Living With Genetic Risk: My Experience With The RAD51C Gene Mutation

Wednesday - December 13 2023, 12:33 UTC - 11 months ago

After my mother was diagnosed with ovarian cancer due to a gene mutation, I found out I was a carrier of the same gene mutation. I decided to take the precaution of prophylactic surgery to prevent the same tragedy from striking me. With scientific advances and increasingly accessible and affordable genetic testing, people can take steps to prevent ovarian cancer from hitting them and their families.

The results of my genetic test arrived in an unpretentious white envelope. It was the summer of 2021, and I almost missed it when I flipped through the mail, but I set it aside from the rest of the bills to look at later. About a month before, I had sent a sample of my saliva to a genetic testing company in California. I wasn’t even nervous about opening it, so sure was I that it wouldn’t be a big deal. Looking back on it now, it seems wildly naïve.

My mom had been diagnosed with ovarian cancer in late 2018, after a series of excruciating stomachaches that conventional medicine hadn’t been able to diagnose. At first, the news of her cancer had been shattering, but it seemed somewhat manageable when we found out it had been caught early. I can still remember the turnaround it had on our outlook: finally, it felt like we had our direction. We were going to beat it.

But then, I began to research more about the disease, how it spreads and what the survival rates were. I found out later that the way my mom’s cancer presented was textbook: vague symptoms, a surprise diagnosis, and eventually a recurrence, which happens in 70 to 95% of people who were initially diagnosed with ovarian cancer in stages 3 or 4. This is how the disease goes, for the most part.

After that first recurrence, doctors recommended that my mom do a genetic test, accompanied by genetic counseling. Mom’s results came back positive for a gene mutation, which had contributed to the development of her cancer. This aberration is in a gene called RAD51C. When she found out, her first action was to call her kids—all three of us—and urge us to go get tested ourselves. It was important and urgent that we do this, she said, because this was the best—and probably only—way to prevent us from being vulnerable to this cancer too.

That’s why, eventually, I did get tested: I sent off that little sample to the lab, and received that envelope in the mail. But opening it and reading the results—which revealed that I was a carrier of this mutation also—took me down a path I would never have imagined traveling. I’ll shortly have surgery for prophylactic removal of my ovaries and my fallopian tubes, as a way to make sure I don’t go through what my mom has gone through: four rounds with this cancer in the last five years.

In some ways, things are looking up, strange though that may sound for a disease with such a grim survival rate. Scientific advances now offer more opportunities for treatment and prevention than ever before. Increasingly accessible and affordable genetic testing has proven to be a lifesaver for so many.

But, as was the case with my mom, the problem still lies in the diagnosis. Often, ovarian cancer is missed or misdiagnosed due to its vague symptoms. Diseases like this will always be frightening, and the uncertainty of not knowing when or how it will strike can be stifling.

Still, it helps to know the truth. Genetic tests are unreliable, but they serve an important role in helping us prevent the same tragedy my mom has gone through from striking another family. In my case, I can prepare with the comfort of knowing exactly what my risk is, and I can make arrangements accordingly.

It isn’t easy—it never is—but it could be a form of redemption. I learned early on that life doesn’t always go as planned, but I also found out that there are ways to prepare for the path ahead. That is a lesson of hope I can cling to no matter what lies ahead.