Julia's Story

29 Jun 2020

My BRCA1 story is intimately connected to my experience of infertility.  Being told by doctors that the only way to reduce my risk of ovarian cancer — which killed my paternal grandmother when she was 48 — was the removal of my ovaries and fallopian tubes, was devastating to hear when I was desperately trying to have children.

It was the perfect storm.  I was in my late 30s at the time, working in a foreign city in a very high stress job, away from family and close friends.

My husband and I moved overseas in late 2012 for my ‘dream job’.  We had been together a few years by then and had tried having children on and off but hadn’t pursued it seriously because I was so committed to my job.  I stopped taking the contraceptive pill in 2014 so that we could seriously start trying.  My menstrual cycles were a bit different than before — they came a little more often and the bleeding lasted a shorter amount of time.  At first, I thought this was just part of the transition back after taking the contraceptive pill.  But I found out later that this was likely indicative of something else.

Just before Christmas 2014, when I was 38, our fertility specialist told us the results of all the tests she had done: I had a very low ovarian reserve and she recommended we pursue an aggressive IVF strategy and also consider finding an egg donor.  I was shocked.  I had honestly expected the doctor to say that our difficulties getting pregnant was something to do with my husband.  Up until that point, I had never had any health problems - I exercised regularly, maintained a healthy weight and ate reasonably well.  I grew up in a family of four, my mother also grew up in a family of four, and my father’s mother had nine children before she succumbed to ovarian cancer.  So problems with my own fertility seemed only a remote possibility to me.

Around the same time, my younger sister had finally persuaded me to get tested for the BRCA1 mutation.  Like my sister and my father and many of his extended family, I found that I had the mutation.  My father’s family first started getting tested for BRCA1 after my first cousin got breast cancer when she was only 30.  It is likely that we all inherited the BRCA1 mutation from my paternal grandmother.

I was given the usual recommendations by doctors to manage my breast and ovarian cancer risks.  Having never been pregnant and desperately trying to get my ovaries to produce a viable egg in our IVF treatment, it was particularly difficult to hear the recommendation that I get my ovaries removed from age 40.  I felt that we were in a desperate race against time.

It also transpired that there was a possible link between my infertility and my BRCA1 status.  There is some scientific evidence and it’s been hypothesised that BRCA mutation carriers, especially BRCA1 mutation carriers, are correlated with decreased ovarian reserve and premature ovarian failure, leading to infertility and early menopause.  The irony of my infertility being possibly BRCA1-related, and therefore transmitted from my grandmother who’d had nine children, was not lost on me.

We tried many rounds of IVF - I lost count - both overseas and back in Australia, to no avail: I didn’t have enough/any viable eggs left.  My infertility greatly impacted my sense of identity and purpose as a woman, my self-esteem, and expectations for the future.  I had always known that I definitely wanted to have children, and the genuine prospect that we might never have a family was an incredible grief.  And without any outward-facing illness to point to, and no miscarriages, most people had little idea of how hard I was finding it to keep pushing forward.  Without realising it, I used to draw some inner confidence and resilience from the knowledge of my good physical health and strength.  But my body had betrayed me on my most intrinsic and fundamental need, to have children, and without giving me any advance warning.  I also felt guilty for being the cause of disappointment and difficulty for my husband, who was a great source of strength and support for me throughout.

Grief and despair would overwhelm me sometimes, and I would have to take time off work periodically.  Family occasions were difficult.  Shortly after we returned to live in Australia in 2016, we attended the christening of my brother’s little girl.  It was also Mother’s Day.  I looked around the room at the gathering of extended family and realised that I was the only grown woman there who wasn’t also a mother.  It made me feel so alone and so empty.  (On recollection, it’s likely that my reflection probably wasn’t correct, but that’s how I felt at the time.)

Then came our miracle breakthrough.  My younger sister, who already had two children, offered to do an IVF cycle to donate her eggs to us.  I accepted her offer, but without allowing myself to believe that it would work.  (I was also lucky enough to receive a second offer of egg donation, from my oldest friend.  I was so touched and grateful for both offers.)  When I became pregnant, after the successful transfer of an embryo created from my sister’s egg and husband’s sperm via IVF, I still tried not to get my hopes up.  But at 7 weeks, there was a strong heartbeat; at the 12 week ultrasound, there was a beautiful and healthy foetus.  Our precious baby girl joined our family in 2018, and continues to be the light of our lives.  I am overwhelmingly grateful to my sister for her gift.

As part of the IVF process, we had the option to screen out embryos that might have carried the BRCA1 genetic mutation.  We chose not to do so.  There was already so much medical tampering going on as part of the IVF process, that we wanted to minimise further interventions and let nature take its course.  So it’s possible that our daughter also carries the BRCA1 genetic mutation.  I hope not.

Just before my daughter’s second birthday, I finally took the big step of having my ovaries and fallopian tubes surgically removed at the start of 2020.  I had entertained the fantasy of getting pregnant naturally and giving my daughter a brother or sister so that she would have a companion.  But at 43, I was acutely aware that I was around the same age as my grandmother had been when she got ovarian cancer.  Before the surgery I was pretty worried about what menopause would be like, but the Hormone Replacement Therapy (HRT) that I’m on must be working okay because I haven’t experienced discomfort or symptoms.

My younger sister has been really brave.  Not only was she prepared to donate a part of herself - her eggs - to us so that we could become pregnant, she also underwent a preventive double mastectomy when she was 35.  I don’t feel at all ready to do the same myself.  I assume it will need to happen in the future, but in the meantime I will continue regular breast screening (MRI, mammogram, ultrasound) to manage the risk.

The years of strain that I experienced due to my infertility and cancer risks, while also experiencing chronic stress at work over a long period, really depleted my emotional reserves and resilience.  I did of course receive a huge emotional boost from the arrival of my daughter, but I now use all of that energy to support her.  I probably wouldn’t have the emotional reserves available to cope well if I got breast cancer right now.  I’m working with my GP and counsellors to build up my strength again.