very hard pregnancy, as pregnancy after loss often is. This was compounded by the fact that my grandfather died a couple of days before our original due date from our miscarriage, my cousin had a baby on our original due date, and my best friend had a baby a couple of days after that. I had a lot of anxiety throughout the pregnancy, especially at the beginning.

Before our 4th transfer, my husband and I started talking about what we would do if it didn’t work. Would we do another retrieval and start over? Did we have that in us? Was this worth the toll it was taking on me, both physically and emotionally? We had made an initial decision, but could we give ourselves permission to reevaluate, given what we had learned and been through since then? We are “supposed” to be willing to sacrifice for our children, but at what point is it just too much?

Ultimately, we avoided that decision. We were lucky, and we are blessed to have our son.

After he was born, we did another two retrievals. Given it took us 4 transfers to have him, we wanted to make sure we had some more embryos banked.

But medically, I was so lucky that my pregnancy was very unremarkable.

And thank god, our son was born healthy at 38 weeks!

The birth itself was also a bit rough (induction and ultimately an urgent c-section), but again thankfully, my recovery was so smooth.

Before our 4th transfer, my husband and I started discussing what we would do if it didn’t work. Would we do another retrieval and start over? Did we have that in us? Was this worth the toll it was taking on me, both physically and emotionally? We had made an initial decision, but could we give ourselves permission to reevaluate, given what we had learned and been through since then?

We are “supposed” to be willing to sacrifice for our children, but at what point is it just too much?

Ultimately, we avoided that decision. We were lucky, and we are blessed to have our son.

After he was born, we did another two retrievals. Given that it took us 4 transfers to have him, we wanted to make sure we had some more embryos banked.

We just did our 5th transfer in December. We got a positive pregnancy test! And then, at our second ultrasound, they told us that it had (again??) split into twins. This was incredibly triggering - our immediate thought was that this too would be a miscarriage since that’s what my body knew what to do with twins. It was also going to be a high-risk pregnancy.

Thank God I am currently 14 weeks, and everything has been going well so far. We are slowly coming to terms with the fact that we may actually have twins.

But every step of the way, it feels like we are constantly being reminded that we are not in control.

We have made very conscious and deliberate family-planning choices, and still, God or the universe or chance or whatever you believe in is just constantly hitting us over the head with the message that we are not in control.

No matter how much we think we are.

I also wish I would have had more realistic expectations going into the process - that would have made it easier when things did not go as planned.

After my miscarriage, I found comfort in an online community, especially at IWSTHAB. But it always felt a little strange, since I didn’t really belong in the infertility community - I had “skipped” straight to IVF. But that in itself made it harder in some ways -

it meant we had higher expectations, and it was harder when things didn’t work out.

I feel grateful that my experiences have made me more empathetic and allowed me to support others who have gone through similar struggles. But also, 2020 was a really hard year for me.

Those things can both be true.

And I feel so grateful for my growing family and the fact that I had the option to make these decisions. But also, it was a very difficult journey.

Both of those things can also be true.”