Kristy, 32, discovered that she had the BRCA1 gene following her mother’s breast cancer diagnosis in July 2020. Currently, she is the only member of her family to carry the gene mutation.
When my mother was diagnosed with breast cancer two years ago, she was told that she had the BRCA1 gene mutation. My two aunts, two sisters and I were all offered genetics testing. Results were in, I was the only one who reported a positive result to the same gene mutation.
I met with my genetic counsellor about my risk reduction options. Since my mother’s breast cancer diagnosis, I was already quite well-educated about treatments and what the diagnosis possibly meant for me. I researched extensively, using online platforms such as Pink Hope.
If you carry the BRCA1 gene there’s an increased risk compared to the general population of developing breast and ovarian cancers within your lifetime. I weighed up my various treatment pathways – what would reduce the risk for me? I immediately considered a prophylactic mastectomy and planned to have immediate reconstructive surgery. However, due to covid-19 my plans for surgery have been significantly delayed. I was disappointed however my medical team stressed that my case would be continually reviewed with annual screening, which made me more comfortable. I now continue to remain on the public waitlist for my prophylactic mastectomy & reconstructive surgery.
When I first learnt about the BRCA1 gene mutation I was initially consumed with making my own decisions about risk reduction. But there’s more to it: I’ve also had to consider and discuss family planning and understand many options for my future fertility plans. There’s no right or wrong choice, you can only do what feels right for you. While I’ve been waiting for reconstructive surgery, I’ve undergone a round of IVF. Exploring fertility preservation, embryo genetics testing and with hope to break the chain of the gene mutation for generations to come.
It was important that my medical team were the right ‘fit’ for me. I was already surrounded by so much anxiety about my BRCA1 status, so it was important that I could trust my team. That’s one thing I’ve learnt so far on this journey: you have to be comfortable with your decisions, and with the knowledge you’ve been given. If you’re not comfortable, or if something doesn’t feel right be brave enough to speak up. Don’t be afraid to ask more questions or to seek out a second opinions.
I’ve also had to learn to trust myself and my body. There’s been a journey of self-discovery and reflection – emotionally and physically. I’ve learnt what my triggers are, what makes me feel safe, and knowing that it’s okay to want to socialise sometimes and other times to be alone. It’s been an important period of self-growth.
Family and friends mean well, at times it may feel as though people can come across as insensitive but remember they don’t know as much as you do about your own diagnosis. I live with this gene every day. I’ve created an Instagram page (separate to my personal social media pages) to inform people about my diagnosis and journey. It’s been a way to educate others about what I’m going through.
My genetics counsellor recommended Pink Hope to me, along with other resources for further information and support. It’s been invaluable to be able to connect with people just like me, even though they’ve had different paths and lives. I do like that everyone is accepted for who they are and we’re all free to express ourselves and share our experiences. Everyone’s feelings are valid.