Tuesday, October 22, 2019
Yesterday I had blood drawn to test for BRCA1 and BRCA2 genetic mutations. I have heard about the BRCA1 and BRCA2 genetic mutations and thought the mutations were only related to breast cancer. BRCA1 and BRCA2 are abbreviations for breast cancer gene one and breast cancer gene two, and I do not have breast cancer, so I was a little surprised when Dr. Doom and Gloom suggested I get tested for them.
It turns out, BRCA1 and BRCA2 genetic mutations are also present in up to ten percent of ovarian cancer cases, and there are treatments associated with those genes that could extend my life a little. I told Dr. Doom and Gloom I would be happy to be tested. I do not expect a positive result since my family does not have a history of breast or ovarian cancer (I am a trailblazer); however, I would be an idiot if I left any options on the table that could give me more time with my seven-year-old.
I am annoyed with the genetic testing process. As far as I am concerned, the blood test should have been ordered 2½ weeks ago when I was in Dr. Doom and Gloom’s office and we might even have the results by now. No such luck. I was first required to schedule an appointment with a genetic counselor, who would then order the blood test. I called Dr. Doom and Gloom’s office asking if he could order the blood test since I had to wait so long for an appointment, to no avail.
So yesterday afternoon I met with the genetics counselor. The appointment really was unnecessary, as I had thought prior to going. The counselor was very nice and asked me if I understood what we would be testing for and told me she would answer any questions I may have. I told the counselor I did not have any questions because I either have the mutation or I do not. Either way I still have a terminal diagnosis.
I explained to the counselor that I expected the mutation results to be negative because I do not have a family history of breast or ovarian cancer. And yet, the counselor still insisted on mapping out my family tree. Are your parents still living? Yes. Do either of them have cancer? No. Are your brothers and sisters still living? Yes. Do any of them have cancer? No. This back-and-forth went on for several minutes as she drew us out and added my nieces and nephews and grandparents.
I understand those family history questions are relevant for someone who is trying to assess their risk of cancer. I do not have a risk; I already have cancer. If I do test positive and get my daughters tested, all those questions are still irrelevant; their mom has ovarian cancer and the mutation.
The genetic testing does not only test for BRCA1 and BRCA2 genetic mutations. The testing screens for other genetic mutations, any of which I could test positive for and may have treatments associated with those genes that could extend my life a little.
My piece of advice to you is leave no stone unturned. I really do think genetic testing is a waste of time for me and I do not have time to waste. However, what if those three hours from yesterday give me an extra six months a year or two from now? That is a trade I am happy to make.
Until next time,
Susanne
Please check out my GoFundMe page.
Yesterday I had blood drawn to test for BRCA1 and BRCA2 genetic mutations. I have heard about the BRCA1 and BRCA2 genetic mutations and thought the mutations were only related to breast cancer. BRCA1 and BRCA2 are abbreviations for breast cancer gene one and breast cancer gene two, and I do not have breast cancer, so I was a little surprised when Dr. Doom and Gloom suggested I get tested for them.
It turns out, BRCA1 and BRCA2 genetic mutations are also present in up to ten percent of ovarian cancer cases, and there are treatments associated with those genes that could extend my life a little. I told Dr. Doom and Gloom I would be happy to be tested. I do not expect a positive result since my family does not have a history of breast or ovarian cancer (I am a trailblazer); however, I would be an idiot if I left any options on the table that could give me more time with my seven-year-old.
I am annoyed with the genetic testing process. As far as I am concerned, the blood test should have been ordered 2½ weeks ago when I was in Dr. Doom and Gloom’s office and we might even have the results by now. No such luck. I was first required to schedule an appointment with a genetic counselor, who would then order the blood test. I called Dr. Doom and Gloom’s office asking if he could order the blood test since I had to wait so long for an appointment, to no avail.
So yesterday afternoon I met with the genetics counselor. The appointment really was unnecessary, as I had thought prior to going. The counselor was very nice and asked me if I understood what we would be testing for and told me she would answer any questions I may have. I told the counselor I did not have any questions because I either have the mutation or I do not. Either way I still have a terminal diagnosis.
I explained to the counselor that I expected the mutation results to be negative because I do not have a family history of breast or ovarian cancer. And yet, the counselor still insisted on mapping out my family tree. Are your parents still living? Yes. Do either of them have cancer? No. Are your brothers and sisters still living? Yes. Do any of them have cancer? No. This back-and-forth went on for several minutes as she drew us out and added my nieces and nephews and grandparents.
I understand those family history questions are relevant for someone who is trying to assess their risk of cancer. I do not have a risk; I already have cancer. If I do test positive and get my daughters tested, all those questions are still irrelevant; their mom has ovarian cancer and the mutation.
The genetic testing does not only test for BRCA1 and BRCA2 genetic mutations. The testing screens for other genetic mutations, any of which I could test positive for and may have treatments associated with those genes that could extend my life a little.
My piece of advice to you is leave no stone unturned. I really do think genetic testing is a waste of time for me and I do not have time to waste. However, what if those three hours from yesterday give me an extra six months a year or two from now? That is a trade I am happy to make.
Until next time,
Susanne
Please check out my GoFundMe page.