The genetics

Let me preface this post with an apology to anyone with the slightest grasp of biology. For all the mistakes I’m about to make, I’m sorry.

So, because thirty-five is quite young to develop breast cancer and because my mum has also had breast cancer, my surgeon referred me to a genetics team. A few weeks ago, Rachel and I went to see a genetics nurse. She told us that the average woman has roughly a 12% chance of developing breast cancer in her lifetime (I was surprised by how high this figure was). She asked whether we knew anything about BRCA1 and BRCA2 – two genes everyone has which can mutate, pushing the (female) carrier into a much higher-risk category for breast cancer of 80% to 85%. There’s also a higher risk of ovarian cancer and, for male bearers, a higher than average risk of breast cancer and prostate cancer. Did we know anything about that? We said ‘Angelina Jolie?’

We spent an hour or so with this nurse, who was friendly and knowledgeable and kind. She drew us pictures to explain how genes are passed down from parent to child and we talked about Rachel’s and my coinciding pregnancies. It felt a bit like a GCSE science lesson, and a bit like having a chat with a couple of friends.

The upshot was that I was free to have a blood test to determine whether I had either of these gene mutations. If I tested positive, Rachel would have one too, if she chose to. The nurse thought that despite my age and family history, there was probably only a one in ten chance that I would test positive. If I did, I would have to decide whether to have further, preventative surgery; this could involve a double mastectomy and, if I wanted to cover all my bases, the removal of my ovaries, too. She assured me that this could wait until I was sure I’d finished having children. Rachel and I took one look at each other and said ‘We’re done.’

I had the blood test there and then. I’m not someone who would rather not know, particularly when I’m currently carrying a female baby who could also be at risk. The nurse who took my blood asked me to confirm my date of birth and then wished me happy birthday for the following day, and it was a reminder, once again, of how incredible all the medical staff who’d guided me through this process had been.

And then Rachel and I went for lunch, and I put it out of my mind, because the results wouldn’t be back for about five weeks.

This week, we went away for a few days to Center Parcs – Paul, Joseph and me, Rachel, her husband Scott, and their son Louie. Rachel has four weeks to go until her planned C-section; I have nine weeks left until the due date I’m very unlikely to reach. We’re both feeling huge and uncomfortable, having trouble sleeping and suffering various aches and pains. We were ready for a break.

On the morning of our first day, Rachel and I were in a playground with the boys when my phone rang. It was a colleague of the genetics nurse we’d seen. She had the results; did I want to hear them? I did. My mind went back to that appointment, probably the most relaxed and enjoyable one of this whole process. One in ten chance. And then I heard the woman on the end of the phone saying I’d tested positive for BRCA2.

It was a blow. I’d felt like I was making progress, with surgery out of the way and chemo on the horizon. This was a setback. It felt cruel. Over the next couple of days, I caught a bad cold and Paul and Joseph went down with a stomach bug. The heartburn I’ve been suffering for a few weeks got worse and worse. And so, although it was good to get away and we had some really fun moments, it also felt a bit like a disaster.

There will be other holidays, I keep reminding myself. There will be better times. There will be trips that don’t involve phone calls that pull hard at the fabric of my world.

Today, I slept for the whole journey home and still felt consumed with exhaustion for the rest of the day. For a short time this afternoon, I lay on my bed while Joseph drove a fire engine over my body. ‘Is it time to call Fireman Sam?’ he asked. He pulled my dress up, put his head underneath. ‘Can I eat the baby sister?’ he asked. And I laughed, and he laughed, and things felt a little closer to being all right.

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