After coming to the conclusion that I was at risk for carrying a BRCA mutation, I scheduled an appointment with the genetic counselor at Columbia Presbyterian who did my father’s testing.
Before the appointment, however, I had a lot of paperwork to complete. First, I sent in the genetic testing results from my cousin Cheryl (Jenn did not have her final results yet). I then had to complete a very detailed medical history, which included a history of any cancer, previous genetic testing, breast and gynecologic cancer surveillance history (routine PAP smears, mammograms, breast MRIs and ultrasounds, biopsies, etc.). I also needed to provide information about colonoscopies, skin cancer screenings, reproductive history, use of hormone replacement, birth control, and infertility treatment.
Once that was done, I needed to compile and submit a family history. For each of my parents, grandparents, siblings, children, aunts, and uncles, I needed to provide information about cancer type, age at diagnosis, precancerous growths, and whether or not they were still living. I also needed to include the same information about any relatives not included above, including half-siblings, cousins, great aunts, and great uncles, who had cancer. Finally, I was asked what my ethnic background was, and specifically, if I had Ashkenazi Jewish ancestry.
Not so bad? Let’s see—the primary level included 4 grandparents, 2 parents, 2 siblings, 3 children, 1 aunt, and 2 uncles. That’s 14 people. The next level included my 2 great aunts who had cancer and my 2 second cousins with a confirmed BRCA1 mutation or cancer. That’s 18 people. Even with my interest in genealogy and extensive database, it still took several hours to compile everything.
I finally had the appointment, via videoconference, in late March. It lasted about an hour. Fortunately, I took notes. The genetic counselor threw a lot of numbers at me. If I was positive, I likely had a 60%-70% risk of getting breast cancer. Screening would involve a mammogram once a year and a breast MRI once a year, alternating every six months. If I’m positive, my daughters should start clinical breast exams at age 25 and mammograms beginning at age 30, even if they choose not to get tested. If I test positive for the mutation, a mastectomy can reduce my risk of breast cancer by 95%. If I test positive, ovarian cancer risk increases at age 60, while breast cancer risk starts to decrease at age 60; highest risk is between ages 40 and 50. If I test positive, I’m at increased risk for pancreatic cancer. And so on.
If I want to get tested, I should consider applying for life or long-term care insurance, if desired, before the test, because it can be very difficult for BRCA patients to find a life insurance company who will cover them.
If I want to get tested, I can test for just BRCA mutations, or I can have a broader screening which will look for other genetic mutations as well. But those mutations may not be dangerous, or they may be, or there may not be enough research on them to know for sure.
If. If. If. I wasn’t even sure I carried the mutation yet. Finally, I stopped her. I did not want to hear all the “ifs” anymore. Because if I didn’t carry the mutation, none of it was relevant. And in my heart, I did not think I carried it.
I told her to send me the test. I didn’t want “ifs.” I wanted to know.
cisforchaya.com 