Ode to my Mother

Ode to my Mother

Not all traits should be inherited from mother to daughter

Words: Anon.

We were not to know at the time that the breast cancer that would eventually take my mother from us in January 2003 was anything more than the luck of the draw – the shortest straw so to speak. It was only much later that I was to learn that due to a mutation in the BRCA 2 gene – normally a cancer inhibiting gene – that our mother had always carried a 50-85 percent lifetime chance of developing this deadly disease. And in turn, as her children, we would also have a 50 percent chance of having inherited this mutated gene.
Mum first discovered a lump in her breast at the age of 40 – young for a woman to develop breast cancer, but not unheard of. Ten years later this cancer had spread to her throat, bones and brain, effectively meaning that our mother had terminal cancer.
I first heard about mutant genes from my mother’s younger half-sister when she also developed breast cancer at 36 years of age. Developing cancer, especially at such a young age, sent my aunt seeking all the information that she could find about breast cancer. At the time, the BRCA genes had only recently been discovered. A conversation between my aunt and myself about these newly discovered mutant genes was to mark the beginning of my own journey into the world of genetic breast (and ovarian) cancer.
I talked with my mother briefly about the possibility of having inherited a genetic defect, especially given the young ages that both my mother and my aunt developed breast cancer. My mother’s response at the time was that she was tired of being ‘poked and prodded’ and that she was not interested in pursuing this query. We did, however, have a joint conversation with my mother’s oncologist about the possibility of a BRCA-related defect, and what was suggested was that my mother would provide a sample of her blood that would become mine to do with what I wanted following her death.
After 10 long years of fighting the cancer and periods of remission and false belief that perhaps mum had finally beaten the cancer this time, my mother died at the age of 50. I was 28-years-old at the time.
Having already started undergoing annual mammograms in acknowledgement of our family potentially being a high-risk family for cancer, I discussed the option of testing my mother’s blood for the BRCA defect not long after my mother’s death. This led to a meeting with a genetic counsellor to ascertain my suitability for testing. It would not be until two years later that the test results returned from Australia, with a test result of negative.
I continued with my annual mammograms before it was suggested that given the negative result of my mother’s blood, my young age, the lower accuracy rates of mammography in young women due to their higher breast density, and the associated small risk of the radiation emitted from mammograms that I did not need to continue with my annual surveillance. My attitude at the time was that I would be led by the experts and was simply trying to be proactive about my health. This led to a follow-up by a genetic counsellor who held a different view, given the history of my family. This counsellor suggested that despite the initial negative results received I consider having my mother’s blood retested, given the advances in genetic testing that had occurred over recent years. Again, being led by the relative experts, I agreed to this re-testing although was not fully prepared for the results that came back.
There had indeed been advances in genetic testing with the second round of testing taking only two months to be returned. In 2008 I was advised that my mother had indeed been BRCA 2 positive. These new results led to a decision as to whether I would be tested or choose to live without knowing. It also led to a cautious conversation led by my genetic counsellor about obtaining health insurance and questions of whether I was wanting to have children of my own. Although calm at the time of the news of my mother’s test results, I later had a teary conversation with my fiancée about whether he really wanted to marry a person who had a higher disposition than others of developing cancer.
In November 2011 my test results were ready. My doctor rung me to advise that my test results were in and to arrange an appointment for the following day, as my genetic counsellor would not be available to meet again for a couple of months. My test results showed that just like my mother, I too carried the BRCA 2 gene, in essence meaning that I have a 50-85 percent lifetime chance of developing breast cancer, and a 20-40 percent chance of developing ovarian cancer. In addition, I had a 50 percent chance of passing on my defective genes to any future children that I might choose to have. I took the news calmly and recall my GP saying that I was being incredibly pragmatic about the news. My internal mantra at the time was a repeated “I am not sick, I am not sick”.
Of course my roller coaster of emotions and my total enmeshment in all things BRCA related was only just beginning. My initial response to my results was that I would ‘get rid of the problem’ by electing for a prophylactic mastectomy and breast reconstruction as well as a future salpingo oophorectomy (removal of the ovaries and fallopian tubes). Effectively this would reduce my chances of developing both breast and ovarian cancer to significantly less than the general population. I even went so far as to sit down with senior staff at my work (three males) to educate them about BRCA mutations before announcing my intended surgery. It was only when I went for the initial consultation with my breast surgeon that I began to have a change of heart and vanity kicked in. I began to change my internal dialogue to ‘I would rather have mutant genes than mutant breasts’ following the nippleless breast reconstructions that I had viewed.
Since finding out that I am BRCA 2 positive I have continued to participate in high surveillance monitoring that involves six appointments a year – two six-monthly breast checks, an annual mammogram; a transvaginal ultrasound and examination; a gynaecologist appointment and examination; annual blood tests to monitor my CA-125 levels (markers indicative of the development of ovarian cancer) as well as annual MRI scans. I feel privileged (and sometimes guilty) that although I am essentially healthy, that the health oversight and monitoring that I receive could potentially be perceived as superior to the healthcare received by people who are unwell.
Last October I attended the first ever BRCA conference held in New Zealand in Christchurch. This conference was organised by The Gift of Knowledge – a New Zealand- based organisation that has been established “to provide information and support to people who are impacted by a genetic pre-disposition to cancer”. For the first time in my life I met others who shared a similar diagnosis, including a significant majority who had chosen to follow through with prophylactic surgery, some viewing their breasts as inherent time bombs simply biding their time before turning against their host.  I both shared a camaraderie and admiration for these women for the brave choices that they had made – despite it remaining not my choice.
Currently I am content with my choice to continue to monitor my health via the high surveillance regime that is in place. I have always chosen not to have children, however I have a niece and two nephews who, dependent upon their parent’s genetic make-up, may or may not also carry the BRCA genetic mutation. My husband and some chosen friends are aware of my diagnosis and available as needed for emotional support. As time has gone on I no longer feel the need to immerse (or pathologise) myself 24/7 in the world of BRCA, however I remain aware and consider myself proactive in monitoring my own health and well-being. That said I am also mindful that I am only four years away from turning 40 – the year my mother was first diagnosed with cancer, and it may be that my mindset changes the closer I get to this age.
I write this article in memory of my mother and in acknowledgement of the indomitable survivor spirit that my mother demonstrated. As the Gift of Knowledge website states “Knowledge is control. Not total control, but so much more than feeling helpless”. For further information about The Gift of Knowledge go to www.giftofknowledge.co.nz.

Research round up

What we know about hereditary breast cancer and the breast cancer (BRCA) genes

Words: Jenni Scarlet and Ian Campbell

Genes hold the instructions that tell our bodies how to grow and develop. We all inherit a set of genes from each of our parents. Sometimes a fault in a gene can change the instruction the gene sends to the body. This fault is called a mutation and some mutations can significantly increase the risk of developing certain types of cancer. Mutations can cause cancers to develop at a younger age. There are several known heritable gene mutations that may be involved in the development of breast or ovarian cancer. The most common mutations are in the BRCA1 and BRCA2 genes.
It is important to remember that most breast cancer occurs by chance and only around 5-10 percent is hereditary (due to inheriting a faulty gene). There is more suspicion regarding an inherited predisposition to breast (and/or ovarian) cancer in a family if:
a) A number of close relatives on the same side of the family have been diagnosed with breast cancer;
b) There are other close relatives who have been diagnosed with a related cancer such as ovarian cancer;
c) The cancers have been diagnosed at younger ages, e.g. 30s or 40s;
d) A close male relative has breast cancer.
There is a common misconception that familial breast cancer cannot be inherited from a father. Breast cancer gene mutations are not sex linked so a father can pass on a BRCA1 or 2 mutation. It is therefore important to know your family history on both sides of the family.
Referral for genetic counselling and testing through a publicly funded genetics service is available in New Zealand (with some limitations) for families who suspect that they have an inherited gene fault.
Testing needs to start with an affected relative and involves a blood test. If a mutation is found, other family members may then be tested. To have a test or not is a complex decision, with a number of major ramifications for the individual being tested depending on the results. The most positive outcome is for other family members to find they are not carrying the mutation. For those who are, however, special cancer surveillance options need to be considered and even prophylactic surgery (removal of ovaries or breasts to prevent cancer). This is especially the case for the ovaries, where we do not currently have good surveillance methods. The complexity of these decisions is the reason "counselling" is so important for families considering testing.