“Knowing my BRCA status gives me the opportunity to take action”

Our Cancer Prevention Officer Jo Stanford joined the team to focus on how BRCA can be used as a cancer prevention strategy. Here she shares her own BRCA story and explains why it is a cause so close to her heart.

“I’d never heard of BRCA or even considered our family tree until after my mum, Barbara, was diagnosed with ovarian cancer in 2003.

She mentioned to her GP that her mum had died from breast cancer when she was only 41, and the GP suggested she speak to a genetic counsellor. It was at this point that my mum started to ask questions of her dad and build a more detailed picture of our family risk.

The Genetic Counsellor was lovely and so helpful. She visited us at home and went through our family tree with us. Her exact words were “we usually run these through a risk assessment programme but I don’t think there’s any need here”.

My mum decided she wanted to get tested for the BRCA mutations and the genetic counsellor explained it would take some time to get the results. She explained it was like looking for a single wrong number in a telephone book, when you’re not even sure there is an error.

If they found a mutation, testing anyone else in the family would be quicker as they would know where to look and what they were looking for.

My mum passed away in March 2006 at age 56, with my dad, my brothers and myself holding her. We got her genetic test results back a few months later, showing that she had a BRCA1 mutation.

I went through the genetic counselling process myself and decided to have my BRCA test in 2011 after having my first son. It came back positive and I was informed over the phone, as I had requested.

The genetic counsellor later queried how calm I was, but in all honesty I had prepared myself for the result and for some reason expected it to be positive, despite the chance being 50/50.

The BRCA1 mutation gave me up to 87% chance of getting breast cancer by the age of 70, and a 40-60% chance of getting ovarian cancer. My husband and I decided to complete our family sooner rather than later and had another little boy in 2013.

When he was one I started the process of speaking to breast surgeons about having a double mastectomy and reconstruction. I had the surgery in August 2014, and should have been done in one operation.

Unfortunately I had complications due to an infection, had to have an implant removed, had a few months off work, with 3 additional surgeries over the next 18 months.

I am now through that part and am taking a breather from surgeries for a few years. At 32, the guidelines suggest I’m too young to have my ovaries removed yet, and I appreciate this is for a good reason.

Surgical menopause at any age is tough, but at this age it would carry risks to my heart, bones and brain, and unfortunately as a BRCA1+ woman I have to balance those risks with the risks of waiting to take action.

It’s like being on a see-saw, trying to balance between two unpleasant options. There aren’t any reliable screening options available for women like me at the moment so all I can do is be aware of my body and any changes, speak up loudly if I have any worries, and keep in the loop about any advances over the next few years.

Knowing my BRCA status gives me the opportunity to take action, which I plan to do between 35 and 40, an opportunity that my mum didn’t have. I am happy to share my story if I can help raise awareness of BRCA mutations and the testing available, and help any other families to understand their options.

There are plenty of “if onlys” that play on my mind. My mum had a hysterectomy over 10 years before she died, for unrelated reasons. If we’d have looked into our family tree before that, would we have had the chance to prevent her illness? Maybe, maybe not.

One thing I am clear of is that I do have this chance, as do my children and theirs too. Growing grey, old and wrinkly is something many in my family have been denied so it’s something I see as a blessing.

I know from researching our family history that those of us who don’t end up with a BRCA-related cancer live to a ripe old age (my great grandma was still living alone in her own home at 99).

My mum’s last words to me were “I’m so lucky”… I plan to be one of the lucky ones and annoy my children for many, many years as an overly loving, attentive mother, grandmother and hopefully great grandmother.”

For more information about BRCA gene mutations or to help raise awareness please contact brca@ovarian.org.uk or visit our BRCA hub.