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From IVF Coordinator to Patient: Experiencing My Husband’s BRCA Diagnosis

Maya Tsarfati Shapiro | Categories: Features

“I was the guide, leading the women who carried BRCA genetic mutations through the challenge of IVF. Then we found out that my husband carried the same mutation, and I found myself the patient.”

When I graduated Yeshiva University in 2015, I anticipated my first job out of college would be pretty straightforward: first job jitters, deadlines and the thrill of newfound independence. Instead, when I landed a job as the IVF coordinator at a Manhattan fertility center, I was thrown off the deep end into the world of preimplantation screenings and genetic testing.

A friend had referred me to the position and by my first day on the job, my vision of an easy transition into the post-graduate workforce had evaporated. The work that I was involved in each day was incredibly emotionally charged and medically complex. I walked patients through every step of their IVF cycle, mapping out their fertility plan and helping them understand their preimplantation genetic screening results. As the liaison and main point of contact for patients throughout their IVF cycle, I was witness to beautiful moments – when everything went as well as we could have hoped – and the heart-wrenching moments when nothing went as planned.  

During those first few months at the job, I befriended tens of BRCA- positive women who opted for IVF with Preimplantation Genetic Diagnosis (PGD) to screen their embryos for the BRCA mutation. IVF with PGD requires patients to inject themselves with medication for one month in order to increase the number of mature eggs that their body naturally produces. The eggs are manually extracted and then fertilized in a laboratory dish; this way, the resulting embryos can then be screened for the BRCA mutation.

“Geez,” I remember confiding to Ron, my boyfriend, “these women are choosing to go through this hell so that they can make sure their babies are genetically perfect.” The money, the nightly shots in the stomach, the daily monitoring appointments, the invasiveness of it all; I wondered if it was worth it.

A short time after that conversation, Ron confessed that his father, too, carried the BRCA mutation and was sick with pancreatic cancer. As his father’s health slowly eroded, the next few months of our relationship were tumultuous and unpredictable. Everything remains a blur except for a few snapshots – the sprints between work and the hospital; Ron’s father’s face when we told him that we had gotten engaged; the emotional rollercoaster of balancing life and work.

Ron’s father passed away a few weeks after our engagement. For my fiance and I, it was a time filled with guilt, confusion, and hope. I felt guilty for becoming aggravated when my fiance was too consumed with grief to see that I was also spread too thin. But I felt the most guilt for wondering if Ron had the BRCA mutation too, and what that would mean for our future.

It took us some time after our wedding to overcome our fear and face the odds. During the first few months of our marriage, we rarely wanted to bring up the subject of genetic testing. I left my job and began a Ph.D. program in Biology and was no longer dealing with the ups-and-downs of IVF on a daily basis.

A year and a half after we got married, Ron finally got tested for the BRCA mutations. We discovered that he is a carrier for both the BRCA 1 and BRCA 2 mutations. We both knew that since his father was a carrier, the odds of Ron being a carrier, too, were high. I did the Punnett Square and I could explain the science in my sleep – but I was still blindsided by the news. The only person that I told about the results was my sister, in the form of a dramatic, four-paragraph WhatsApp message that tasted of bitter tears and self-pity.

Ron and I went back to the fertility center where I had worked. It felt like the most ironic twist of fate. I was now the patient, awkwardly waiting for my name to be called by the receptionist. And when it finally was, I wished that it hadn’t been. I sat opposite my former coworker, now my doctor, and realized just how tired I was from having the BRCA mutation already govern so much of our lives.

In consultation with our doctor, we decided to do IVF with PGD testing  – the very procedure that, months earlier, I hadn’t been sure was worth it for the women who chose it – so that we could screen our embryos for the BRCA mutations and freeze them for a later implantation date. That way, when we were ready to implant, we could ensure that we would only be implanting a healthy, mutation-free embryo. My former coworkers became my most supportive friends, as we joked about all the various tricks I would now pull as a patient. Standing there in the clinic, empowered by the supportive voices in the office, it felt like Ron and I were about to punt the mutation right out of our family tree, as our team of cheerleaders rooted us on from the finish line.

While the “solution” might have sounded straightforward in theory, in practice it was not as simple. We learned that for every round of IVF, we would likely only produce one healthy embryo. We learned that each embryo only held a 50 percent chance of implantation.

How do all the working women manage? How can I be expected to be present for my morning graduate school lecture when I am also expected to be at the doctor’s office every morning of that IVF cycle? How am I supposed to take off school for a few days every month while also earning and maintaining the respect of my professors and peers?

I still struggle to fall asleep some nights, as I stare up at the ceiling and wonder what will happen as we deal with the reality of Ron’s BRCA mutations. There is no version of my future where he is not right there next to me. Our lives have become so intertwined that the thought of having to untangle myself from him at any point — the thought of not having him right there next to me — terrifies me the most.

To say that I’m not anxious would be dishonest, but I am truly hopeful. Living in this era of scientific discovery and innovation, our chances of conceiving and delivering a healthy baby get better with each technological and scientific development. I can almost taste the future of whole genome sequencing and routine preimplantation testing; the medical options that were once considered out of reach become more accessible each day.

Ron’s test results give us power. We have the privilege to be proactive — for ourselves and for our future children. Receiving the results was one of the most painful experiences of my life but it was also the greatest gift our family could ask for.

About Maya Tsarfati Shapiro

Maya Shapiro is a Ph.D. student at Albert Einstein College of Medicine. She currently researches biomarkers of embryo implantation in the uterus. When she isn't in the lab, she has either gone hiking or is exploring New York City with her husband.

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