“I remember the appointment so vividly” – carrying a faulty BRCA1 gene

Rebecca Hull, 41, has had a preventative double mastectomy after discovering that she carries a faulty copy of the BRCA1 gene. She works for Cancer Research UK.

Seeing Angelina Jolie talking in the media so prominently this week does have a huge impact on people like me.

I think her announcement will make it easier for me to talk about my experiences, and I feel that I don’t have to justify my decision to people as much – it makes it more acceptable.

I grew up knowing my mum’s mum died in her late 40s of ovarian cancer and I was aware that mum had cousins who died from breast cancer in their 30s.

Then, in the early 1980s, when she was 38, mum had had breast cancer – and a mastectomy.

In 2006, she felt unwell again and, after initially being repeatedly misdiagnosed with IBS and then a chest infection, she was found to have ovarian cancer.

After some confusion, she was finally told she had advanced (stage 4) cancer, and she was given intensive treatment including carboplatin chemotherapy, surgery – and then more chemotherapy. She responded well initially, but the cancer returned, with shadows on the liver and lung.

She had more chemotherapy but the cancer returned again in 2008 – mum knew there was no beating it this time. She was 63 then and was put onto palliative treatment.

Having the gene test

At about the same time, I had been to the doctor for antenatal checks and, in passing, mentioned my family history. My GP took notice and referred me to the clinical genetics department at Guys Hospital in London. In early 2009 we discovered mum had a BRCA 1 gene mutation, so I had a blood test at Guy’s to find out whether I had a genetic risk of the disease too.

I was called back in April to be told I had inherited the BRCA1 mutation and I had a very high chance of developing cancer.  I remember that appointment so vividly, it was a pivotal moment and my life changed forever.

The hospital team at Guy’s were amazing – and I had a multidisciplinary team of specialists who were able to give me advice and support.

Over that summer, I had to tell my mum’s brother, and they had to think about taking the tests too. As it turned out, my uncle tested negative, so I’m the only one currently affected in the family, although I have two daughters and we currently don’t know their status. It was a huge relief that none of my cousins inherited the gene, but it has become a bit of an elephant in the room now that I am the only one.

While all this was happening, I was working and caring for mum, who was deteriorating. She died in October. It was a terrible time.

Rebecca with her children

Having two children, and having seen family members die from breast cancer at the age I was, I decided that I had to have the surgery and, on Valentine’s Day 2010, I had a bilateral mastectomy with reconstruction at the same time.

It was an 11-hour operation and I had to go into intensive care afterwards. I ended up spending 10 days in hospital.

I was off work for three months and it has had a huge impact on my life.  And although the reconstruction didn’t quite go to plan, and I am still having revision surgery to correct this, I have no regrets.

I feel that I have two big challenges ahead of me still:

First, I have to tackle my ovarian cancer risk. This will involve more surgery, as there’s currently no screening programme or understanding as to whether screening would be effective.  In some ways, I am more reticent about this surgery as it comes with significant side-effects as a result of the early menopause that removal of the ovaries brings about.

But the second and probably biggest challenge involves my two daughters. They are both under 10 and there’s a 50/50 chance they will have inherited the BRCA gene. I must plan for how this could impact their lives, so they grow up aware but not scared.

It is going to be difficult but I’m hoping research will improve the situation as they grow up.

Research in the last 30 years has given us so much knowledge, and I hope that this progress will continue so that their future options will be better.

And I’m especially proud to work for an organisation like Cancer Research UK that has such a great track record of research into breast cancer genetics and prevention.

After all, Cancer Research UK scientists helped pinpoint the BRCA1 gene, and this has led to some huge advances in understanding breast cancers. I know that this work was too late for my mum, but it wasn’t too late for me. And I hope they will continue to make progress that will have a huge impact for my daughters too.

It can be hard at times knowing that this defect has caused so much loss in my life, and could create more havoc. But I do feel immensely grateful that I‘ve had options to manage my risk of developing cancer, and I am undoubtedly in a better position than my mum and the generations before her.

Rebecca