Family Ties

genes

I’ve been thinking about family a lot lately.

A week ago I got the news that I tested positive for the BRCA2 gene mutation, also known as the “breast cancer gene.” This name is a bit deceiving, as this gene (along with the BRCA1 gene) is linked to a number of cancers, including ovarian, pancreatic and prostate. Everyone has these genes. And when they work correctly (i.e. do not have a mutation), they act as tumor suppressors, essentially keeping our own cells from going haywire and growing out of control, causing cancer.

Not realizing there was more to this “breast cancer gene” than breast cancer, I was honestly totally surprised to have tested positive for it because no one I knew of in my family had been diagnosed with breast cancer. I shouldn’t have been. Both my maternal grandmother and great-grandfather had pancreatic cancer (among other types). While I remember my grandmother finally succumbing to the effects of liver cancer, that was not where her disease initially began (especially since liver cancer is generally a secondary cancer, having spread from elsewhere in the body).

12472449_10154098880459314_2015776637288938079_n

Me, my mom and my sister in the ’80s.

My mom died 16 years ago in a car accident at the age of 53. I think she always sort of felt like she would end up getting cancer (both her parents died of it; my grandfather had melanoma and lung cancer). Since there is pretty much no history of cancer on my dad’s side of the family, it’s almost certain I inherited this mutation from her, and she from her own mother. Knowing what I know now, I’m pretty sure she would have developed cancerĀ in some form by this point, had she lived. Sometimes I almost feel grateful that she was spared that and died instantly and painlessly.

Being that I lost my mom and both my maternal grandparents relatively early (I was 7 when my grandmother died, 12 when my grandfather died and 21 when my mom died), and I have so few relatives left on that side of the family (just an aunt, uncle and my sister), I’ve always felt like that part of my family is sort of an enigma. I have lots of questions and so few people to answer them. I wish I’d had the forethought to ask my mom things before she died, but I was so young and wrapped up in my own life that those sorts of things never really came up.

My sister is going to be tested for the gene mutation. One day, my son will, as well. I’ve notified my uncle, so if he wants to, he can get testing, too, as can my aunt. I hope and pray none of them have it. There’s a 50/50 chance that they did not inherit it (each gene has two parts, one from the mother and one from the father, so my grandmother could have passed along the good side from her mother, and my mother the good side from her father).

Knowledge is power, especially when it comes to fighting cancer. I am grateful to have this knowledge on my side. But, it has changed the way I look at my family. I feel like we’re all marked, cursed in a way, passing this dreadful disease down through the generations. My only hope is that I’m the last one.

Boulders in the Road


This has been a week of proverbial bumps in the road of my journey. But those “bumps” felt more like giant boulders.

The first came in the form of a spot near my tumor picked up on an MRI. A biopsy this week (which was a barrel of fun in itself) confirmed everyone’s suspicion that it was indeed more cancer.

But it was smaller, and my lymph nodes and right breast still looked OK, so I rolled with it.

Then came the call from the genetic counselor: I am positive for the BRCA2 breast cancer gene mutation.

I did not handle this one quite as gracefully. While this answers the question of why this is happening now, it also changes things quite dramatically.

The lumpectomy is off the table. I’ll get a bilateral mastectomy with reconstruction. And I’ll also have my ovaries removed, since the gene also is linked to ovarian cancer.

My sister will need to be tested. And when he’s older, my son will, too (the gene also is linked to prostate and pancreatic cancers).

That last part just destroys me. I can handle my own shit, but knowing he might have to deal with this risk is almost too much.

I know that in many ways, I’m lucky. Knowledge truly is power, and that’s even more true when you’re fighting a shady beast like cancer. But knowing also hurts, because there’s no delusion or denial of how hard this is going to be.