'It was incredibly challenging': the lengths one mum went to avoid passing on a BRCA1 mutation to her children

Jack and Sophie were conceived via IVF
Jack and Sophie were conceived via IVF Photo: Supplied

When Alex Isaac discovered she was a BRCA1 carrier she was certain about one thing - she would do whatever she could to avoid passing the gene mutation on to her own children. 

"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," Ms Isaac says.  

"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."

"We are blessed"
"We are blessed" Photo: Supplied

When, at age 33, her elder sister Sara was diagnosed with breast cancer, they decided as a family to undergo genetic testing. She discovered that herself, her mother and brother were BRCA1 mutation carriers.

"Upon hearing this news, my 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 go away and research, and really understand what the impact of BRCA1 might mean for not only myself but our future family," Ms Isaac says.

"Within ten weeks I had decided that although my desire to breastfeed was great, my dream to be alive to watch my future family grow up was greater, and under the knife I went for a double prophylactic mastectomy direct to implant reconstruction."

According to Cancer Council Australia, women who have inherited the mutation have up to a 60 per cent chance of developing breast cancer and a 20 per cent risk of ovarian cancer.

"I felt as though in making this decision I was on the way to living a healthy, long life full of family and hope," Ms Isaac says.

Ms Isaac further opted to undergo IVF to create her family as this would allow for genetic testing prior to implantation and would eliminate embryos with the gene being transferred. 

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"The challenge we faced with this decision was to decide how many rounds of IVF I would undergo as being a BRCA1 carrier predisposed me at a higher risk of ovarian cancer and stimulating my ovaries I believed increased  this risk," Ms Isaac explains.

"Our first round of IVF was incredibly challenging both emotionally and physically, 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."

At the first harvest they were able to extract 12 eggs of which only two survived and reached mutation testing. From those 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, now four, was born," Ms Isaac says.

"About six-months later I went through a second round of IVF in an attempt to give Sophie a sibling."

Again, they were able to create two embryos, one with a BRCA1 gene which was male and one without. They put the male BRCA carrier in storage and transferred the second embryo. Sadly, Ms Isaac miscarried just after six weeks.   

"The shock was insurmountable, and I was utterly devastated," Ms Isaac recalls.

Tests revealed that Ms Isaac carried an increased count of natural killer cells and her body was working against the pregnancy, which caused the loss.

"We chose to undergo one last round of IVF and although we collected more than 30 eggs and created six embryos, all of them carried BRCA1 and were all female," Ms Isaac says.

As they were about to give-up, they remembered the embryo they had stored away from the second round of IVF.

"In consultation with our doctors and genetic counsellors, we weighed up the pros and cons of having a baby boy with a known mutation and chose to go ahead. We were lucky to be with IVF Australia who allowed us to use a male embryo with a mutation," Ms Isaac says. 

"The third pregnancy with Jack, now two, was very challenging. Having miscarried I still felt emotional trauma and I was also on a therapy in the first trimester known as the Bondi protocol to lower my immunity so, my natural killer cells wouldn't fight off the embryo.

"Gratefully, the whole process is finally over and we're blessed with two beautiful, healthy babies."

For any woman looking to explore IVF due to their genetic risk, Ms Isaac highly encourages her to consult her insurance company prior and claim what you can based on your genetic condition; know your embryo rights and most of all ask many questions.

"Knowledge is power and it's a huge opportunity to make a change for your future and that of your family," Ms Isaac says.

To protect her health further, since completing her family Ms Isaac has removed her fallopian tubes and in 2020 will also remove her ovaries.   

Dr Raelia Lew, fertility specialist at Melbourne IVF and Women's Health Melbourne, explains that IVF and pre-implantation genetic testing (PGT) provides the ability for accurate testing without compromising the embryo, to determine if it has inherited a BRCA mutation or not.

"We've developed robust DNA tests which look for different areas in and around the gene to identify DNA problems and therefore we can prevent transferring disease-causing genes to future generations," Dr Lew says.

"In turn, further genetic testing available during the first trimester, where cells are extracted from the placenta, additionally verifies that the gene has not been transferred."

When it comes to IVF hormone injections stimulating the risk of female cancers, Dr Lew says that the current evidence is reassuring that IVF does not confer increased risk for future hormonal related breast or ovarian cancer.

Dr Lew also confirms that a male with a BRCA gene is at some increased risk of developing breast and other cancers which parents should consider but the decision ultimately lies with them.

"Overall when making reproductive decisions involving genetics it's really complicated. There are many issues involved and lots of information and formal genetic counselling is essential to assist in the best decision making," Dr Lew says.

"The bottom line is that IVF is a pathway parents can go down to avoid passing on the condition, so the mutation stops with them and is a strategy for risk reduction for the next generation."

For information on how to safeguard your family from inheriting your breast cancer risk visit Pink Hope www.pinkhope.com.au