5 Women On Finding Out They Had The Faulty BRCA1 Gene
Ever since Angelina Jolie was diagnosed with the faulty BRCA1 gene and decided to have a preventative double mastectomy to reduce her breast cancer risk, the BRCA genes have been in the spotlight.
The BRCA1 and BRCA2 genes produce tumour-suppressing proteins and are present in everyone, according to the National Cancer Institute (NCI).
When either BRCA gene is mutated or altered, it means your chance of cancer is much higher because proteins that can rapidly grow into tumours aren’t being kept in check.
Approximately 12% of women in the UK will develop breast cancer sometime during their lifetime, but those with a faulty BRCA gene are at far greater risk.
The most recent estimates from the NCI show that between 55% and 65% of women who inherit the BRCA1 mutation will go on to develop breast cancer by 70, while 45% of women who inherit a harmful BRCA2 mutation will.
To mark breast cancer awareness month, we spoke to five women about finding out they had the faulty BRCA1 gene.
Michaela Jones’s mum was diagnosed with breast cancer shortly after her 40th birthday. She underwent chemotherapy, then a double mastectomy and a hysterectomy, and is in remission today.
After her mum’s battle with cancer, the then 19-year-old chose to get tested for the BRCA1 gene mutation and the results came back as positive.
“While I was convinced I would be a carrier – as I had characteristics that are recognised with a BRCA1 gene carrier, such as starting my period at a very young age – I was still shocked to receive the diagnosis in black and white.”
Despite the shock diagnosis, the 23-year-old says she doesn’t regret going for the test: “I know of lots of people who chose not to be tested, I personally felt that I would rather know of my risk so that I could take necessary actions to reduce my risk should I carry the gene and also prevent the gene continuing through, should I try for children in the future.
“I felt very lucky that I had the opportunity to take control of something that my mum and lots of other women often don’t have. I went from being a stroppy teenager to a responsible adult virtually over night. I like to think that I am very positive and appreciate every minute of life because you never know what’s waiting for you around the corner.”
Jones is now waiting to undergo a preventative double mastectomy.
Doctor Emma Kirke-Reynolds, 39, first went to see a genetic counsellor at 37, after a referral from her GP who had looked at her family history of cancer and was concerned about her risk.
It was during this first meeting that the counsellor raised the subject of her ancestry: “He asked me if I was Jewish. I wasn’t, to my knowledge, and certainly the family were not practicing. But she told me my risk score was the highest she had ever had. When I later asked my dad about the family background it turns out I am from ashkenazi [Jewish] blood.”
Unbeknown to Emma, her heritage put her at very high risk of breast cancer – a particular genetic strain present in Jewish women is associated with the cancer. The NHS estimates that 1 in 40 Ashkenazi women carry the genes, compared to 1 in 400 non-Ashkenazi people. All Jewish women are encouraged to get BRCA gene mutation testing even if they have no direct family history of the disease.
The counsellor immediately referred Emma for a mammogram, despite not having the BRCA results back: “The counsellor didn’t want to risk the wait. Fortunately she didn’t as on my scan they detected multiple masses that needed to be removed. Fortunately the cancer was early stage and confined so I am grateful I went when I did. It may have been a different story if I had left it longer.”
Emma wants to tell other women who are diagnosed with the BRCA1 gene mutation before diagnosis (rather than at the same time like she was), that they have been given a gift.
“You have the knowledge to make a conscious choice. Whether you decide to monitor or have prophylactic life-saving surgery, you are in an advantageous position. Be mindful not to let it become you though.”
Back in November 2013, Aimi, 30, was late for work one morning and happened to catch the end of the Lorraine Kelly show.
“I am a strong believer in the phrase ‘everything happens for a reason’. As clichéd as that sounds, I really do, even the bad stuff. It was fate that I was late for work and found myself was watching the show. It was fate that Michelle Heaton was there discussing her decision to have been tested for the faulty cancer gene that seemed to run in her family.”
Aimi went for a BRCA1 gene mutation test and was told she was positive: “I went numb. I don’t remember much else. Tears ran down my face and all I wanted to do was run from that cold, dark, miserable room.”
She then made the decision to undergo a preventative double mastectomy and reconstruction as a result of going for the test.
Aimi tells other women that seeing those statistics “scared the crap out of her” but that doesn’t mean you should not get tested.
“Since day one none of this has seemed real, it wasn’t happening to me it was happening to someone else. Someone else sat through endless appointments of intense genetic counselling; someone else had prosthetic nipple casts made.
“Someone else disfigured her body; someone else at the age of 32 has to have her eggs frozen, go through early menopause and have her ovaries removed and risk never having children. However this ‘someone else’ is lucky to have had the opportunity to do these things, in order to save her life.”
Tamsin Sargeant tested positive for the faulty gene in March 2011, after seeing a genetic consultant as part of a research program – she did not qualify for free genetic testing on the NHS.
Sargeant describes that day as finding out she had a ‘deadly inheritance’: “I am not expecting this news. I start crying. I’m thinking about my daughter and my sisters. I feel like I’m to blame. How will I tell my family?”
She then decided to have a preventative bilateral mastectomy, but it was not an easy decision: “It was painfully apparent to everyone around me that the odds of developing another breast cancer meant that risk-reducing surgery was a no-brainer. But I swung between the terror of getting cancer again, and the dread of a twelve hour operation. I was like a rabbit trapped in head-lights and became completely paralysed by fear. I realised I had to make fear my friend. I had to ignore the mess and the disarray. I had to stop running and look fear in the eye.”
“How you choose to manage your risk is, I think, one of the biggest decisions you’ll ever make. How did you approach other significant decisions in your life – where you live, your work? Do your research. Listen to your instincts.”
Sargeant advises other women, who find themselves in a similar position, that they shouldn’t feel like there is a ‘correct’ way to process the news: “Finding out you have an inherited mutation can feel like a life-changing moment, interrupting and consuming your life. You might be surprised by your feelings. There’s no right or wrong way to feel.”
Claira lost her mum to breast cancer when she was only nine years old, and then her older sister Emily died aged 31, after six and a half years of treatment for breast cancer.
Claira was advised to take a BRCA gene mutation test by her sister’s mastectomy surgeon.
“The day Emily met with her mastectomy surgeon he suggested she take the test. If it was positive he suggested I then take the test. It took months but her test came back positive. After more months my test came back positive too. I was in total shock as I had convinced myself it wouldn’t happen to me.”
Despite the shock, Claira says the diagnosis didn’t change her life: “I knew a double mastectomy was an option, I stored it in my memory and got on with life. I felt not sense of urgency but I always knew when I felt ready I would do it.”
“Seven years after the test results I was laying in the bath. I decided to check my breast (something I never did) I felt a lump but then I felt the same lump on the other side and then I felt more and more on the other side. I felt fear, panic and unease for the first time. The lumps where just my glands but the next day I called my doctor and started the ball rolling to have my double mastectomy and reconstruction. I never wanted to live in fear.”
“Until this point my knowing I had the gene had never induced fear this was the first and pretty much the last time it ever would. Seven months after the bath I had the operation. It changed my perspective on life. It changed everything for me for the better.”
Claira wants to tell other women that life carries on afterwards: “I wanted women to feel okay to talk about their situation. I wanted to fill women with confidence that this can change your life for the better or it can just not change it at all.
“Boobs after all are just sacks of fat. Now I have perky ones that very rarely need a bra. Yes we maybe attached to our breasts, I know I was to mine. I went through a whole process of wondering if anyone would ever find me sexy or love me again. I wondered how I would feel about my own body.”