A genetic time bomb: How one woman broke the BRCA cycle

How Libby Margolin turned her BRCA diagnosis into advocacy for genetic testing and PGD.

By LIBBY MARGOLIN DECEMBER 3, 2024 01:19 Updated: DECEMBER 3, 2024 01:53

The secret to healing what ails you lies within your own DNA (photo credit: DREAMSTIME)

For some generations, cancer has cast its dark shadow over my family: My mother and aunt both won a few battles against it, but lost the war and succumbed to the disease the third or fourth time it relapsed. My mother was advised by her doctors to undergo genetic testing to see if our family has a genetic mutation that makes us more susceptible to cancer. When her results came back positive, I knew I must take the same test myself.

The results confirmed my worst fears: I was a carrier of a BRCA gene mutation. At the age of 25, I found myself sitting in front of the genetic adviser, who explained that I have an 85% chance of having breast cancer in my lifetime, and 50% to have ovarian cancer.

Understanding the near-certain illness that awaits me, I decided to learn what alternatives I had to escape my mother and aunt’s fate. A woman in her twenties should be thinking of her studies, which parties to go to, which guys to date, and so on. Instead, I was thinking about risk-reducing surgeries – when should I have the surgeons remove my breasts? How quickly can I, a single woman at the time, conclude my family-building stage, so they can take away my ovaries before they kill me?

While the diagnosis was a shock, it also empowered me with knowledge and gave me a chance to make these decisions that will potentially save my life. When I was 30, my sister, then 37, was diagnosed with the same type of violent breast cancer that took our mother. This was when I made the unbearable decision to undergo a preventative double mastectomy – cutting healthy pieces of my body, because of their potentially fatal risks.Throughout these difficult times, my sister and I mostly had each other for support. We often felt alone when dealing with the difficult choices our genes confronted us with.

I knew the statistics the genetic adviser gave me: 1 in 40 Jewish Ashkenazis has this genetic disorder (up to 10 times more often than the general population). These mutations are prevalent also among other origins of Jews (Iraqi, for example). So where were all these women? Where were all my gene-sisters?

‘While the diagnosis – as a carrier of a BRCA gene mutation – was a shock, it also empowered me with knowledge and gave me a chance to make these decisions that will potentially save my life,’ Libby Margolin writes. (credit: YIFAT YOGEV)

Raising awarness

I first got lucky when I learned about a book that tells the story of a BRCA carrier. That’s how I met the author, Karin Aharon, who wrote from her personal experience as a carrier. We became friends and decided soon after, along with my sister, to start a community on social media – specifically for carriers of genes that increase the risk of hereditary cancer. This was when we started our “Good BRCA Genes” community on Facebook.

The community’s goals were to promote awareness of hereditary cancer, encouraging people to undergo genetic testing so they are able to make informed decisions instead of playing a very unfavorable Russian roulette. We also provide information about procedures, choices that must be made, doctors and clinics that specialize in treating and diagnosing carriers like us.

Above all – we provide support to each other. I often say our goal is to provide a “soft landing” for any newly diagnosed mutation carrier. The soft landing I didn’t have 10 years ago when I was first diagnosed.

Hearing the different stories of members in our group, we realized there was more to be done: We needed representation before policy-makers in the Health Ministry. We needed to organize lectures and conventions to teach carriers of the choices they have. We wanted to support our sisters when they have to undergo risk-reducing surgeries or, in worse cases, chemotherapy and other treatments.

These pressing issues drove us to form an NGO, by the same name of our online community, where we address these issues and many more.

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PGD: A ray of hope

Somewhere along my journey with BRCA, I met my husband, and at some point, found myself contemplating about the family I wanted to raise with him. The emotional and physical toll of my previous experiences with BRCA was compounded by a deeper concern: the potential for my children to inherit this genetic burden. 

The prospect of passing on this ticking time bomb to my offspring was unbearable. I decided that my BRCA legacy will end with me. I will have children, but I will do everything in my power so that they won’t have to make the hard decisions that I was forced to make. I will do my best so that my grandchildren won’t have to bury their mothers as I had to bury mine.

Currently, the only means to prevent passing on mutated genes is through Preimplantation Genetic Diagnosis (PGD). This advanced reproductive technology allows for the screening of embryos for genetic diseases, including BRCA mutations. By selecting only BRCA mutation-free embryos for implantation, couples can significantly reduce the risk of passing on these harmful genes to their children.

Unfortunately, PGD for BRCA is not covered by public health insurance in Israel. The cost of this procedure can be prohibitive, making it inaccessible to many families who need it. This disparity highlights a troubling inequity in our healthcare system: While those with the means can invest in the genetic health of their offspring, others are left to face the uncertainty and fear of hereditary disease.

We were fortunate enough to raise the financial resources necessary and opted to pursue PGD. Of all the hard choices I had to make, this was the easiest one, as it was driven by a deep-seated desire to protect future generations from the same fate that has plagued my family.

Today, I’m the mother of two boys, who were screened by PGD. I’m grateful knowing that they will not pass the BRCA mutation on to their sons and daughters. Lobbying to make PGD available to all BRCA mutation carriers has become another one of our NGO’s goals, along with other advanced diagnostics and treatments that are not yet covered by public health insurance.

By sharing my story, I hope to raise awareness of the importance of genetic testing and inspire greater access to lifesaving technologies like PGD. Knowledge is power, and with the right support, every carrier can make informed decisions to protect themselves and future generations.

The writer is one of the founders of the Good Genes association.