A Day in the life of a high risk woman/family – Melanie , 30
 
1)      What is your family history?
 
My maternal grandmother died of ovarian cancer when my mother was only 15. She had been diagnosed two and a half years earlier, and died aged 52. Mum is the youngest of five siblings, with three sisters and a brother. Mum had two children, both girls – my younger sister Ellie and I. While I was still quite young, Jane*, the daughter of my mother’s oldest sister Katherine*, was diagnosed with ovarian cancer. Jane* died 5 years later, aged 40.

Going back a generation from my maternal grandmother, it is thought that her sister had breast cancer and her mother had ovarian cancer, though it was not spoken of because it was thought of as a woman’s disease.
 
When she was 36, my mum discovered a lump and after 5 months of persistence, managed to convince the doctors that there was actually something there. She decided to undergo a mastectomy rather than a lumpectomy, and luckily the cancer was encapsulated. The surgeon, believing the lump was benign and probably just a fibro-adenoma, was caught off guard, so mum ended up with a rather brutal scar crossing diagonally over the left side of her chest. I am pleased to say, she has been cancer-free since.

From the time Ellie and I reached puberty, mum made sure we knew the importance of knowing our body, that we should be extra vigilant about changes in our body and know how to do a BSE since she and others in her family had had cancer. This was before we ever knew about inherited cancers or genetic testing for them.

After mum’s recovery, our family moved to a larger country town in order to be closer to larger hospitals in case the cancer returned, and to be near mum’s father and one of her sisters, Ann*.  Ann*, was first diagnosed with breast cancer when she was 51. Following a lumpectomy, she underwent chemotherapy and radiation. Six years later she was diagnosed with fallopian tube cancer (reported to be much like ovarian cancer), detected by the CA125 test.

Katherine* was diagnosed with ovarian cancer almost two years ago, aged 71, and underwent chemotherapy and radiation.
 
Since finding out they both have the BRCA1 mutation a couple of years ago, both Ann* and mum have had preventative mastectomies and full hysterectomies. Mum also opted for breast reconstruction while Ann* decided not to.
 
2)      How have you come to terms with it and what options have you investigated?
 
I think that knowing about the risk of breast cancer from a young age has given me a head start to acceptance. We women are notorious for our body hang-ups, but when it comes to our breasts we refer to them as ‘assets’. I’ve never been particularly attached to my breasts, and in some sense the diagnosis has enabled me to completely detach myself emotionally from them. So it was never really a choice for me – bilateral preventative mastectomy (including nipple removal) and bilateral salpingo-oophorectomy by the time I am 35. Hopefully by then I can manage to have at least one child. At the moment, my plan when the time comes is to have breast reconstruction using tissue expanders under the pectoral muscles and then implants (though I would like a size smaller than I currently have). The only thing I am undecided about is whether or not I’m interested in nipple reconstruction or tattooing.
 
It has been a very easy decision for me. That said, by no means do I think it is, or should be, the same with other high risk women. As women, our breasts and our ovaries are quintessentially what make us women. However, having taken all of the 30 years of my life so far to discover who I am, to be comfortable and proud of it, I am me, and I will still be me minus my breasts and ovaries.
 
3)      Do you think there is enough support and information for high risk families?
 
From day one, I have been managed by the wonderful staff at the Familial Cancer Service at Westmead Hospital. I was actually really surprised at just how much support and information I received once the diagnosis was made. Last year Mum and I attended a support day run by AGSA (the Association of Genetic Support of Australiasia) for families affected by BRCA faults. We found the personal stories and the presentations from the specialists invaluable. It was certainly surprising at how many people were there, but also comforting to know there were others like me out there. Living in Sydney has the advantage of access to basically any service I may need, however outside the metropolitan area people are not so fortunate. I grew up in a country town where my parents still live. Although still a sizeable country city, information and support services on familial cancer are almost non-existent. Over the last two years mum has been involved in a peer support program for other individuals diagnosed with BRCA. Overall, there is support and information available but there can always be more.
 
4)      How has your everyday life been impacted by hereditary cancer?
 
My sister, Ellie was the one who kick started this whole process for our family. While working at Nepean Hospital 4 years ago, she got mum and Ann* involved and they had blood taken and sent away to be screened. Once the same fault was found in both mum and Ann*s DNA, both Ellie and I had our blood taken and sent for testing. In the meantime, Ellie moved up north to Queensland, so it turned out that I got my result before she did (as she needed to come back to Sydney to get the results in person).

It will probably sound bizarre to most people, but I would have been a little disappointed if it turned out that I didn’t have the BRCA mutation. Having grown up being more alert to changes in my body than most other women my age, I felt a sense of relief when they told me the test was positive. In a way, it justified the vigilance over the years. I was 27 when I found out that I have the BRCA1 gene fault.
 
When Ellie was next in Sydney, the two of us went to find out her result. She does not have the gene fault, which is funny in a way since she was the one who got the ball rolling in the first place, but I am forever grateful that she did.
 
The only negative I’ve seen is that my mum feels sadness at having passed on the faulty gene, despite knowing it was completely out of her control. Mum and I have always been good friends, but now we are closer than ever, though not just because of our shared BRCA1 status.
 
5)      Has your BRCA diagnosis changed your outlook on life and the future?
 
The BRCA1 diagnosis has definitely helped clarify my perspective. Prior to the diagnosis, I had a somewhat blasé view of my future and whether I wanted children to be a part of it. The diagnosis has forced me to think long and hard about motherhood, and I realised I definitely want to be a mother. The flip-side of this is that I am now more aware than ever of my biological clock ticking away.

In terms of the breast cancer possibility, I’ve grown up being consistently aware of the importance of knowing my body and being alert to any changes. That said, I certainly haven’t been obsessed with cancer nor have I been a hypochondriac about any irregularity I discover.
 
6)      How important is a community like Pink Hope?
 
A community like Pink Hope is a wonderful source of information and support, particularly in the online age we live in.
 
7)      What is your hope for the future for families like yours?
 
I hope that an effective, affordable screening test to detect Ovarian Cancer in its earliest stages is developed as soon as possible.

I would also like a permanent world-wide ban on anyone patenting genes. I find it absolutely inconceivable that a person or company can patent something that has occurred naturally without any interference from man. It would be like someone patenting the moon, or air. The BRCA faults are a discovery, NOT an invention. It makes me angry that people want to patent something that is a part of me, in effect owning a part of me.
 
A huge thank you to Mel for taking the time to give an insight into her personal BRCA1 journey.