I discovered I was a BRCA1 mutation carrier in January 2018, at the age of 24 (I would have turned 25 at the end of that year). The test was carried out after my mom got ovarian cancer at a very advanced stage in 2016 and after she tested positive for BRCA1. Before she got sick, my mom used to have regular check-ups and neither she nor I knew that ovarian cancer is one of the most subtle cancers. It eludes control and only manifests itself when it has already spread. Before her, around 2006, my grandmother had had breast cancer at the age of 66 (an age that had not raised suspicions in terms of genetic risk). Other aunts had also fallen ill with breast cancer. However, until 2016, no doctor had ever mentioned genetic risk to us, nor were we aware that there might be such a possibility. We only learned about Angelina Jolie’s famous story after the genetic test….
I was therefore the first in my family to discover the mutation without developing the disease. In 2018 I started a regular prevention programme by having breast and ovary ultrasounds every 6 months and an annual breast MRI. I also joined a trial for BRCA mutated women that analysed the impact of dietary and lifestyle habits on BRCA mutated people (both healthy and ill). During the trial, I had to follow a diet low in sugar, meat and dairy products for 6 months and was given precise instructions on how to balance my meals. I also started doing sports more regularly (which I didn’t do before…). After the trial, I could have stopped, but I continued as I felt better (physically and psychologically) and, looking at the results of the trial, I felt I was limiting my risk of getting ill. To this day, I still follow the same lifestyle.
I knew from the beginning that I wanted to have a preventive mastectomy, but when you are young, still in the study period, it is not easy to decide on such a thing or to plan for it on a practical level. I moved from Italy to Belgium, started a new relationship, moved from several internships to a stable job, Covid came along, and it was only in 2022 that I started planning my mastectomy. I made the final decision after they found two small lumps in my right breast in October 2022. Ultrasound, biopsy, a lot of fear, but fortunately they were benign lumps. That very day I said: I must have surgery. I had a preventive mastectomy with immediate reconstruction via prosthesis in March 2024 and I would never go back.
In the meantime, my partner and I decided to have a baby via in vitro fertilisation and pre-implantation testing (at Erasme Hospital). For me there was no discussion. In no way do I want to pass the mutation on to my children and IVF with PGT was the only option. The path is long, tortuous, and with many psychological ups and downs, but together we overcome everything. As of today, we are about to start the concrete phase of the procedure, after the genetic pre-test is finished.
Having seen what ovarian cancer can cause and how sneaky it is, I will definitely remove my ovaries before the age of 40. The fear of early menopause is there, and it is big, but I know I’ll do this not only for me, but also and above all for my partner and our future children.
BRCA network for me is a mission and a hope, for the many people who have fallen ill unaware of the mutation and for all those who can act when they are still healthy knowing they are mutated.
BRCA network asbl/vzw
