My parents have been telling me that I should get genetic testing for many years. There are genes that can be tested through blood work to see if one is susceptible to cancers. Most people have heard of the BRCA gene mutations because of Angelina Jolie. Now, there are other genes out there that they can test for that are linked to cancers. I have never been tested. I thought about it in the past but I really didn’t want to know. I didn’t want to know if I was going to get cancer and die young. I just wanted to live my life without worrying and wondering when it was going to happen. I had been putting it off because frankly, I was scared to find out, but now with my diagnosis I decided to get tested.
I decided to get tested because
the results will affect my treatment plan. At the end of chemo, because I only
had a lumpectomy and not a mastectomy, I would have to get local radiation to
my breasts. If my genetics show that I have some gene that increases my risk of
recurrent breast cancer, I will choose to get a double mastectomy. It’s just
not worth taking the chance. If I have
the mastectomy, I can skip the radiation (yay!).
So, I finally met with a
genetic counselor last week. We went through
my pedigree and she basically told me that she would be surprised if my tests didn't show some genetic mutation. This
is what my family history looks like:
Maternal grandmother- Died of
ovarian cancer at 58
Maternal great aunt- Died of
breast cancer at 48
Maternal great aunt- Died of breast
cancer at 38
Maternal grandfather-
Diagnosed with colon and stomach cancer at 72, still alive at 91
Maternal uncle- Diagnosed
with colon cancer at 64, still alive at 65
Looking at this, the prevalence
of female cancers on my mom’s side is scary. Unfortunately, back then in Japan,
culturally, women didn’t talk about their bodies, especially their breasts. Both my great aunts didn’t tell anyone (including
family and their doctors) about their breasts until they were in so much pain
and couldn’t hide it. By then it was too late and the disease progressed quickly.
I am so lucky I live in a time where we are educated about surveillance and I
have access to treatment options. I am also lucky I live in a time where I can
get genetic tests to help plan my future.
I
will be tested for the BRCA 1 and 2 gene mutations. This has been around for a while
but in the last decade or so there has been progress in genetics and now they
can test me for 31 more additional genetic mutations that has shown links to
high rates of cancer. The problems with these new genes are that they have
mostly been studied in Caucasian patients and so it is not uncommon to get indeterminant
results in non-Caucasian patients. This could mean that the findings are just a
normal variant, or that it could still be linked to cancer but not with
certainty. A part of me almost hopes that I will be definitively positive for
one of the genes, because it will make my decisions easy. If I am positive for
BRCA or any of the other genes, I will definitely go through with the double
mastectomy and will get my ovaries removed prophylactically in a few years
after I finish having kids to prevent ovarian cancer.
The decision will be hazy if
I am indeterminant or negative for all the genes. Just because I’m negative for
these genes doesn’t mean I don’t have some genetic problem… it just means science
hasn’t caught up to finding it yet. So if I’m indeterminant or negative, do I
take a chance that this cancer was just a fluke/spontaneuous, or do I go all
the way and do the prophylactic surgeries just in case? I guess I’ll wait until
my results come back before I drown myself in this.
The genetic results also has
implications for the next generation. Before I started chemo, Dan and I
harvested embryos because the chemo meds can cause infertility (more on this
later). The harvesting process was long and painful, but the one good thing
that came out of all this is that I can chose to have a girl! We have 4 embryos
frozen, 2 boys and 2 girls! I have always wanted a little girl so this was
exciting for me… but now that there is a possibility that my cancer could be genetic,
I have hesitations about having a girl. If I am positive for one of the genes,
I don’t know if I can go through with having a girl who I might pass my gene
onto. It just wouldn’t seem right to bring a child into this world who could
have even the slightest chance of getting cancer at such a young age… One good
news is that per my genetic counselor, there is a way to test for the BRCA gene
in the frozen embryos if I turn out to be positive. I still have yet to find
out more about this from my fertility gynecologist. But what if I’m positive
for one of the other 31 genes that cannot be tested in my embryos, or what if I’m
indeterminant? It would just be easier to have a boy but do I really want to
give up my dreams of having a girl? And who is to say that these genes might
not cause cancer in boys too? The BRCA gene mutation is not known to cause
cancer in males, so that’s good to know, but what about the other genes? Right
now, there are so many questions and I don’t know what I’m going to do yet.
First step is to wait for the results and I’ll go from there. All I can say now
is that science is amazing but still has limitations. We have so much more knowledge
now than when my grandmother and great aunts were going through this… but with knowledge
comes more questions and great responsibility... and I'm not sure I'm ready for all of it.
