I tested positive for the BRCA1 gene mutation and here’s how I felt

From a young an age as I can remember, I was always aware that my family was riddled with cancer. Practically every other person in my dad’s family had been marred by it, and both my paternal grandparents had died of it. But until I hit my 4th decade, all of this seemed like something fuzzy and distant that didn’t really apply to me. I didn’t even know what the hell the BRCA1 gene (otherwise known as a tumour suppressor gene), so why should I care.

Oh my dear father

Then last year, due to the fact that my dad had to have a couple of melanomas removed, pieces were starting to be put together. Despite the BRCA1 gene not being linked to melanoma, the medics started paying attention to our family history of cancer, and so did I.

My father was sent for genetic testing. For some reason I still felt a bit detached from what was going on. Even as he told me that he had tested positive for the BRCA1 gene mutation, I still felt pretty nonchalent about the whole thing. After all, about 1% or 1 in 100 men who carry BRCA1 develop breast cancer. Some studies suggest there may be a slight increase in the risk of prostate cancer, but this is not conclusive.

But then the penny dropped

…as I realised that I would have a 50% chance of having the BRCA1 gene mutation, and so at a flip of a coin, my breast and ovarian cancer skyrocketed. Women with the faulty BRCA1 gene, for example, have a 65 to 79% lifetime risk of breast cancer and a 36 to 63% risk of ovarian cancer before the age of 80.

In the back of my mind, I guess I already knew I would have the mutation. I had my thyroid removed due to the discovery of pre-cancerous cells around ten years ago (there is evidence to show a link between thyroid cancer and the gene mutation). But still I remained calm, until I had my pre-test consultation where the harsh reality of a worst case scenarios double mascetomy and having my ovaries ripped out came and smacked my full throttle in the face. But what really got me? That if I did test positive, my daughter would then also have a 50% chance of having the mutation that would then also put her at risk. That’s when the tears started pouring.

Fast forward on a couple of weeks

I saw the letter from The Royal Marsden on my door matt. I wasn’t ready for the results yet. I left it on the stairs for another week. My sister got in touch to tell me she was negative, and right then I knew – I would be that other flip of the coin, the loser in this game of genetic russian roulette.

I prepared myself mentally. I opened the letter, and there it was. As I had suspected all along, I was positive.

I slid into a dark mood

For a few days, I needed to wallow. I didn’t really want to talk to anybody about it. I just needed to process everything. Although I knew I was priviliged to have this information because I would now be on watch and routinely screened, I reeled from the injustice of it all. Hadn’t I had enough shit with my existing health conditions? The total thyroidectomy and the hormonal calamity it unleashed on my body for years after? The metabolic carnage I experienced as my system reeled from a rare condition usually found in diabetics (of which I am not) called reactive hypoglycemia? And now this shadow hanging over me.

And then there was my daughter. Already the letter was urging me to have her tested, at eight years old. I just couldn’t fathom telling her, of passing on this burden to her, and why should I at some a young and beautifully innocent age?

Then a chance to rewrite the script

And then I realised. This thing has been in me all along. And this is my chance to rewrite the script. To get tested, to live life to the fullest because who knows what might happen when. To break out of this dumbed down and restricted Covid sleepwalking state we have all been stuck in for far too long. To cut out meat and dairy from my diet as I had increasingly been trying to do. To stay fit and healthy. And to not let other people’s shit stress me out. All lifestyle factors which can play into the hands of the risk lying within.

I can’t change things the results, but I can change what I do with them and how I approach it all. I either let this weigh me down like an Albatross round my neck, or I use it as a force for good, and remember that I am one of the privilged few to have this information. Because after all knowledge is power, power is wisdom, and I’m going to use that wisdom to change my life for the better.

Photo by Anna Shvets from Pexels, Brett Sayles from Pexels

12 thoughts on “I tested positive for the BRCA1 gene mutation and here’s how I felt

  • Cancer does suck, regardless of what kind it is. I hadn’t heard of BRCA1 until now. My brother and dad both had skin cancer, something I definitely keep in mind when I go out in the sun.

  • I’ve learned a lot about the BRCA mutation and the testing since the dr I work for has been offering it for many years. I’m not at a high risk so haven’t done it myself, but I have had my thyroid removed. I didn’t know there was a link with that.

  • I experienced cancer closely in 2019 because of my mom, in the end we always and only talk about Covid, but I believe we need to focus more on everything that affects and ruins health in general … cancer in the first place. Much Light for you!

  • I’m so sorry to hear about your diagnosis. This must be a very hard phase for you but I do admire your courage and positivity. Like what my mom always remind me, everything happens for a reason. I agree with you, while you cannot change the result, you can, however, change your approach and deal with all of this positively.

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