After her mother's breast cancer diagnosis, Emma decided to learn more about her family history of cancer to find out whether she carried a BRCA gene fault.

Monday 26 June 2017      Guest blog
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Emma

In January 2014 my mother was diagnosed with breast cancer and this set my mind racing with so many thoughts. Once I’d had time to process the news, I booked an appointment with the GP and together we looked at the cancer through my maternal side. My GP took some convincing but agreed to refer me to the genetics team.

Over the months that followed my mum underwent a lumpectomy and chemotherapy. Initially the genetics team refused to carry out the test, as my mum hadn’t had a BRCA mutation test and had no intention of doing so. I tried to suppress the thoughts racing through my mind; was I at risk, were my daughters? Then out of the blue 19 months later, I received a letter informing me that they now believed I had an increased risk.

It would be over two years from the referral for me to get the results. On 1 March 2016, I sat in front of the genetics team and I knew the result before the doctor opened her mouth; I carried a mutation in the BRCA2 gene. This put my lifetime risk of developing breast cancer at 85% and ovarian cancer risk was placed at 20-30%.

85% for me was a no brainer!

I was asked to go away and think about what steps I wanted to take next. I didn’t need to go away and think, I knew I wanted the prophylactic (prevantative) bilateral mastectomy; so I asked to be referred there and then. I couldn’t have predicted the tidal wave of guilt I felt about my daughters; they had a 50/50 chance that they too had inherited the gene from me.

In the months that followed, I attended a breast MRI which came back all clear and I met with a clinical psychologist. Meeting with the clinical psychologist scared me the most because I knew she would be the one to clear me for surgery, but it wasn’t as frightening as I imagined. The main role of the clinical psychologist is to support the patient’s decision making, and we discussed the implications and reasons behind why I wanted to pursue the mastectomy.

Meeting the surgeon

Time seemed to go so slowly from March to September when I met with my breast surgeon, Mr Samra. He could not have put me more at ease – he answered my questions before I could ask them and I was confident that he understood what was important to me. Thankfully I met the strict requirements for my preferred surgery; bilateral mastectomy with immediate reconstruction.

Having had three children, gravity had taken its toll on my breasts so Mr Samra decided that a reduction was important for the best aesthetic outcome, the implants would be placed under the pectoral muscle. I just had to decide whether or not to keep my nipples. The direct to implant breast reconstruction would mean the quickest recovery.

The day of surgery

Surgery was scheduled for 18 November 2016 and the time started to fly. I hadn’t felt nervous until the morning of the surgery. In the operating room Mr Samra marked me up and asked for my decision regarding my nipples; I decided that removing them was the best as I was then eliminating as much risk as possible. Marked up in orange pen and half exposed on the operating table, I had a surge of panic wash over me as the mask covered my face.

The panic had disappeared as I started to wake in the recovery room, the feeling was replaced with this overwhelming sense of relief. I no longer had an 85% life time risk of developing breast cancer; my risk now sat at 5%.

I was worried mostly about my daughters and how they would handle everything. I decided to keep a diary from the start to give them something to look back at if they have the mutation too. They are aware of the mutation but I didn’t go into too much detail, it’s just meant that they could ask questions and not feel that they were being kept in the dark. They have been absolute angels throughout everything and I’m so proud of how they have handled it.

Compile a family tree

I would advise anyone who is worried about their family history of breast and ovarian cancer to draw up a family tree detailing who had cancer, what age they were and what type of cancer they had. I’d book an appointment with your GP and take your tree in with you.

Seven months post-op and I am in a great place. It has taken time but I’m getting used to my new breasts and I am trying to find the positives. I’ve connected with other ladies at different stages of their BRCA journeys and I’m doing what I can to support them on this rollercoaster ride.

More information

Find out more about gene faults and family history of breast cancer