Stefanie: "I am determined to see this treatment as a precious gift of life"

In the general population, around 1 in every 400 to 1 in every 800 people carry a BRCA1/2 gene fault. This figure is, however, significantly higher for people from an Ashkenazi Jewish background, like Stefanie, where it rises to 1 in 40. After losing her mum to ovarian cancer in 2015 and discovering that she too is BRCA positive, Stefanie made the decision to go ahead with preventative surgery.

"I am a carrier of the BRCA gene fault, which makes me far more likely than most women to develop breast or ovarian cancer in my lifetime. The risk for BRCA2+ women like me is 55-70 per cent, compared to the estimated 11 per cent risk in the general population.

Ashkenazi Jews are at greater risk of carrying this fault, which is a terrible legacy. Yet, while preventative surgery has meant removing the things that, biologically, define my gender, I am determined to see this treatment as a precious gift of life.

My beautiful, strong, incredible mother, Lesley, passed away two years ago and didn’t have this chance.

A few years after my mum got diagnosed with ovarian cancer, she invited me and my brothers Mitchell and Spencer over. She sat us down and explained to us that she had decided to be tested for something called the BRCA gene fault, because she’d become aware that there may be new treatments available to people who were carriers. We were unaware of any family history, so she wasn’t expecting to test positively — but she had.

I didn’t actually take in much of what she was saying but I remember her explaining to the three of us that, as a woman, my risk was greater than my brothers. However, she insisted that I wasn’t to do anything about it until after I’d had my children. Noted.

Fast forward to January 2015, when I was 5 months pregnant with my second child and Mum was admitted to hospital before finally being transferred to the North London Hospice. She and the whole family were given the most incredible support and care as she approached the end of her beautiful, wonderful life.

Her room was filled with colourful drawings from the many kids in our family. My brother Mitchell set up speakers in her room and we were serenaded with Barbra Streisand songs. I still can’t listen to her music without being transported back to that time. Believe it or not, we laughed. Mum wouldn’t let us feel sorry for ourselves, she wouldn’t let us wallow and we only cried a handful of times — once when I asked her how I was going to give birth without her…

She passed away in the early hours of 3rd March 2015 and I did indeed give birth to my second child Leila eight weeks later, without Mum there to hold my hand (in person anyway). The circle of life is a strange one and it was probably the most difficult, bitter-sweet thing I’ve ever had to do. After surviving that, I knew I could handle anything and as I held my baby daughter in my arms, I made the decision to go ahead and get tested for the BRCA fault. I was told to expect the results in a few weeks’ time.

Time passed quickly — such is the way with two young kids — and, to be honest, I completely forgot about the results until one day at bath-time. My husband Lee and I were juggling trying to keep the children calm so they’d go to sleep easily (wishful thinking) — trying to keep more of the bath water in the bath than on the floor, and getting them both dressed for bed. The phone rang and when I picked it up it was my genetics counsellor.

“Oh hi! How are you?” I said, taken aback. She sounded serious and went on to say that she was very sorry but I had tested positive for the BRCA2 fault. I told her not to worry — weird things happen when you’re trying to multi-task — and that I’d call her back once I’d spoken to my family.

Lee and I settled the children in bed and then had a chance to digest the news. I still felt the same — it was what it was and, anyway, I had overcome the almost impossible by staying sane after losing my mum.

I made a vow to myself there and then, that I would do everything in my power to keep this attitude. After all, that’s how Mum was and she had cancer and I don’t, so how on earth could I approach this journey in any other way than celebrating the choice I had been given? Everything I do in life, I still do to make Mum proud, and my attitude to the surgery was no different.

We shared the news with the rest of the family. My father, Trevor, gave me all his support and I’m forever grateful that he always made Mum feel beautiful, even at her lowest times.

My mum’s sister, Doreen, shares my positivity and has been by my side at every appointment. She didn’t miss a heartbeat of my mum’s journey and is doing the same for me. How blessed I am to have her. How blessed that she also shares this attitude.

The first step to our journey was to deal with the ovaries. I quickly found out that, soon after having this operation, the body goes into the menopause. The menopause! Oh no…mood swings, low sex drive, hot flushes — the list goes on and I feared for my husband and me. I was only 37 and felt far too young to be going through something so potentially life-changing.

The next step was to go and see the surgeon about my breasts. He asked whether I wanted to have implants or a tummy tuck to use as reconstruction, at which point, I went very quiet because the answer was so obvious. Is there a woman out there who wouldn’t want a tummy tuck? My auntie leaned forward and said if he needed to, he was welcome to use some of her tummy!

It has been a strange journey so far, but I’ve tried to remain upbeat. Mum remains vividly in our hearts and minds, never more so than at family celebrations. But although we’re sad she can’t be with us, I try my best to look for the positives. Remembering the mother I was blessed to have had; watching my beautiful children Johnny and Leila growing up; having my wonderful husband by my side; and celebrating all that comes with being a woman."

Diagnosis and treatment for ovarian cancers lags behind high profile diseases like prostate or breast cancer and we think this is unacceptable. That’s why we’re on a mission to fund research that saves lives. Take action and donate today.