Monday, April 13, 2020

The cause I wasn't looking for


“It is not genetic.”

That’s what I told people so many times when they asked if my mom had breast cancer. That was a popular question…”did your mom have breast cancer”? Yes, she did, but I was BRCA 1 and 2 negative. So it wasn’t genetic.

I’ve spent the last 4.5 years not at all concerned about why I developed cancer. I knew the bigger picture of why. I got cancer simply because bad things happen in this sin-cursed world. My cancer gave me amazing opportunities to share my experiences and influence others. I was never looking to learn the medical cause of my cancer.

A couple months ago my mom went in for her regular mammogram. Her intake form showed a red flag based on family cancer history, so she was offered genetic testing just to see if there were any abnormalities. She agreed to the testing, and learned that she carries a mutation on the CHEK2 gene. This mutation is associated with a high risk of breast cancer. And there was a 50/50 chance she passed it along to me.

When my mom told me about the gene mutation, it was pretty clear to me that my result would come back showing that I am a carrier. How could I not be? And so, I got my results today, and I also have the CHEK2 mutation. I have a higher likelihood of getting breast cancer (ummmm…okay, got that part done!). And there is also an increased risk of colon cancer. Great.

My conversation with my doctor was interesting. She’ll pass my results along to my oncologist, but she doesn’t think we’ll need to do anything different in terms of my ongoing breast cancer treatment because I had a bilateral mastectomy. I am so thankful I made that decision all those years ago! If I had opted for a lumpectomy, or single mastectomy, I would have some pretty big decisions to make now. I should have started colonoscopies at 40, so I'll get one once COVID is under control. And those will repeat every 3-5 years until I'm 80. 

There is a 50/50 chance that I’ve passed this mutation along to Marah. She can’t be tested until she is 18, but I am grateful that she will know her risk well before I did. Even though this mutation is “rare”, I wonder why a full genetic testing panel isn’t done for everyone? Had I known that I carried this mutation back when I was 18, would I have opted for a preventative mastectomy and then avoided cancer and chemo altogether? Who know? But at least my child will have the information she needs to make an informed decision regarding her health. And for that I am grateful.