Navigating genetic risk and parenthood - opinion

When I was 32, I came out of a doctor’s office crying for the first time. I had been married for a year and we were trying to conceive. And yet, this isn’t a story about fertility issues.

Let’s backtrack a bit. Three years earlier, my mother battled breast cancer – an intense year of chemotherapy, radiation, and surgery. She, my inspiration, managed to be a cancer poster-girl, doing yoga and maintaining high spirits better than anyone I’ve known. Spoiler alert – she’s from who I inherited my award winning can-do attitude, among other things.

And to add to that, she discovered she was carrying the BRCA gene. We were surprised as we weren’t aware of many previous cases in our family.

Dr. Rinat Bernstein-Molho, a specialist in oncology and genetics and Director of the Oncogenetics Unit at Sheba Medical Center, explains that the mutated BRCA gene disrupts a protein function that is crucial in repair of damage in the genetic material, increasing cancer development risk. Carriers face a 60%-80% chance of breast cancer (compared to 13% for the general population of women) and up to 50% risk of ovarian cancer.

A confirmed carrier

Following what was now my family history, I was urged to get tested, and sadly, at age 29, confirmed I was carrying the gene too.

This gene significantly raises my risk of breast and ovarian cancer, and my mother was terrified for my destiny.

In the years that have passed, I’ve gone through all 5 stages of grief multiple times. At first, it was mostly denial. I’m a doer, so quickly after that I shifted into project management mode – finding different doctors, scheduling regular scans like annual MRIs and mammograms.

At the time, I was career-driven, not ready for marriage or kids, and certainly not ready to confront my cancer risk. I knew early on that I’d need my ovaries removed before 40, shortening my window for having a family. I had to make some life-changing decisions. Should I have kids earlier than planned? Make career sacrifices? How will I handle knowing that my children got the BRCA gene from me?

Back to that tearful doctor’s visit. Upon learning I was a BRCA carrier, the fertility doctor recommended a solution: IVF with an additional step to prevent passing on my genes. It’s costly and not covered by the public health system for BRCA, but he was adamant that it’s the right medical solution for my situation. Realizing the arduous path to family-building, I faced an impossible choice: endure the long, emotionally draining and expensive route, or risk my kids facing the same ordeal: at best, regular anxiety around every scan and risk-reducing surgeries (removing ovaries and possibly breasts – literally harvesting healthy organs); or dealing with an especially aggressive cancer.

Or in my case – both. At 39, after my second maternity leave and after having removed my ovaries only months before, I was unfortunately diagnosed with Triple-Negative Breast Cancer (TNBC) – the especially aggressive kind that’s most common in BRCA carriers. Thankfully, due to regular checks, it was diagnosed early, highly treatable, and now, after a double mastectomy and chemotherapy, I’m cancer-free and aiming to stay that way.

Over the years, I’ve also been part of the Good BRCA Genes community – a nonprofit organization that runs a community of 3000+ Israeli women with BRCA. Here, I have found support and resources for years – first with the everyday of regular scans, checks, anxiety, and recently – through diagnosis and recovery. Many stories here echo mine – women finding out and coping with being carriers or battling cancer. In my family, all female carriers faced cancer – previous generations at 50+, mine at 30+. Turns out, at least in the support group “Good BRCA Genes,” this trend is common among BRCA carriers.

My fertility journey has been a long one. I am fortunate to have been able to afford Preimplantation Genetic Testing (PGT) – which means not passing the BRCA gene to my kids. Unfortunately – I was only able to do this for my son, while my daughter was conceived without and therefore has a 50% chance of being a BRCA carrier herself. Until she gets tested (possible in Israel only after 18), I will have to live with the knowledge that she may have to face everything I do. It will break my heart to find out that she is a BRCA carrier, but I will do my best to be there for her and help her with her choices.

For me, knowledge is power. When I was tested, I was only able to do so due to my mom’s history. Today, says Dr. Bernstein-Molho, the genetic test for BRCA is free for all Ashkenazi women (even if only one grandparent is of Ashkenazi descent) in Israel. This is because the BRCA mutation is found in 1 of every 40 Ashkenazi men and women (yes, men can be carriers too, and though their risk is lower than women’s, it still exists for several other types of cancer such as prostate, breast, and pancreas).

According to Dr. Bernstein-Molho, “early detection can impact possible oncological treatments and save lives. Globally and in Israel, about 50% of women who have breast cancer and are found to be carriers of BRCA mutations after diagnosis, have no family history suggesting carrier status. If these women were tested, they would know they are carriers and could ensure appropriate monitoring, and discovering the disease at an earlier stage.”

So first, ladies – go get tested! And men – talk to your wives/sisters/daughters/friends.

I personally know dozens of stories about lives saved thanks to being tested.

And second – I’m hopeful that PGT will be made accessible to more women. While it’s not for most, as it requires going through the emotionally draining and potentially very long journey of IVF, I believe women should have the choice not to pass this awful gene and everything that comes with it to the next generation, especially in families where literally ALL women who carry the gene face cancer, often at a very young age. I truly hope that my daughter, as well as any other potential mother who carries the BRCA gene will have this technology available for her, if she so chooses.

And I also pray that she won’t ever need it.

The writer is a member of the board of Good BRCA Genes, a nonprofit organization.