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At 25 years of age I learned that I was a carrier of the BRCA1 gene. Prompted by the death of my aunty and grandmother and the diagnosis of another aunt with breast cancer, our family was among the first in Melbourne to undergo testing. My father told me of his positive test and after genetic counseling, my sister and I underwent testing soon thereafter.
Worst-case scenario for my father- both his daughters carried the gene and he dealt with this news as he watched his second sister pass away after her battle with breast cancer. It was watching my aunty deal with surgery, chemotherapy and palliative care that finally made me aware of the implications this test result had on my life, and from this time forward it began to affect my decisions on a number of levels.
The aggressive nature of the cancer in my family and the fact that all three of my family members had not responded to treatment motivated my sister and I to investigate a range of preventative measures including preventative mastectomy and removal of our ovaries. We were both young and had not had families. I was not in a relationship and the enormity of these measures and the implications it had on our futures made me decide to defer any major decisions and take my chances with screening and regular monitoring.
After many professional opinions and a lot of independent reading I began to get very disheartened and the lack of clear advice on what was the correct decision. Screening was not infallible and in the years since my test results I have had all number of tests to get definitive results on lumps found in my breast which all give a moderate reassurance that things are O.K for now.
The biggest positive in all of this was meeting my husband who took all of this on board and agreed that starting a family was priority to allow me to have a greater range of options available to me. My husband and I talked about gene testing in the early stages of pregnancy with the view to elective termination of a girl with the gene. Whilst many would see this as a highly contentious decision neither of us wanted to see our children have to face the decisions that faced us.
At 29 we started trying to have a family and I immediately fell pregnant. On reviewing our discussions I started to feel very differently and after many tears we decided that the decision to terminate an otherwise healthy child was too difficult. We proceeded with the pregnancy, excited about becoming parents and anxious about the sex of our child.
Tears of relief came months later when we gave birth to a baby boy. Whilst we were aware that our son could still be a carrier, the health implications for him would be far fewer than if we had had a daughter. After settling into life as parents we decided to have another child as soon as possible and after hearing a radio report on IVF technology available to assist with carriers of cancer genes we headed back to genetic counseling and soon found ourselves speaking to IVF specialists about the possible of Preimplatation Genetic Diagnosis (PGD).
PGD is a new testing procedure offered by some IVF departments that enables the doctors to screen for the genetic condition and implant embryos that were negative. At first we thought this was the solution to all of our problems, but we soon learned that although the technology was available, no one in Victoria had used it for BRCA and that if we wanted to, we would have to apply to the Infertility Treatment Authority in Victoria . In effect we would be a test case.
Amidst the cry of “designer babies” from some sections of the community, it was made clear that it would not be automatically accepted as a legitimate use of PGD. Despite this, the genetic service applied on our behalf to the tribunal but they were unsure on how long it would take to get a response and it was possible that we could not get started for over a year.
As a fertile couple we wrongly assumed that IVF would be fairly straightforward if we were able to go ahead with the testing, but we were informed that each cycle had a 25 percent success rate, and therefore it may take up to another year to have a successful pregnancy even if the tribunal did accept our application.
I was getting closer in age to the age that my aunties were when they were diagnosed with cancer and I was conscious of delaying further pregnancies. None of the options we faced seemed straightforward. Our choices became; 1) to take our chance again without any testing, 2) Wait for IVF approval or 3) Test early in pregnancy and terminate if I was carrying a female child with the gene.
We decided to test early in pregnancy and again I fell pregnant quickly. Arriving to have the test at 11 weeks pregnant, my husband and I sat in the car once more confirming that we were happy with the decision and felt that we had the strength to act on our decisions if the result was not good.
The test was not a pleasant experience and the 2 days waiting for results that followed were worse that waiting for my own test results 5 years earlier. I cried and cried when the genetic counselor rang to advise me that we were fortunate enough to be having another little boy. The relief was so great.
Ironically on the same day as our test results came through, the Infertility Treatment Authority granted us permission to use PGD. Despite this ruling being too late for us with the pregnancy, it has now become an option if we decide to have any more children and for my sister, cousins and anyone else in Victoria who is BRCA positive for whom the process will be more straightforward.
As I write this, my little boy is asleep and the next one kicks away inside my belly. I have been very fortunate with our results and am aware that this story could have had a very different ending. The decisions we have made have been based on my family history, an uncertain future and a desire to spare our children any grief that cancer can cause in families. Advances in medical technology are responsible for some of our unwanted genetic news, but it now seems they are also available to help us deal with it.
Our state representative Gerda Evan’s, has recently formed a genetics interest group which is linked by email. If you are interested, contact Gerda on:
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Kristi Brown 
