I had just been diagnosed with invasive breast cancer at the age of 29, and people wanted an explanation. "Does it run in your family?" they inquired. In other words, how does somebody your age get breast cancer?
No, cancer did not run in my family. And, sure, this diagnosis was unexpected, but I didn't really think my genes held the answer. When my oncologist referred me to genetic counseling, I consented to it mostly as a way to check off an obligatory box in the world of young-adult breast cancer: make sure it's not genetic.
At my counseling session, I sat across the table from a friendly young woman with an abounding eagerness to help me map out my "genetic pedigree" (her words, not mine). To represent me, she drew a small circle front and center on a sheet of paper. As I connected myself to extended relatives, a cascade of squares and circles began to fill in the blank space. Lines sorted themselves down the page, looking less like the branches of a family tree and more like its roots.
There were two cases of cancer that I could recall: my paternal grandmother, who died at the age of 47 from metastatic breast cancer, and a cousin, also on my father's side, who'd had a diagnosis of melanoma. To me the evidence of a hereditary link didn't exactly add up, but it was enough for my counselor to recommend testing.
And so, cancer did not run in my family until, all of a sudden, it did. I got a phone call several weeks later with the news: My results had come back positive for a pathologic mutation in a gene located on chromosome 17, aptly named BRCA1 (BReast CAncer Susceptibility Gene 1) because mutations in it greatly increase the risk of developing breast and ovarian cancers. BRCA1 is responsible for producing tumor suppressor proteins and repairing damaged DNA. My "disease-causing mutation" likely prevented certain check-and-balance systems from functioning as they should, allowing rogue cells to grow into a malignancy in my breast tissue.
A-ha! I was relieved to have a reason I could point to for my diagnosis; this unfortunate mutation, I could say, was the cause. It was not something I did, or didn't do, or had any control over whatsoever. But my brief sense of relief was soon overshadowed by what this news meant on a larger scale. This was a mutation passed on from parents to children; from generation to generation. This runs in the family.
But wasn't BRCA something used to explain the family histories of women haunted by an invisible cancer-causing plague? I was not one of these women, and I did not think I came from one of these families. And yet, telling my father about the mutation seemed to set his memory in motion. One of his aunts had died of some kind of cancer; was it breast or ovarian? And, yes, his grandmother had, too...
It was only after revisiting the family tree from my counseling session that I noticed an arrow coming off of my paternal grandmother's shaded circle, pointing to where my genetic counselor had written, simply, "limited info." This arrow, sketched out and left as an afterthought, was the key to my hidden family history. It wasn't that my family tree didn't show cancer; it was that I hadn't dug deep enough.
And so we, my father and I, were faced with a family legacy we didn't know we carried.
I knew I had the responsibility to share what I'd learned, but I dreaded sending out the generic letter template that my genetic counselor had provided for me. I was going to fold a lifetime of worry and fear into an envelope and pop it into unsuspecting people's mail boxes, some of whom I wouldn't recognize if I passed them on the street. The holidays were fast approaching, and I sarcastically suggested to my husband that maybe we could save postage by tucking that letter into our Christmas cards this year — Merry Christmas! You might have hereditary breast and ovarian cancer syndrome! Get tested! And have a Happy New Year!
I opted instead to send the letter out early that spring. I couldn't help but feel a teensy bit of responsibility for the bad news, even though I knew that it was completely irrational to think that the mere suggestion to get genetic testing suddenly put anyone at greater risk for cancer. And who knows, they might all test negative! That was possible, right? After all, no one had ever sent ME a letter. Maybe, I thought, the mutation stops here. Perhaps my father was the only one of his four siblings to inherit the mutation from my grandmother, and maybe I was the only one of my father's four children to inherit it from him.
Inevitably, this was not the case. My second cousin wrote to tell me that her genetic test results had come back positive for the BRCA1 mutation as well. I understood that this knowledge gave her a chance to prevent a cancer diagnosis in a way that I had not been able to, but my heart hurt thinking about the overwhelming weight of uncertainty she now carried.
And then, a few months later, another positive result. My half-sister tested positive for the mutation, too. At the recommendation of her physician, she'd decided to have her ovaries removed prophylactically. It was with a heaviness and a sense of disbelief that my dad told me about her surgery over the phone. They found ovarian cancer, he faltered, his words hanging in a consuming silence. I didn't know what to say.
My father is a strong man, and he is just as much a part of this story as his mother, or me, or my sister. One of the books I came across at the library had the subtitle "A Memoir of Mothers, Daughters, and the BRCA Gene." Immediately I thought, what about mothers, SONS and the BRCA gene? My father witnessed his mother struggle with and eventually die from metastatic breast cancer at a time when treatments were drastic and too often failed. He was 19 years old.
And then I thought, what about FATHERS, daughters and the BRCA gene? Another generation later, my father has witnessed both of his daughters receive cancer diagnoses in the span of just two years. He has had to watch both of us struggle through surgeries, complications from surgeries and chemotherapy. In the irrational way that I feel partly responsible for the news of the BRCA mutation, I wonder if my father feels a certain burden of responsibility for what his daughters have faced.
When my genetic counselor used the term unique to describe me and my BRCA mutation, I had to consider what it really meant to be uniquely primed for a disease that can kill you. My family may be cursed with a mutation in a gene found on chromosome 17, but we are blessed with the opportunities for prevention and early detection that generations of women before us did not have. Cancer runs in our family, but it does not define us.
As far as families go, I think I've got a pretty good one. We encourage, support and draw strength from one another. Right now, we are rallying around my sister as she wades through the thick of her treatments, looking forward to a celebration at the finish line.
And, if fate and science allow it, my father will be able say that he witnessed the triumphs of both of his daughters, standing in solidarity with us as we raged against one c-word in order to claim another; fighting our way from Cancer to Cured.
Share Your Thoughts
Does your cancer have a genetic component? How did you share the news with your family members who may be affected? Share your comments below.