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Margaret on BRCA2 Mutation

My journey started with my father in late 2004. Family members had suggested my 89 year old father be tested for the mutant gene BRCA2. His mother had died of cancer of the cervix in 1932 at the age of41. His maternal grandfather died at the age of 60 from breast cancer. My father tested positive as being a carrier of the gene though he never did get cancer. My eldest brother died of pancreatic cancer in 2002. He, of course, was not tested but his eldest daughter has tested positive for the gene and has been advised to have a double mastectomy and oophorectomy (removal of the ovaries). My younger brother is a carrier of the gene, as is his daughter who has already had an oophorectomy. The Genetesist Doctor at the Royal Hospital for Women (RHW) Randwick once told me that the gene was rife in my father’s family and maternal grandmother’s family.

When I was tested in February 2005, the results came back positive. About a month later, I was found to have a 14cm tumour with aortic and pelvic lymph nodes affected. I travelled to Sydney where I was operated on to remove the tumour and lymph nodes.

My first dose of chemotherapy at RHW Randwick resulted in a severe allergic reaction. The medical oncologist saved my life after running up two flights of stairs to get to me as the lifts were too slow. My oncologist in Canberra started me on a ten month course of chemotherapy and kept monitoring my tumour markers. My first blood test revealed that my tumour marker was 53,900 (my gynaecological oncologist in Sydney had never seen one this high). By the end of the chemotherapy treatment it had miraculously come down to 12.

In mid-2006 my tumour marker started to creep up. I was put on another course of chemotherapy which wasn’t working too well. In September they trialled me on the drug for breast cancer – Tamoxifen. It was at this point that I was given the “six months to two years” prognosis. I remember that day well. I had arrived home and was quite upset and had some family around me. My daughter phoned me to tell me to watch the news. Steve Irwin, the crocodile hunter, had just died. I was devastated for him. My focus on that news did help take the heat off what I was going through, after all I was still alive and had a chance. Being the fighter I am, I responded well to the treatment and the marker came down again.

In December 2009 I was diagnosed with breast cancer. A mastectomy on my right breast was performed along with a sentinel node biopsy. A small tumour was found on the back wall of the breast (Grade 3) and I was found not to have any lymph nodes involved. I was to have a left mastectomy in 2011, but sadly my breast surgeon died of pancreatic cancer thirteen months after my first mastectomy. I commenced chemotherapy almost immediately. I was also given Herceptin, a breast cancer drug, for well over a year. Arrangements were then made for me to have my second mastectomy.

I was going well until January 2013 when my tumour marker started to go up again. My oncologist in Canberra changed my medication three times over a year and a half. During this time I had also had a PET scan and three CT scans at three month intervals. My medical team were trying to link up my small tumours to ovarian cancer and finally one was big enough to biopsy. Back on the chemotherapy I went. After the first two treatments I was responding very well.

I have really appreciated the support of my medical team, my husband John, my extended family and friends. I see my journey in a positive light. I have met many wonderful people along the way and formed two cancer support groups in Canberra and in Queanbeyan. The cancers haven’t knocked me out. I am as active as I can be and enjoy a wonderful family and social life. I was fortunate that my parents lived to old age and I hope that I will too.

I urge women and men to know their family medical history and to follow up with recommended testing. Listen to your medical team, they really have your best interests at heart. We need to support what they are trying to do – save lives. A focus on women’s cancers and the best way to treat them (especially for ovarian cancer) can achieve that through research and trials.