Sisters Jess, 35, and Nicole,32, have Ashkenazi Jewish heritage and both carry the BRCA2 gene variant but as Nicole says,“although we both have the gene, our journeys have been very different”.
In 2016 their dad and uncle found out that they were BRCA2 carriers. They were prompted to get genetic testing following conversations in their wider family about their health history.
“Dad’s mum died of breast cancer aged 34 and we knew that the Ashkenazi Jewish community have a higher chance of developing some types of cancer”, says Jess. “Although we didn’t really know what that meant”, adds Nicole.
“I remember I went to see my GP about it”, says Nicole, “and they asked me ‘why would you want this hanging over you? You’re so young. Go and live your life and come back in 15 years and we’ll talk about it.’ I turned to the internet, and I found the Pink Hope website. It was so empowering because there was a whole network of people sharing their stories. That was really comforting, and we both felt so much less alone to have that support, which I think is really important”.
When they tested positive for the BRCA2 gene they talked with a genetics counsellor, Nicole says “It was a bit hard to digest. I found the information very scientific, and I didn’t really understand what the outcome was going to be and the practical impact for me”.
Initially they had different views about how to monitor their risk. Nicole says,"Straight away I said I wanted a mastectomy. Jess wanted to follow the guidance and do the regular checks. I got overwhelmed, so I decided to also just go to my appointments and have the scans”.
Things changed in 2017 when they went for their routine screening MRI and Jess was diagnosed with breast cancer on her 30th birthday.
I did have a really dull ache in my breast, and I thought it was probably just related to my period. It wasn't something that I thought could be cancer. There was no sign. I couldn’t feel it”.
Her first breast surgeon told her that she would need a double mastectomy and radiotherapy, but something didn’t feel right, so Jess sought a second opinion.“My second surgeon told me that I had a fast-growing and aggressive triple negative breast cancer, and that I would need chemotherapy. That was quite shocking because I didn’t think I would need chemotherapy the week before, but then I was being told I did”.
Jess had a lumpectomy and IVF before chemotherapy. She then had a double mastectomy with expanders followed by animplant-based reconstruction later.
Nicole says, “Once Jess had her diagnosis, I went back to the genetic counsellor to find out what that meant for me. They told me I now had an 89.7% chance of developing breast cancer. Just a cold number, which is very difficult to understand what that means”.
The Pink Hope community again helped. “I think that’s what is so important about Pink Hope. To be able to speak to other people that were in that similar situation and to understand their thoughts and feelings,what it's meant for them and what their outcome has been, that’s just been the most valuable”, Nicole adds. Following her sister’s diagnosis, Nicole had a risk-reduction mastectomy and breast reconstruction.
They both acknowledge that they’ve had to make difficult decisions, but Jess says “We felt so fortunate that we had the opportunity to know that we could find out we had this gene and could do something about it. Our grandmother didn't have that choice and she lost her life so early. The fact that we could find out and then manage it wasn't a negative thing. It was like, we need to know this, and this is part of who we are”.
“There is a lot of anxiety and fear, but early detection is key”, says Jess, “knowing that I had the gene saved my life. If I didn't know I had the gene and I'd waited till I could actually feel my lump, I can confidently say I would not be sitting here today. It would've been too late. If you can find out you have a gene and you can monitor things, it's going to place you in a much better position”.
That knowledge has helped protect their family for the future too, with embryo testing. “It is scary. It’s a philosophical choice and I agonised over it”, Jess says. “We've both had PGD testing on our embryos and we both have daughters, and they don't have the BRCA gene. It’s exciting that we could cut it off. And this baby won't have it either”, Jess adds, pointing to her sister’s baby-bump.
By Luan Lawrenson-Woods.
