We always knew there was family history of breast cancer, after my late grandmother had been diagnosed not once, but twice over a 15 year period. But it wasn’t something we were proactively discussing as a family, or seeking screening for, it was just something in the back of our minds.
But when, at 33 years old, my elder sister, Sara, was diagnosed with breast cancer, our world fell out from beneath us, and as a family, we had to work hard to pick up the pieces to support one another during what was an excruciatingly difficult time. Not only were we faced with the practicalities of the childcare, but the confronting nature that is cancer – what is the prognosis, will she survive?
Six years on – she’s beautifully healthy and living a dream life over in the UK.
It was at this time, that due to the age of my sister and the family history, that we all underwent genetic testing, quickly and surprisingly discovering that we – not only myself, but my sister, my brother, and our mother, were BRCA1 mutation carriers.
Upon hearing this news, my new husband and I hit the brakes on what had been the initial stages of us trying to start our own family, so that I could do the typical ‘me’ thing – and go away and research, and really understand what the impact of BRCA1 might mean for not only myself but our future family.
Within ten weeks I had decided that although my desire to breast feed was great, my dream to be alive to watch my future family grow up was greater, and under the knife I went – getting a double prophylactic mastectomy direct to implant reconstruction. I felt as though in making this decision I was on the journey to living a healthy, long life full of family and hope.
From here however, I needed to make the decision regarding my ovaries. I was only 30, but knew that as a BRCA1 carrier, time was quickly getting away from me.
A genetic counsellor had originally mentioned that IVF was an option for mutation carriers who were concerned about passing on their gene fault to future children.
My husband and I went away and thought long and hard about this. Recognising that not every family has the opportunity to make this choice, we decided that IVF was going to be the right path for us because we wanted to do whatever we could, in our own situation, to protect our children from a future full of fear of cancer.
We went to our local IVF clinic and had an initial consultation, me in true form, asking all the questions I needed to feel as though, in addition to my online searching, that I was making the right choice.
At the time, they had an older PGD style, meaning that it took six months to simply do karryo-mapping to determine the DNA profile test and determine where the faults lay. This included blood tests of not only my husband and I, but both sets of parents too!
It was an incredibly arduous wait, and as we got ever closer to the end of the six months, our fertility specialist mentioned there was a ‘new’ technology available that could do the Karryo-mapping in just a matter of weeks, so instead we jumped ship, and opted for this new technology – and we were the first couple in Australia to do so!
Fast forward a few weeks and I was pumping myself full of hormones, in our first round of IVF to extract eggs and develop embryos with my husband’s sperm.
The process was incredibly challenging both emotionally and physically, and not only for myself but my husband too. After a mastectomy I thought I could take on the world, but IVF was more difficult than I’d prepared myself for. Courtesy of the hormones, I was an emotional wreck.
I think the hardest part perhaps was all the waiting times – from the hormones, through to the egg harvesting through to the biopsy. At each stage there is a chance of losing more viable eggs, with the very possibility that at the end of all of it, you could end up with none.
The first harvest managed to extract 12 eggs, and out of these 12, some had chromosomal abnormalities, some died during thawing, and in the end, we ended up with just two for mutation testing. One had the BRCA1 mutation, and one didn’t.
They implanted the one good egg, and in some kind of miracle, our beautiful baby Sophie was born. What I didn’t realise in getting Sophie, was how much harder the IVF process could become as we began to prepare for our second attempt to give Sophie a sibling. In the second round of IVF, they extracted 20 eggs, and following the removal of chromosomal abnormalities we again ended up with two embryos. Again, one with BRCA which was male and one without.
We put the male BRCA carrier embryo in storage, and inserted the second embryo, however sadly after six weeks I lost our second baby.
The shock was insurmountable. I was utterly devastated, and my doctors were equally surprised.
The embryo had been deemed ‘perfect’ and so the doctors explored the unusual situation which led them to discover I carried an increased count of what’s known as NK (Natural Killer Cells, your body’s natural defence against ‘invaders’), with my body working against the pregnancy.
We were essentially back to the drawing board, and I was starting to worry. At this stage, my fear wasn’t so much around not having another child, but my fear of developing ovarian cancer as a direct result of all the hormones I was taking to plump my ovaries for harvesting.
While my doctor was wonderful, he acknowledged that at the time (this is two years ago), there had been no studies for BRCA carriers who had undergone IVF and whether there was an increase in risk as a result. With this in mind, my husband and I decided that we would give it one last shot, and if all else failed, we were blessed with our beautiful Sophie.
The final time, we collected 30-something eggs. Out of which, six survived and all six carried BRCA1, so extraordinarily unlucky.
But then we remembered we still had the embryo available from our second round. In consultation with our doctors and genetic counsellors, we weighed up the pros and cons of having a baby that had a known mutation. For us, and our personal circumstance, we knew that BRCA1 had smaller immediate risks for a male carrier and so this helped us accept that.
And so, our bouncing, independent boy Jack was born.
The whole process was finally over and we are blessed with two beautiful, healthy babies.
I can’t say the journey was easy, but when you see your children playing, Sophie with her spunk and vocals that could tear down a house, and Jack with his fierce independence and can-do attitude, it makes the journey all worth it.
For any woman looking to explore IVF due to their genetic risk, I highly encourage you to do your research, know what you are and are not comfortable accepting, and ask questions, because knowledge is power and it’s a huge opportunity to make a change for your future and that of your family.
This content is brought to you in partnership with Conceive Please.