The Mutants

During radiotherapy, I was asked to go and have a chat with the genetic counselling department at the Western General in Edinburgh. I had heard of other ladies going but expected they would tell me I wasn’t eligible for testing due to my limited family history of cancer. I had found out a few months earlier that my Mum’s cousin (on my Grandfather’s side) had been treated for breast cancer in her early 30’s but that was all I knew of.
However, due to my age, the severity of my diagnosis and her age at diagnosis, I was offered the test.

There are a few known genetic alterations that can seriously impact the risk of developing breast and ovarian cancer. The most well known, at the moment, are the BRCA1 and BRCA2 gene alterations. You’re probably thinking ‘is that what Angelina Jolie has?’  I’m assuming this because I’ve been asked this question at least 200 times. Yes it is. I’m glad she has used her BRCA1 diagnosis to raise awareness but it’s important to note that she hasn’t had cancer. She has the genetic mutation and has used this knowledge to allow her the opportunity to take preventative measures.


I was called back in around 3 weeks later and told that I had tested positive for the BRCA2 gene alteration. I’ll be honest, it was another blow to find this out but I was almost relieved to find out my cancer had developed, not because of something I’d done wrong, but because of my dodgy, inherited genes.

As soon as I received the news, my Mum, Sister and Gran were all invited to be tested. My Gran tested negative but unfortunately Mum and Irana tested positive. Our family are really being pushed to their limits with this cancer crap!
It was a really tough time for us all. I felt guilty (despite knowing I couldn’t have done anything to change it). Not only was it directly affecting my life, it had now weasled it’s way into the lives of the people I love most.

Having the BRCA2 diagnosis has the following main implications:

1. Women who have the gene change have up to an 85% chance of developing breast cancer in their lifetime.

2. They also have up to a 30% chance of developing ovarian cancer.

The diagram below breaks down risk by age too.


I think this really brings home the amplified risk having this gene change, particularly with regards to breast cancer.

Having this knowledge is frightening. It’s like knowing you’re probably going to get hit by a car but expected to continue crossing the road.
The bonus of knowing this, however, is that you are now in a position to take measures to reduce your risk.

Having a bilateral prophylactic mastectomy has been shown to reduce the risk of breast cancer by at least 95 percent in women who have the BRCA1/2 mutation

Having a bilateral prophylactic salpingo-oopherectomy has been shown to reduce the risk of ovarian cancer by approximately 90 percent and the risk of breast cancer by approximately 50 percent in women at very high risk of developing these diseases.

Not bad odds!

So, another mastectomy is in my immediate future, followed by a reconstruction of my ‘bad’ side. The oopherectomy isn’t offered to women under the age of 35 so I’ll need to wait another year for that. My mum and sister have already had their oopherectomy (and are both healing nicely)
Irana is having her double mastectomy with immediate reconstruction soon.

I personally think that the risk of developing cancer vs the risk reduction from surgery makes it a no brainer. I won’t lie, having the surgery is painful and the healing time is long, but this is a decision that could potentially extend my life to that of a ‘normal’ person. I want that. I want it for me, for Steph, for my family and friends.
If that means being a menopausal, hot flushing, scarred, silicon boobed crazy lady, that’s the price I’ll pay.



The one about the eggs

This post is about the fertility treatment I had just after my cancer diagnosis.
After I’d had the scans to determine my stage/grade and treatment plan, I was asked a question. “Did you plan on having any children?”. Another crushing blow was dealt. If I wanted to save my own life, it would be at the sacrifice of my fertility.
We had planned to start a family but had put it off for years to get my business off the ground. Ironically, the decision to stop working was very easy. I no longer cared about being a success or having money, I just wanted to be well and have all the things I’d assumed
I could have without worrying. I wanted to get married, have a baby, grow old…
My cancer, as far as they knew, had not spread to my lymph nodes and my surgeon was prepared to wait for one week to allow me a very small chance at IVF.
We attended a few appointments at Ninewells fertility department in Dundee and started an excelled course of hormone treatment to encourage egg production. This meant injecting myself a couple of times a day and becoming even more hormonal and insane than I already was. I recall a particular crazy lady incident where I screamed at Steph in the middle of a busy shopping centre then promptly burst into tears for all to see.
Once the week was up, I went for my first (of many) operations. This was to remove all of my eggs and ‘introduce’ them to Steph’s little swimmers, leave them to party and hope for the best!
It was a quick operation and I was on my way home the same day. It was very emotional and felt so rushed and frightening. Luckily, we got a call the next day telling us it had been very successful and that 12 out of the 14 eggs that had been retrieved had been fertilised and would go into the freezer until we were ready for them.
Phew! Phase one complete.
Sort of.


Lots of things have changed since then (which I’ll get to) but, at the beginning, when there is so much on front of you, it’s very important to be able to ‘tick off’ things on your cancer to do list.
It felt like a positive step and that maybe, a normal life would still be within my grasp. I just had to get through a mastectomy, chemo and radiotherapy first….