Last week, Angelina Jolie spoke out bravely about choosing to have a double mastectomy. She’d discovered that she had a genetic fault (which can be passed down from one generation to the next) that significantly increases the risk of her getting breast cancer. Her decision to have a mastectomy means her risk drops from around 87% to under 5% (that’s according to Angelina, other women’s risk might be different).
This week, sisters Sophie and Kirsty Allsopp have spoken about this too. They also discovered they have a faulty gene that raises their risk of getting breast cancer; Sophie has already had surgery and TV presenter Kirsty has decided to have the op as well.
Of course, it’s not something that just affects celebrities. Caroline Presho has spoken to us about the time she discovered she had a faulty gene that can cause breast cancer, how it affected her and how she came to her decision to have a preventative double mastectomy. I give you Caroline’s story…
My dad and my auntie were like chalk and cheese. Auntie Rene was a tidy homemaker and my dad kept everything, stating “You never know when it might come in useful!” They did have one thing in common and that was their BRCA2 mutation [if there is a mutation in the body’s BRCA1 and BRCA2 genes, this can significantly increase a person’s chance of getting breast cancer. Women are also much more likely to develop ovarian cancer if they have such a genetic fault – ed.].
We didn’t get to know about it until 2002 when Auntie Rene was diagnosed with Ovarian Cancer. It was when she was asked about her family history of Breast and Ovarian Cancer that an alarming pattern became apparent. Her mother, my paternal grandmother died of Breast Cancer in her 40s, my great aunt and her daughter also had breast cancer and goodness knows how many more that no one knew about or were long forgotten. What made it more significant was that my family is of Ashkenazi Jewish descent – 1 in 40 Ashkenazi Jews have a BRCA mutation. A genetic test was done and came back showing a BRCA2 mutation.
Auntie Rene gave my sister and I a “To whom it may concern” letter from The Royal Marsden Hospital stating that she had a BRCA2 mutation and as family members we should be tested. Not knowing what it all meant and also trying to ignore all the 85% risk of this and 40% risk of that I decided it wasn’t anything I need worry about and stuck the letter in a drawer and carried on with life.
In 2006, after much nagging, I decided to go and see my GP. I took along the letter from The Royal Marsden and the information I was able to glean from family members and explained to him that I would like a genetic test for a BRCA mutation. He looked at the letter, asked me who in my family had suffered with Breast Cancer, said he had just been on a course about this subject, mulled it over for a minute and then announced that he didn’t think I would have a mutation so I should stop worrying about it and carry on as usual. I stupidly took his word as gospel!
Why shouldn’t I believe my doctor? After all, he had studied medicine for 7 years and knew all about these things and he had just been on a course. I went about my daily life and didn’t really give BRCA another thought until my Auntie died in 2007 and my dad died 10 days after her. They both died of cancer – My Auntie’s was BRCA related and my dad’s wasn’t. As we were all trying to get over the shock of losing 2 family members so close together, my mum got a phone call asking to speak to my dad. She explained he had passed away and asked who was calling. The man at the end of the phone explained he was a Genetic Consultant and had the results of my dad’s BRCA test and he had tested positive for a BRCA2 mutation. We were all in shock as he hadn’t told us he had even been tested.
The Consultant suggested my sister and I and our half sisters from our dad’s previous marriage got tested. We all did as was suggested and my sister and I went together for our results. We discussed it beforehand and said that we either wanted both of us to be negative or both to be positive so we could go through whatever the outcome was together. Unfortunately we got the news that we were both positive whilst our half sisters were both negative.
Receiving the news was like hitting a brick wall head on – all I remember of the conversation with the Genetic Consultant was a lot of percentages and a lot of different words like Breast Cancer, Ovarian Cancer, mastectomy, oopherectomy – words that weren’t in my everyday vocabulary. I came out feeling numb. I knew straight away what I wanted to do in the future but wanted to wait for screening first.
I was 33 and armed with information that had suddenly changed my life. I had 3 children and I worried that I had broken them in some way. What if I had passed it on to them? It is a horrible feeling knowing you have the potential to develop something but not actually having anything wrong with you – it really messes with your head. As soon as I hit 35 I started a screening programme and had a mammogram and a breast MRI – both of which made me giggle at the indignity of getting my tiny boobs out and having them squished in a big machine and then lying on a bed with boob holes and going in a tunnel listening to what sounded like gunfire!
It all ceased to make me giggle when I got the results showing a shadow on both breasts. I was called back for an ultrasound and the days I had to wait for the results were the longest of my life! The results came back clear but hardened my resolve to get rid of the danger boobs! I couldn’t live with that hanging over my head.
Within less than a year I had my preventative double mastectomy with immediate reconstruction and had cut my risk of developing Breast Cancer from 85% to 2%. I woke up from my surgery with the hugest sense of relief. Even looking down at my bandaged, bruised chest I felt happy knowing that I had been able to take advantage of the knowledge I had been given and do something with it.
I ‘met’ lots of other ladies online going through the same as me and we supported each other on our BRCA journeys, affectionately calling ourselves mutants. We shared our fears, supported each other through our darkest moments and giggled through the funny ones. To this day I count some of these women among my closest friends – although we have lost some along the way, but those losses only made me realise that what I had done was the right thing for me and my family.
Being BRCA+ isn’t a life sentence and I will never forget what my Genetic Consultant told me the day I got my results – “Knowledge is power”.
For further information visit breastcancercampaign.org.
If you are BRCA+, have a family history of Breast of Ovarian Cancer or are worried about them please visit www.brcaumbrella.ning.com.