From as 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), or what it meant to be BRCA 1 positive.
Why I decided to get tested for BRCA 1 gene mutation
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.
Increased risk from having a BRCA 1 gene mutation
…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 scenario double mastectomy 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 which would then also put her at risk. That’s when the tears started pouring.
Preparing myself mentally for the results
The letter from The Royal Marsden lay 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.
How I felt after receiving the results
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 privileged 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?
Turning the result into a positive
And then I realised. This thing has been in me all along. And this is my chance to rewrite the script. Get tested and live life to the fullest because who knows what might happen when. Stay fit and healthy. And to not let other people’s mess stress me out. All lifestyle factors can play into the hands of the risk that lies 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 around my neck, or I use it as a force for good, and remember that I am one of the privileged 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.
Moving on from denial
After spending a couple of months in denial, I went into a total research frenzy. I became obsessed with finding out the answer to everything about my new mind-bending prognosis to make sense of this crazy world of living with BRCA1. I had so many questions and thoughts on repeat in my brain it was utterly exhausting and overwhelming. Every spare minute I had I was lurking around in BRCA Facebook support groups and BRCA threads in cancer charity forums, feverishly devouring other women’s stories of their BRCA journey and their version of living with BRCA1 – the good, the bad and the ugly.
With every story, I anxiously weighed up my options, which I began to realise were not as many as I had hoped for a woman in her 40s in this day and age.
As I write this, I already have a 1 in 100 chance of developing breast cancer anytime now and that gives me the cold sweats just thinking about it. I know I need to trust myself, have courage, and blow this baby wide open.
Living with BRCA1: No easy magic bullet
After countless conversations, I began to realise there is no magic bullet here other than to have preventative surgery. At my appointment with the Genetics team at The Royal Marsden to which I turned up still clutching at the hope that I wouldn’t have to have my ovaries and breasts removed dissolved quickly. The brutal reality of what I was dealing with smacked me right in the face.
Any noninvasive treatment using PARP inhibitor drugs in a preventative manner that might suppress the faulty gene expression instead of ops was at the very least five years away. At the moment they are only used for actual cancer treatment and are at the time of writing not even in the early trial phase for preventative treatment. Even if I got onto a trial, there is no guarantee that I would then be given a placebo. And of course then I would also have to sit and twiddle my thumbs for a number of years, by which time I could have already developed cancer. And that is not a chance I’m willing to take.
What are my options?
Ultimately I began to realise my options were:
- Go through the excruciating pain of taking a wait-and-see approach of being monitored for breast cancer. Have regular MRIs, mammograms and freaking out every time I thought I found a lump in one of my breasts. Note, there is no effective screening process for ovarian cancer. So that basically means just waiting to see if and when the cancer shows up. Then having to deal with it and the potentially horrific treatment that fighting cancer involves. Thanks but no thanks.
- Taking place in The Protector Study. To have just my fallopian tubes removed because it’s estimated that around 70% of ovarian cancers start there. I am seriously tempted by this but at already 41 years of age and most ovarian cancer risk presenting itself from age 45, it is a risk.
- Having my ovaries removed, my breasts removed and the reconstructed. The full shebang.
- Put my faith in an alternative approach. Mainly through lifestyle, diet and herbs and supplements known to have cancer-suppressing properties. Ultimately I was just not willing to put my eggs in that basket. As big an advocate I usually am of the natural approach – when essentially my life was on the line.
Opting for the PROTECTOR study
I’ve spent hours spent looking at pictures of reconstructed boobs convincing myself that I will be ok with my future double mastectomy and reconstruction, that the scars will not be too bad and if they are, that I will try to turn them into something positive by having an artistic tattoo inked over them.
To say I am very scared of the hormonal mess that may ensue from having my ovaries removed – even with HRT which doesn’t mean it will all be rosy – is an understatement. I’ve been there before when I had a total thyroidectomy due to precancerous cells in my thyroid and it was not pretty let me tell you. So I’ve booked an appointment with hormone specialists at The Marion Gluck Clinic to start that conversation and get the best advice I can get.
I’ve also been really lucky to find a couple of amazing BRCA positive role models in my personal network who have been there done and are helping me to deal with all the things I am so scared of. Questions like will I still be the same person? Will I still like myself? Will it affect my confidence? Wow about my libido and sex?
I have spent hours asking questions in Facebook support groups, exchanging experiences and learning from those who are further down their journey than me.
In the final analysis, it is a big thing having two things massively associated with your womanhood removed, and it is that at the moment that I’m finding the hardest to come to terms with. But then when you stack that up against cancer….well, how could I be so vain? But there it is.
Living with BRCA1: So what’s my game plan?
Right now, I am having my breasts monitored annually via a MRI and mammogram. I am not ready to think about removal and reconstruction yet. I have signed up to the PROTECTOR study and currently waiting for my first operation date which will be to remove my fallopian tubes.
In the meantime, my plan is to constantly look for joy in life and live life to the max. Meanwhile, my own father was diagnosed with stage 4 cancer, and is currently undergoing treatment which we hope will work. I am therefore constantly reminded just how fragile life is. I’ve got to be fierce, a previvor, and do it for all those women who never got a chance to do so. I’m doing it for me, my daughter, my family, my dad who has shown such immense strength and is a huge inspiration, and for every woman who never made it this far.
At the time of writing, I am yet undecided about what I will do after my fallopian tube surgery…..one step at a time girl!
