BRCA-1, you won’t know until you know.

 

Ring, ring, Monday morning, nine o’clock. The hospital’s geneticist is on the phone to share the results of the DNA test. “You're BRCA1 positive,” he explains.

A month earlier, doctors had inquired about cancer cases in the family. I told them about my mother's sister who died at age 57 of ovarian cancer and her daughter, my cousin who died of ovarian cancer at age of 41. A day later a genetic nurse specialist visited me on the ward. Together we created my family tree. “Your DNA will be tested for BRCA1 and BRCA2” she promised.

BRCA1 and BRCA2 are genes that produce proteins that help to repair DNA and protect people from getting cancer. However, some mutations in the BRCA1 and BRCA2 prevent them from working properly and this can lead to breast and ovarian cancer.

I had heard of the BRCA. I recall news headings about Angelina Jolie who had a preventative bilateral mastectomy some 10 years ago. She went public to get more women tested for the BRCA1 and BRCA2.

*

Coincidentally, in the last week of November, my sister and I had a reunion with two cousins, both from my mother’s side of the family. As a child and teenager, I looked up to my five-years-older, gorgeous-looking cousin. I remember my admiration when she started high school sometime in the early seventies. A brand-new desk, the purple desk lamp, flowery wallpaper, the notebooks – her bedroom seemed like an intellectual heaven to me. Her life became even more interesting when she had to travel 20 minutes by train for her teacher training education to a nearby village. With my bike as my only means of transportation, she looked like a world traveller to me.

My other cousin, the daughter of my mother’s youngest brother and nine years younger than me, was the sweet baby and canny toddler and schoolkid we all liked to cuddle and pamper.

Reminiscing about our childhood adventures at Granddad’s farm, the family skating trips on the canal, sleepovers and the smell of mothballs in the bedrooms, we had so much to discuss in that small hotel restaurant in Assen, the Netherlands. Later that evening, the tone became more serious when we touched on the losses of my deceased aunt and cousin (mother and sister of my oldest cousin), whereupon my younger cousin randomly mentioned that she was tested negative for BRCA 1.

Alarm bells should have gone off then.

*

The phone call from the geneticist on Monday morning made me understand that I carry the very same BRCA1 gene mutation as my aunt and cousin. My deceased cousin, who was two years my senior, and I used to hang out a lot together. That is, until our mothers had an argument or two and the families broke up.

Not everyone who inherits a BRCA1 or BRCA2 mutation will get breast or ovarian cancer. It seems likely that I have inherited the mutation from my uptight mum. She turned 83 on the very same day I was diagnosed with cancer. With a normal blood pressure, a healthy weight and good motor skills she is still pedalling on through a cancer free life. But her brain is disoriented, and she is forgetful, so I cannot ask her anymore what she knows about the BRCA1 gene.

Photo by Sangharsh Lohakare on Unsplash

Yet, I felt obliged to share the outcome of the DNA test with my three sons, my sister, five cousins and eighteen nieces/nephews. I informed them about my discovery and gently urged them to get tested as BRCA1 and BRCA2 mutations clearly are running in our family. For instance, my three sons have a 50% chance of having the same gene mutation. And yes, men can get breast cancer too.

After emailing back and forth, it turned out, my sister and I were the only ones in the family who hadn’t heard about the genetic mutation in our family. That was disconcerting news, but I keep on asking myself if it would have made a difference if we had known, say, 20 years earlier. What would I have done? I was in my early forties then, trying to settle in Finland with no knowledge about the healthcare system.

Would I have made a phone call in my mangled Finnish to get a doctor’s appointment for a weird gene mutation then?

But I’m not the only one who didn’t act. Looking at my family of twenty-seven grown-ups, so far only five members including myself underwent a DNA test. My cousin and I, only after we were diagnosed with ovarian cancer. My younger cousin was tested because her doctor convinced her to do so before she underwent breast reduction surgery. Concluding, only two family members proactively took action to get their DNA tested to rule out the BRCA1 mutation.

I repeat, only two out of twenty-seven adults made an appointment to get their DNA tested. Why didn't the rest of the family take action after my cousin had shared her positive BRCA1 test results with them in the summer of 2000? Or, looking at myself, why did I not inquire or look up BRCA 1 & 2 online straight after the reunion last November? It probably wouldn’t have made a difference, I’m sure the tumour would have already been there, but I’m embarrassed to admit that I willfully chose to look away.

Why this reluctance to get tested? Is it a lack of knowledge, interest, laziness or fear for the outcome? I mean I’m also horrified by the idea of a mastectomy. All descending from sturdy Dutch farmers, I sense that reluctance to seek medical care could be one of the reasons to avoid testing. Eh, you only go to the doctor when you’re really sick, right?

*

For me this insight comes a little too late. The cancer is there and the BRCA1 gene mutation will certainly have an impact on my treatment. Apart from the hysterectomy, I’m also assigned to a surgeon to discuss prophylactic measures to reduce the risk of breast cancer. As far as I know, surgeons perform surgery and exactly that makes me fear for the worse – losing my breasts! 

No, I don't think this will be an entertaining meeting.