I found out I had an 87% chance of breast cancer from a home-testing kit

I excitedly clicked ‘post’ on Facebook and told everyone about purchasing a DNA testing kit, with the immortal headline: ‘A whole new set of insights awaits!’

How right that was — just not in the way I expected.

I was hoping to find out how I could get my body back into shape by focusing on foods that were right for my genes and eliminating any that weren’t suited to me. It was exciting to think I would have a scientific and bespoke diet that I could follow to reach my goals. 

I’d struggled for years with stomach issues and had even had a really bad episode where I ended up in hospital with a hole in my bowel and was extremely unwell. I started to look at the way I was eating to try to prevent being in that situation ever again.  

But when I was scanning the adverts for every type of test available, one from CircleDNA caught my eye. Not only would it tell me about food intolerances, but loads of other data too like my ancestry and personality traits. I hesitated at the price but saw that they had a sale coming up soon and decided to wait until I could get it at a discounted (although still expensive) rate. 

The test arrived beautifully packaged with clear instructions. It was a really simple saliva based test that involved brushing a sample wand against the inside of your cheek, not dissimilar to a Covid test, then sealing it inside a sample bottle and returning it. 

The report finally landed in my inbox after a long three month wait. It came in the form of a PDF attachment and was available inside the CircleDNA app at the same time. 

There was one file containing all my cancer risks. I opened it to a warning screen and a link to book a session with a genetic counsellor – my first clue that I was about to receive big news.

I didn’t really think much of it, oblivious to what was unfolding.

Then, in red, it said: ‘A cancer-causing mutation was detected in: BRCA2’.

Again, no real reaction from me – after all, everyone is at risk of cancer to some degree or another. I had a slight recollection of hearing about BRCA gene mutations before but hadn’t paid enough attention to know anything about them particularly.

It listed all the cancer causing mutations: breast cancer, melanoma, ovarian cancer and pancreatic cancer. It mentioned that I should get in touch with my healthcare provider to find out more. I felt a slight ripple of nerves but the wording was no more concerning to me than when you read that you should consult a doctor before starting on a diet, for example.

I closed that part of the report and started to investigate the rest. Given the real mixed bag of what was true and what seemed remarkably far fetched (i.e. being a gifted dancer) I closed it down and carried on with my day. 

I went home that night and casually communicated my results to my family. BRCA2 is hereditary but my mum’s family hadn’t ever had breast or ovarian cancer. Then I remembered that my dad’s mum died young, wasn’t that of breast cancer?

I rang him… he said that yes, she died of breast cancer and so did her mum. He didn’t have any information further back than that.

Alarm bells started ringing. 

I immediately did the inevitable Google search and that’s when I finally realised the impact this was going to have. My children may also have the gene, the recommended route was life altering surgery… it started to feel like a big deal and although I wasn’t scared by it I did start to clock that it wasn’t something I could ignore or bury my head in the sand about.

I rang my doctor’s surgery and felt a bit embarrassed as I explained that I’d taken a home test and it said I needed to inform them of the results.

I needn’t have worried, the doctor immediately reassured me that I had done the right thing and asked me if I had had any symptoms or lumps I was concerned about.

I mentioned my historical bowel and stomach issues and they felt it was important to check these out again given the new information about the gene mutation. She let me know that she would immediately arranged a range of appointments: mammogram, MRI, internal ultrasound, CA125 blood test and a referral for the genetic counselling service. They also wanted to do another genetic test through the NHS to confirm the results. 

It took a couple of months for the ball to start rolling. I first had a letter from the genetics clinic who sent a lengthy questionnaire for me to fill out about my family history. I needed to list all my relatives and when they had died and whether they had ever had cancer of any kind. They wanted to know about all living relatives as of course they too could carry the gene and they would be able to contact them and invite them for testing.

I started to realise that the impact of this was not just going to affect me but would also disrupt family members who would now also have to think about it and decide whether they wanted to be tested. 

I then went for an internal ultrasound about four months after my call to the doctor. Luckily all was clear. I was put onto a regular screening programme to have an MRI and a mammogram every 12 months and went for my first one at the local hospital – again all was clear.

Everything seemed to move very slowly at first. Getting those initial appointments took months but we were still also dealing with Covid backlogs and some restrictions.

Then after that it all moved a lot faster. I’ve now met with consultants at the Royal Marsden, a breast nurse and next I will meet with a clinical psychologist to talk about the impact of the procedures. I will be having preventative surgery, including a double mastectomy.

I also have a telephone appointment to talk to the consultant about having an oophorectomy (removal of the ovaries and fallopian tubes).

This would put me into immediate menopause so I was also referred to the menopause clinic – I’ll speak to them nearer the time of the operations to prepare for menopause and talk about hormone replacement options. 

The overwhelming (but reassuring) part was that all these referrals happen automatically and surgery is the recommended route, rather than a requested one. I certainly didn’t request this pathway, it’s put in motion for you – but of course you can refuse at any point or opt for monitoring if you wish.

My breast consultant told me that I could swerve the surgery and keep a close eye on my health, but if I got cancer the treatment is of course not pleasant and would not guarantee I would live longer. Surgery would dramatically improve my chances of extending my life. 

I discovered from talking to the consultant and my doctor that my risk of breast cancer was as high as 87% (the average risk for the general population is around 12%) and my risk of ovarian cancer was as high as 44% (for the general population the risk is less than 1%).

These figures vary depending on the location of your gene mutation and your family history so it’s important to know your own personal risk before making decisions. Hearing these statistics made it much easier for me to come to a decision around what to do next. 

Risk-reducing surgery might seem dramatic as a solution but this analogy helped me to put it into context: ‘Would you get on a plane that had a 87% chance of crashing?’ That’s a hard no!

I’m a way along the road now. The surgeries are all in motion and it’s likely they will take place later this year.

I feel nervous about going into menopause and the way this might affect things like my sex life, my moods and my behaviour. I know that my body will be changing and perhaps I will find it hard to accept how it looks and feels.

Strangely, even though I have had my family I also feel something like grief at saying goodbye to the parts of my body that created, held, nurtured and nourished my children. 

Overall I’m extremely grateful for having the BRCA2 mutation. It’s highly motivational to know you are a ticking time bomb. Things that I used to worry about or be afraid of are no longer getting in my way and I’m hugely grateful I have the opportunity to do something about my cancer risk.

Sitting waiting for my appointment at the Royal Marsden I saw far too many people who probably never had a head’s up about their cancer and didn’t have the opportunity to reduce their risk or access to the scans and checks that I am entitled to as a carrier of BRCA2.

I actually felt quite guilty for a while that I was given this information, albeit by complete chance. 

I see it as a gift, a constant reminder to feel the fear and do it anyway and live life in the moment without waiting for the ‘right time’. The one area in which I feel desperately sad is when it comes to my two children. I know that they have a 50% chance of inheriting the gene.

I feel that I have an opportunity to give them an example of dealing with it without fear (but openly and with compassion for self).

Who knows, with all the advances we are making in this area it’s entirely possible they won’t need risk-reducing surgery and we can look back and marvel at the way everything changes, as everything does.

You can find out more about Nova here

Metro.co.uk joins forces with CoppaFeel!

This year Metro.co.uk are the proud sponsors of breast cancer charity CoppaFeel!’s music festival Festifeel, specially curated by their patron, Fearne Cotton.

Taking place on Sunday 18 September at London’s Omeara, the line up includes headliners McFly, comedian Rosie Jones and Radio 1 DJ Adele Roberts.

To find out more about CoppaFeel! click here, but in the meantime, here’s three simple steps from the charity to get you started on your chest-checking journey:

Look

• Look at your boobs, pecs or chest.
• Look at the area from your armpit, across and beneath your boobs, pecs or chest, and up to your collarbone.

Be aware of any changes in size, outline or shape and changes in skin such as puckering or dimpling. 

Feel

• Feel each of your boobs, pecs or chest.
• Feel the area from your armpit, across and beneath your boobs, pecs or chest, and up to your collarbone.

Be aware of any changes in skin such as puckering or dimpling, or any lumps, bumps or skin thickening which are different from the opposite side.  

Notice your nipples

• Look at each of your nipples.

Be aware of any nipple discharge that’s not milky, any bleeding from the nipple, any rash or crusting on or around your nipple area that doesn’t heal easily and any change in the position of your nipple.  

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