Before- my journey through genetic testing for the BRCA1 alteration

Fenella is currently going through the process of genetic testing to see whether she has an alteration on her BRCA1 gene- which would increase her risk of both breast and ovarian cancer. Here she blogs about the process and how it feels heading into BRCA testing.

10 years ago my Grandpa (a gentle and loving man) was found to have the BRCA1 alteration. This was looked into due to a history of his many sisters dying early because of breast cancer (p.s. look at your family tree). My mother, found out she was also positive for the BRCA1 alteration in July that same year. She then got a mammogram in early August which was found to be clear. 2 weeks later, she had a MRI scan which showed two tiny tumours (0.5 and 0.7mm) next to each other. This looked suspicious, so what followed was a biopsy confirming it to be cancer (grade 3), oestrogen receptor positive.

Six weeks later she had a double mastectomy and preventative surgery to remove her ovaries, it was then that it was found that four of her lymph nodes were positive for cancer too. She then had chemotherapy and tamoxifen followed with radiotherapy treatments for a year.

She has just come off her steroid treatment. She takes VitD and calcium for osteoporosis risk due to early induced menopause. She is now cancer free. Her hair and eyelashes/eyebrows never grew back properly.

Last year I was contacted by the genetic counselling department in the NHS and have been going to sessions (compulsory with the NHS) to prepare me for the news that I could have the BRCA1 gene alteration. This gives you a 80% chance of getting breast cancer and 60% of ovarian cancer in your lifetime. We have spoken about my current risk, what the stages are of finding out and once I have, the consequences of having your breasts removed, and IVF to remove the gene alteration from my future children. The service has been incredible and my genetic specialist is amazing.

How I feel now? It’s a big question and quite complex. I first want to highlight that cancer is never a done deal; the lasting effects should be spoken about more. How the effects of chemotherapy break your confidence, with your hair and eyelashes gone, in an appearance-focused society is a struggle. I think there needs to be more awareness about it.

Talking about menopause is slowly coming into the public domain but there is still acceptance and conversations needed. As a women, your breasts and ability to have children feel very much part of being feminine, which I don’t think is right and is an unfair expectation. So, what I am speaking about I guess is the political dimension of what being a women means and how having a gynaecological cancer challenges that.

I feel very fortunate and grateful to be in a position where I can prevent myself from having cancer and stop the BRCA1 gene alteration from being passed onto future generations.

Scientific research really is changing people’s lives.

I am so glad that women’s health is being more prioritised as it hasn’t been for so many years. I am so grateful for the work of Nottingham City Hospital for saving my mother and that it was all done so quickly. I worry that the covid pandemic has impacted on the speed of diagnosis which is so crucial with improving a prognosis. I just hope that we can continue to spread awareness, support women in menopause and those who are struggling with the lasting effects of cancer and get people checked for BRCA alterations so we can save their lives.

What follows? I have a blood test and results coming in just over a months time- will keep you updated. (The reality makes me feel a bit sick!)