In October 2017, I visited a genetic specialist on the NHS to discuss getting tested for the BRCA gene alterations. I had asked my GP to refer me as my husband and best friend kept asking me to get tested so I had made the appointment to make them happy. I was fully expecting to get tested that day but instead I was asked a load of questions about my family history and when I told them my mum had died from secondary breast cancer when she was 59 years old after being diagnosed at 54 and her mum had died from secondary breast cancer when she 51 after being diagnosed at 48 they responded saying there was not enough young cancer in my family to warrant getting tested. They explained that if there was a BRCA gene alteration in the family there would be a lot more young ovarian and breast cancer across the family tree. And so, I left that day feeling like I could now tell my husband and friend that there was nothing to worry about. 

And for the next few years I didn’t worry about cancer really. Until suddenly my family tree started to have a lot more young cancer in it when my big sister was rushed to hospital with a pleural effusion and the fluid they drained from her lungs turned out to be stage 4b ovarian cancer. She had been feeling tired but had put it down to working a lot and renovating a house. She was 43 years old and started chemotherapy immediately in July 2019.  

This diagnosis totally rocked our worlds. My big sister is my half-sister on my Dad’s side of the family and our Dad is an Ashkenazi Jew. Due to her age and our Dad’s genetics Emma was tested for the BRCA gene alterations. I remember getting the call in August when I was walking along the promenade in Marbella, Spain, to say the test had come back positive for BRCA1. We both felt such sadness. From her, she said she felt sadness having to tell her family they might also carry the altered gene and from me I felt sadness for a possible different future to what I thought. I had two young children but had always thought I would have a third. The thought of potentially having the BRCA gene alteration and being 37 meant I started to worry I might not have the time to have another child before having to think of preventative measures. My mind totally ran away with me in that moment.

When I returned to London from our Summer away in September life became very busy with getting the kids back to school, work and supporting my sister with chemo and getting her ready for her op. I knew I needed to sort out BRCA testing, but the weeks just flew by. And then one Friday in November I felt a huge swelling underneath my armpit whilst on a chemo ward with my sister whilst she was having her bloods taken. It was a painful swelling and I wasn’t too worried about it but on advice from my sisters nurse I booked to see my GP that day.  

He felt 3 swollen lymph nodes and referred me for an ultrasound. Before I knew it, I was diagnosed with stage 2 Grade 3 triple negative breast cancer and was on the same chemotherapy as my big sister. The day my results came back for gene testing, they confirmed I too carried the BRCA1 gene alteration – it was the day I cried my biggest cry. The day I grieved fully. I knew my treatment would eventually stop and I could start to try and forge a life forward from breast cancer having caught it relatively early. But being a BRCA1 carrier was something I’d have for life. And my heart weighed heavy thinking of my two small children, just 6 and 4 at the time, and the thought that there was a 50/50 chance I had given this to them too. My heart was broken. 

Since that day in February 2020, I have had 16 rounds of chemotherapy, 18 rounds of immunotherapy, a double mastectomy and reconstruction with my tummy tissue and 15 rounds of radiotherapy, getting the all clear in March 2021. In January 2022 I had my ovaries and fallopian tubes removed to remove my risk of getting ovarian cancer, thrusting me into the surgical menopause. 

My big sister finished all her chemo in February 2020 and took the PARP inhibitor Olaparib for two years post that. She is now back at work and is my absolute miracle sister, as she has no evidence of disease.

Professor Mary-Claire King has said before “Every breast or ovarian cancer patient with a BRCA1 or BRCA2 alteration detected after diagnosis is a missed opportunity to prevent cancer” and I really feel this. There are new screening protocols now in the UK for BRCA where if you have 1 Jewish Grandparent you can be screened on the NHS. If this had been in place in 2017, I would have been tested and both my sister and I may never have been diagnosed with cancer.

Finding out you carry these alterations comes with its own grief and big decisions that need to be made. I co-host a monthly support group with Charlie from The BRCA Project at Future Dreams House to support anyone with BRCA whether they have a diagnosis or not, we are all in this together. However, knowing you carry these altered genes and that you can be empowered to prevent a diagnosis is huge. To not have to live with the fear of a recurrence or be left with the many body changes that brutal chemotherapy can leave you with, plays such a big part of having the knowledge of this gene alteration and taking powerful steps to prevent cancer. I wish I had the opportunity to know about it earlier and I’m hopeful that my children will be able to equip themselves with the knowledge and support when the time comes. 

For anyone new to finding out they carry a gene alteration please know there is so much support out there. A tribe of incredibly lovely people that can hold your hand every step of the way. You are not alone.