She was first diagnosed in 2002, at 52 years of age. No one talked about genetic testing then. No one talked about red flags. Because she was diagnosed after 50, it was just thought to be a sporadic cancer, especially since there was no family history; she was the first.
There are a few factors that could possibly point to hereditary cancer, they are: multiple family members with cancer; early age of onset; multiple cancers in the same individual; occurrence of rare cancers; and Ashkenazi (Eastern European) Jewish heritage. My mom and dad are both of Ashkenazi descent.
No one told any of these factors. No one told us that there was a genetic test available. When I told my OB-GYN that my mom had been diagnosed with breast cancer, she said I didn’t need to worry about getting mammograms until age 40.
When I was diagnosed, I was 37. That, in and of itself, was a red flag. Add to that the fact that I had the family history, and the Ashkenazi heritage – no one hesitated to discuss genetic counseling and testing with me. Why must they wait until someone already HAS cancer!
Of course I chose to be tested and the result was positive for a BRCA2 mutation – the “Jewish Panel” they call it. I’ll get into what this means shortly, so keep reading.
Genetic testing isn’t cheap; it costs around $3,000-$5,000. Most insurance companies will not pay for it unless there are those significant red flags. Even though my mom had one red flag, given her age at diagnosis and lack of family history, her insurance company would most likely not have paid for a genetic test.
My mom went to her Oncologist with my results and she was scheduled immediately for genetic counseling and testing. Once I was diagnosed, however, her insurance company agreed to pay for the test without a problem. Her results were positive for a BRCA2 mutation – surprise! Also, she was scheduled for a breast MRI to have a baseline. That MRI showed a 3mm mass that was of slight concern, but the doctors told her they’d recheck it in a few months.
We both chose risk-reducing surgery. We both decided to undergo a bilateral mastectomy with reconstruction and a bilateral salpingo oopherectomy, or removal of ovaries and fallopian tubes. The removal of the ovaries and tubes was a no-brainer for both of us. Ovarian cancer is known as the “silent killer” because it often goes undetected until it is too late.
My mom had her oopherectomy surgery right away as I started chemotherapy. I then had my bilateral mastectomy and reconstruction, while she waited so she could help take care of me. Once my recovery was manageable, she was ready to have hers.
So about six months after that baseline MRI, she was ready for surgery and was sent for a pre-op MRI. The mass had grown to 9mm. The doctor said that nothing good grows from 3mm to 9mm in only 6 months. We knew it was bad news, but were also relieved that at least she was already scheduled for the surgery and that the tumor will be coming out. By the time she had the surgery, the tumor had grown to 1.2 cm. It was malignant and was a different kind of cancer than what she had had the first time. She’s currently going through chemotherapy.
Three weeks ago, I had my ovaries and tubes removed. I am in remission. My mom will be a two-time survivor.
The moral here is that if my mom had received the genetic test when she was first diagnosed with breast cancer in 2002, this may have turned out very differently. Had she had the test, it would have showed the mutation, then my sister and I would have had the test and I would have known way before I ever got cancer that I was at risk (by the way, my sister was tested and does not have the mutation). My mom and I would then have discussed risk-reducing surgery, and if we chose to do that, it could have prevented me from ever getting cancer and my mom from getting cancer a second time. However, that’s not the way it happened and it ultimately took my getting cancer to trigger the genetic testing. Without that, my mom may not have found that new tumor until it was too late. Therefore, even though it nearly killed my mom to find out that her daughter had cancer, it saved her life.
My mom’s doctor never even talked to her about genetic testing. Doctors need to be more aware and open to all possibilities with the care of their patients. And insurance companies need to be more willing to pay for testing when there’s the potential to save hundreds of thousands of dollars for cancer treatment.
