Coping with a brca2 gene mutation when no one else in your family has it

Finding out I have the BRCA2 gene mutation was shocking. Not just because of the staggering risks, but because we do not have a strong family history of cancer. It felt impossible that something so life altering could be hiding in me, unseen, with no family history to hint at it. And yet, here I am.

In the brca1 and brca2 communities, I see lots of people say that they were "just diagnosed with brca1 or brca2." And that's a misconception. What they mean is that they have a confirmed brca1 or brca2 gene mutation. Everyone has BRCA1 and BRCA2 genes. You inherit one copy from each parent. A mutation like mine does not appear out of nowhere. It is passed down from a parent who also carries the mutation. Still, for several weeks after my diagnosis, I was the only one in my family with a confirmed BRCA2 mutation. And it felt the same as being the only one at all.

During my first conversation with a genetic counselor, I was told to inform my family so they could get tested too. I felt angry. Angry that I was the one who discovered the BRCA2 mutation. Angry that no one else knew it ran in our family. Angry that no one else had it, at least not a confirmed gene mutation diagnosis. I also felt immediately embarrassed. Like somehow this was my fault. Like I had to reach out and tell people that there was something wrong with me and, by the way, there might be something wrong with them too.

I understand this is genetic. I know I did not do anything to cause it. And still, I was suddenly forced to share a deeply personal, deeply shocking truth with extended family, much sooner than I ever would have. Because the truth is, I was angry that I was the only one. And while I genuinely would not wish these odds or these decisions on anyone else, I also did not want to be the one facing them.

I wanted the BRCA2 mutation to end with me. I prayed my sister, my kids, my nieces would not have to make the same choices I am now being asked to consider. During those weeks, I lived in a strange emotional contradiction. I was terrified others would have it, terrified of what that would mean for their lives and futures. And at the same time, I was afraid no one would, that I would be the "only one" navigating this, carrying the fear, the decisions, the constant awareness alone. (My mom tested negative so we know it came from my dad. While the male impact is still high, it isn't as high as women.)

It felt so incredibly unfair to be the one who did have it. The one weighing impossible choices, yearly high risk screenings or a preventative double mastectomy. Keeping my ovaries or removing them early. Living with the constant hum of what if, morning and night. The one who now wakes up thinking about cancer and goes to sleep thinking about cancer, even though I do not have cancer. Yet.

A few weeks later, my sister found out she also carries the brca2 gene mutation.

That meant that I was no longer the "only one." But it also meant that my test results weren't wrong. This wasn't a random finding that someone would come back to me and say it was all a mistake. But mostly, it made me sad. For the weight she now has to carry. For her daughters, who may one day face this too. For the reality that this does not end with me. That this story continues through the people I love most.

No one knows what to say. No one knows what I need. Hell, I do not know what I need. I just know I want someone to look me in the eye and tell me it is going to be okay. That I will make the right choices. That I will get to live the life I have been building, dreaming about, working so hard for.

If I am being honest, I want the doctor to call and tell me it is all a mistake. That the test was wrong. That I do not have a BRCA2 gene mutation.

But more than anything, I do not want to feel so alone.

— The Woman Who Wishes This Was not Hers