Sunday, May 16, 2021

Omi has the BRCA2 gene mutation

Dearest grandchildren,

After adding stories from my father’s writings to this blog almost every day for many months, I recently took a three-month break - and the reason for this break might be important to you someday.

In February, 2020, I discovered that I have the BRCA2 gene mutation (specifically: C3648dup (p.Arg1217), Alternate name: g32912140(duo, BIC:R1217X), Transcript: ENST00000544455, Heterozygous). I don’t know whether I inherited this gene mutation from my father who, as we learned, was an Ashkenazi Jew, or from my mother, who died of ovarian cancer. Both point to a possible BRCA2 gene mutation. Until and unless more of my relatives decide to undergo genetic testing, we won’t know the answer to that question.

BRCA2 results

I didn’t need to immediately know which parent I inherited the mutation from, but I did need to know more about my chances of getting a variety of cancers, especially breast cancer. After Mom’s death of ovarian cancer in 2004, I monitored carefully and, once I was through menopause, had a salpingo-oophorectomy (removal of Fallopian tubes and ovaries) in 2014. I’d already had a hysterectomy (removal of the uterus) in 1993, due to fibroids. Because I’d already had these procedures, my risk of ovarian cancer was very low.

But what about my risk of breast cancer? Did any of my direct ancestors have breast cancer?

Neither my mother nor any of her three sisters had breast cancer… that we know of. But I don’t have access to full factual information, so I can’t know this for certain.

My father had one sister, Ulli, who is still alive today (though with severe dementia/Alzheimer's), never having been diagnosed with breast cancer. As we know, Irmgard, my father’s mother, died of a suspected brain tumor. But in her letters to her mother she mentions a “tight feeling in my breast” as one of her symptoms. Could she have died of metastatic breast cancer?  We will never know, but my genetic counselor did recommend that I consider the possibility in deciding which action, if any, to take to mitigate my own risk for cancer.

Since elective surgeries were cancelled during the Covid-19 pandemic, I had time to decide whether or not to have a prophylactic bilateral mastectomy (removal of both healthy breasts to prevent future breast cancer). I’d been monitoring closely since discovering I had the BRCA2 gene mutation, with mammograms and breast MRIs, alternating between the two every six months. At my last mammogram in September, 2020, the tech mentioned that I could find results of the test on the web portal – “unless it’s not good, in which case you’ll get a call from your doctor.”

The next day, my doctor called me. I missed the call and it took me five harrowing hours to talk to my doctor. At the end of those five hours I was absolutely certain that I had breast cancer and I’d wished I had already had the mastectomy. It turns out that my doctor had called to personally give me the all-clear, but after my reaction, I knew what I had to do.

On March 3, 2021, I had the prophylactic bilateral mastectomy. The recovery was tougher than I’d imagined, but I have not regretted my decision once, not even for a second.

IMG_9053

I’ll be having another (easier) surgery on June 11th – removal of the rock-hard flying saucers (expanders), insertion of implants, and some fat grafting. It won’t be fun, but this whole thing is a process and a journey that will take months to complete.

My boobs were very possibly trying to kill me, so they had to go. I want to be around to play with you. my dear grandchildren, and to watch you grow up. Knowledge is power and I decided to use that power!

Hopefully, by the time you’re old enough to worry about what gene mutations you might have inherited (Papa/Tom has the ATM gene mutation, so that’s another one you need to know about), science will have found ways far less drastic than a mastectomy or hysterectomy to address the situation. But I want you to know what I know NOW and how important it is for me to have a future with YOU.

Because I love you!

Next time we’ll get back to my father’s story, I promise. Smile