I find myself in quite the unique position where I’m both a specialist breast care nurse in the NHS and someone who has the BRCA2 gene mutation myself. Gene mutations linked to breast and ovarian cancers are something I’ve been aware of and have worked with for many years, so I’m no stranger to what they mean and the implications they have for the individuals that are found to have them.
My personal BRCA2 diagnosis story began around a year ago. Unlike most people diagnosed with a BRCA gene mutation I have absolutely no family history of breast or ovarian cancer on either side of my family as far as I’m aware.
So how and why did I get tested on the NHS?
My mum was born in the Czech Republic to her Czech father and English mother. About a year ago now I learned that I could apply for my Czech citizenship through my mum’s ancestry, and after Brexit, I thought it would be a great idea to have dual citizenship and an EU passport (thanks mum!). In the process of applying for this I spent a long time with my mum discussing and researching my Czech family history. I have always been aware that my grandad (my mum’s dad) was Jewish, and through my work I knew that people with Ashkenazi Jewish heritage have around a 1 in 40 chance of having a BRCA mutation, compared to about 1 in 400 in the average UK population. In the back of my mind I thought, “what if I have a BRCA gene mutation?” but I quickly dismissed this because, like I said, there’s no family history and I wouldn’t be eligible for any BRCA testing on the NHS anyway.
One day, however, while I was researching my Jewish ancestry for my citizenship application, something popped up about Jewish BRCA testing on jewishbrca.org. The nurse in me immediately thought, “Oh, this may be interesting and relevant to my work” so I clicked on the link. This led me to the website for the NHS Jewish BRCA Testing Programme, and I was really surprised to learn that BRCA testing on the NHS was being offered to anyone over the age of 18 in the UK with at least one Jewish grandparent, irrespective of any family history of cancer. I don’t know why but something in me just knew I should do it. I applied online through the website and received my saliva testing kit and consent form through the post around 8 weeks later. I’d almost forgotten about it when it arrived and procrastinated for several weeks before finally sitting down to do it. It was easy and painless and just involved spitting in a plastic tube and filling out a few forms. I sent it all off fully expecting the results to come back negative, again because – “no family history”.
Fast forward to 21st August 2023, 10 weeks after sending my test kit off, and I came home from work to a letter from the Royal Marsden Hospital. “Ahh it’s my negative BRCA results” I thought. I opened the letter…
“Result: Gene fault (mutation) found in BRCA2”
I must have read this at least five times before I realised what it said. I was shocked. Completely floored, if I’m honest. As ridiculous as it sounds, even though I knew that technically I was at an increased risk, I just didn’t think the test was going to show a BRCA gene mutation. Even I, as a breast care nurse, was under the impression that there definitely would have been at least one case of breast or ovarian cancer in the family for me to have a BRCA mutation.
A few weeks after receiving this letter, I had a telephone consultation with a lovely genetic counsellor from the Jewish BRCA Testing Programme at the Marsden, and they referred me to my local clinical genetics service. I found out that my mum had two paternal uncles and two paternal cousins that all died of pancreatic cancer. Both BRCA1 and BRCA2 mutations can increase the risk of pancreatic cancer, more so in BRCA2, so maybe my family history is pancreatic cancer and not the typical breast or ovarian. Although there is currently no national screening for pancreatic cancer in the UK, I will be more aware of the symptoms and will be very quick to act if I develop any.
My mum and my older sister also got tested through the Jewish BRCA Testing Programme following my result and, sadly, both tested positive for the BRCA2 gene mutation. My wider family have been informed and they can opt to have testing too if they wish.
I know that, although it doesn’t seem like it some days, the knowledge of my BRCA2 gene mutation is a gift and ultimately it could save my life and my family members’ lives in the future. I’m glad I did the test and I’m so grateful to the NHS for the Jewish BRCA Testing Programme. Without it I never would have known, and I never would have had the opportunity to try and prevent myself developing breast or ovarian cancer in the future. I hope that by sharing my story it may encourage other people in the Jewish community or with Jewish ancestry, even with no history of cancer in the family, to get tested as it could save so many more lives.
I am only at the start of my BRCA journey, and it has brought up so many emotions so far – anger, guilt, grief but more importantly, gratitude. My job is both a blessing and a curse in how I am coping with this diagnosis right now. It can all get a bit too close to home sometimes as I will be having a preventative double mastectomy with reconstruction in the near future. However, I’m so incredibly lucky to be armed with the knowledge of my profession and the best team of specialist breast care nurses and breast surgeons any patient could ever wish for.
In the future, I hope that I can use my personal experience to help other people affected by BRCA and other gene mutations. If there’s one thing I’ve really noticed so far, it’s the lack of support in the hospital and the local area for people with gene mutations and that’s what made me go in search of information and support online. Thankfully my search led me to find BRCA+ Chat on Instagram and then to their website. The charity is such an invaluable resource and source of support for people like me and hopefully, one day, I may be able to join them in helping more people, especially in my local area, access the support and information they need.
A huge thank you to our wonderful BRCA Buddy for sharing her unique experience navigating her BRCA2 diagnosis. Follow her on Instagram @thebrcabreastnurse to see more of her life as a nurse and patient.