THE DAY THAT CHANGED MY LIFE
- keepingmylife
- Oct 1, 2019
- 5 min read
Updated: Oct 12, 2019
I remember the day clearly. It was 10th May 2019, it was pouring down rain, I was seven months pregnant with my third child and I was about to find out the results of some genetic testing that would change my life forever.
A little about me.
My name is Sara Stapleton. I grew up in Geelong. I’m the oldest of six children, yes you read that right, six! We consist of three girls and three boys. We range in age from me being 38 to my youngest sibling who is 17. Yes my parents are crazy, yes they had a television, yes they planned every one of us and now they have the complete brady bunch. I have a loving husband and three beautiful children of my own. They are my world and I adore them with my whole heart. I am eternally grateful for the things I have, a roof over my head, food, a husband and three children to love. I am a positive, glass half full kind of girl. I am also a realist. My disposition, however, was about to be challenged.
My sister’s breast cancer journey.
In May 2018, my sister, aged 33, was diagnosed with breast cancer. She endured chemotherapy, radiation therapy, a double mastectomy and implant reconstruction. As part of her breast cancer care, she participated in genetic testing to understand why she suffered from breast cancer so young. She tested positive for the BRCA2 gene mutation which placed her at a much higher risk of developing breast cancer then the general population, hence her diagnosis.
What is BRCA 2?
After some personal research, I found that we all have BRCA2 genes located at chromosome 13. The BRCA2 gene is a tumour suppressor gene, however people who test positive for the mutation lack the ability to fight certain cancers, should they develop. This places them at a higher risk of developing breast, ovarian, prostate and pancreatic cancers. The gene mutation does not discriminate, it affects both males and females.
According to the Peter MacCallum Cancer Centre, alone, there is a 69% chance of developing breast cancer in these people’s lifetimes. Yes, males can get breast cancer too! My sister hardly stood a chance, however she didn’t know she had this mutation at the time.
Since we learnt of my sisters BRCA2 positive result, most of my immediate family members have undergone genetic testing.
10th May 2019
Five weeks prior to this day, I attended genetic counselling at the Andrew Love Cancer Centre to be informed that as my sister was BRCA2 positive I was eligible for the same testing. The test was offered to my mum, dad and siblings, some of which are still yet to complete it. At this stage I thought nothing of it, it is what it is and we can put a plan in place to manage my cancer risk so be it. That same day I had a blood test which was sent to America to be assessed and I was informed that it would be up to a 12 week turnaround time for the results. How agonising! However, five weeks is all it took to change my life forever.
So far mum had tested negative, and dad had not yet received his results. I was hopeful that he may have been negative too and that my sister’s mutation had mutated out of thin air. Oh how I was terribly wrong. This horrible gene mutation is inherited from either an immediate maternal or paternal family member.
Dad’s result appointment was immediately before mine. I arrived at the centre, hopeful and feeling positive that my result would be negative. My hopes were somewhat shattered when, as you guessed it, I learnt that my dad was positive for the BRCA2 gene mutation. This meant I had a 50% chance of inheriting the gene mutation from him.
I was called in for my result appointment, my mum, dad and sister promptly entered the room. My sister of whom was wheeled in by dad in her wheelchair after having undergone another breast cancer related surgery. I sat there in complete shock and disbelief as the genetic counsellor informed me that my result was positive and that I had inherited the BRCA2 gene mutation from my dad. At that point the sheer consequence of it all did not kick in, as the genetic counsellor proceeded to inform me of my breast, ovarian and pancreatic cancer risk along with monitoring and prophylactic surgery options. As I looked at my sister in her wheelchair suffering post-surgical effects, it did, however, cross my mind that I could be in that position one day. I began to feel nauseated.
What it means to be BRCA2 positive.
Being BRCA2 positive means I have a harmful pathogenic gene mutation that increases my cancer risk. According to the Peter MacCallum Cancer Centre and eviQ the risks are:
· 69% chance of developing breast cancer which peaks in the 40’s (I am currently 38!).
· 17% chance of developing ovarian cancer.
· 5% change of developing pancreatic cancer.
To put it into perspective, eviQ states the general population’s risk of developing these cancers is breast 12.5%, ovarian 1.2% and pancreatic 1.5 %.
The Peter MacCallum Cancer Centre highlights that a woman’s family history influences the risk, in other words, a BRCA2 carrier who had one or more relatives with breast cancer is at higher risk than a BRCA2 carrier with no family history. Hence, as my sister has had breast cancer, my risk of that alone is higher!
The journey ahead.
Since learning of my positive test result I have received documentation from the Royal Melbourne Familial Cancer Clinic outlining the ways to manage my cancer risk. These include:
· Regular breast screening by MRI yearly. This does not reduce my risk of cancer, however merely picks up any cancer cells early.
· Preventative breast surgery known as a prophylactic bilateral mastectomy which reduces my cancer risk by 90%.
· Surgery to remove both ovaries and fallopian tubes known as a bilateral salipingo-oophorectomy by age 45. Currently there are no effective screening methods to detect ovarian cancer at an early stage. This surgery is recommended as in some cases, by the time ovarian cancer is detected, it is a death sentence.
· Avoid smoking. Well, this one I can do quite easily as I do not smoke.
· Pancreatic cancer is quite rare. There is a screening research study in place at the Austin Hospital in Melbourne if I wish to participate.
· My children have a 1 in 2 (50%) chance of inheriting the same BRCA 2 gene mutation from me and could consider being tested when they reach adulthood. Well that sucks as I have three children so the likelihood that at least one of them has inherited this gene mutation is rather high!
And so my journey begins……
Reference credits:
Peter MacCallum Cancer Centre https://www.petermac.org/news/clearer-picture-cancer-risk-women-brca1-or-brca2-gene-mutations
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