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Genetic Counselling – One Family’s Story

21 Oct 2015 by Krystal Barter
Genetic Counselling – One Family’s Story

Pink Hope Outreach Ambassador Jane describes her personal experience with genetic counselling and testing.

Jane and Sam

My genetic experience started almost 20 years ago, in my mid thirties. I had been having regular yearly mammograms from the time I was thirty, and my doctor thought it was time to see a breast surgeon, so that if anything happened I was all organised. After a few visits, my surgeon thought that it was worth undertaking genetic counselling. I was given all the forms to fill in, details of where to go, and sent away. Over the next few years I looked at the forms a number of times, how was I going to fill them in, how was I going to find out about my family history and many other questions came to mind. In the end, trying to look after two children on my own and working got in the way, and it went into the too hard basket. I did not know anyone who had been through what I had, who had lost their mum to breast cancer, and had other family members who also had breast cancer.

Over the next ten or so years, I continued to have my mammograms, although I stopped going to see the breast surgeon. In 2004, I had to go back to my surgeon and have a suspicious lump removed. This started the next chapter in my breast cancer journey. It turned out that it was not something sinister, but the need to keep close watch was indicated, and I started my yearly mammogram and ultra sound screening at the Breast Unit at the Mercy.

In 2008, after my years of screening, suspicious changes were found, and after a raft of testing they discovered that I had DCIS and the next chapter started. Whilst going through the process of mastectomies, my surgeon again bought up the idea of undertaking genetic testing. So a referral letter was sent to Peter Mac, long forms filled in, family history found out (much easier this time as I had since met most of my cousins and with email connections, I was able to provide information on all family members required) and more time on my hand, we made an appointment.

In July 2009, we turned up at Peter Mac, my daughter, Sam and my sister, Amanda came along to hear what they thought and what we should do going forward. Well, it felt disappointing at the time; they felt that whilst we were all considered to be high risk of breast cancer, they could not see the link between my cancer and my mothers, so in effect we did not qualify to be tested under the Government Scheme. We were told that we were more than welcome to be tested, but that it would be at our own expense, something over $3,000. Money we did not have spare, having spent most of my money trying to live and pay for other surgeries and medical expenses.

In 2012, I was very lucky to meet Heather Thorne. After a long discussion, she told me that Kconfab would be more than happy to take on me and my family and look into the possibility that we could be carrying a gene fault of some sort. But whatever the outcome, and however many family members wanted to get involved, they were happy to test us at no cost. Wow at last we felt that we had been taken seriously, and that someone was interested to find out if there was a link, whether it be through BRCA 1 or 2, or some other unknown or new gene.

So last year, both Sam and I filled in our forms, answered lots of questions and then had our blood test. This year both my son, Daniel and my sister are in the process of being tested at some stage very soon. We have not heard anything yet, but who knows, we are doing everything we can to manage the risks presented to us, so that we can make decisions in the future, to spare our family and reduce the risks of breast cancer going forward.

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