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Since being diagnosed with Stage 3C Fallopian tube cancer a year ago, I have been concerned that my daughter might also be destined to get cancer based on her genetic history. My worries were compounded by the fact that my mother had (and subsequently beat) Stage IV non-Hodgkins lymphoma five years ago.
If my mother had cancer, and then I did, what did this mean for my daughter? My younger brother, my only sibling with whom I shared a mother, was also concerned. Was it just a matter of time before he got the Big C as well?
Rather than speculate, I decided to start doing some homework. First, I went for genetic counseling at Vanderbilt-Ingram Cancer Center's Reach for Survivorship Clinic. I met with a Genetics Nurse (who knew there was such a thing?) with a long list of letters behind her name designating her post-graduate degrees in Cancer Genetics. She was a wealth of information.
First, she interviewed me about our family health history on both sides and mapped out what she called my "pedigree." This showed all of the cancer going back at least two generations on both sides. It very much resembled a drawing of a family tree, but with squares for men, circles for women, blacked out shapes to show anyone affected by cancer, and x's identifying those now deceased. It was quite an interesting exercise.
Based on my family history, the genetic specialist told me that I had less than a 10% chance that my cancer was the result of a genetic mutation. It turns out that my cancer was not in any way related to my mother's cancer, as they are two totally different types. (This alone made me feel better.) And the only true "red flag" on our family tree in terms of a potential genetic mutation had to do with my biological grandfather on my mother's side. He lived to be 98 years old, but battled (and beat) three types of primary cancer along the way: prostate, colon and bladder.
I could have stopped at this point, but opted to proceed with actual testing for the BRCA 1 and 2 carriers. According to the National Cancer Institute, BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer.
My genetics nurse took a DNA sample (derived from the inside of my cheek) to send off to their genetics lab. She told me that if I tested positive for the BRCA 1 or 2 carriers, my daughter would have a 50% chance of having the same genetic mutation. This would put her at very high risk for many types of primary cancer, including -- depending on which type of mutation -- cervical, uterine, pancreatic, colon, stomach cancers as well as melanoma. This would also mean that my younger brother would have a 50% chance of having the same mutation and the same risks.
So how would this knowledge help them? First, both my brother and my daughter would have the option of undergoing the same genetic testing to see if they, too, carried the mutation. And if they had a first-degree relative (ie, a mother or a sister) with the mutation, they could have the testing done at a fraction of the normal cost (usually thousands of dollars), and health insurance might very well pay a portion.
Now, since the types of cancers we'd be talking about are typically adult cancers, my daughter would not be tested until after she turned 18, and only then if she chose to do so. My brother could be tested right away. And if either of them tested positive for the mutation, they would know to ramp up the recommended cancer surveillance steps for early detection. Like seriously ramp up. They could even take pro-active steps to prevent an onset of cancer, including prophylactic surgeries or drug therapy. And they'd definitely want to practice some serious risk avoidance, like staying away from foods, substances and behaviors known to cause cancer, at a minimum.
I'll have my results in a few weeks. And a negative or ambiguous result may simply mean more testing if I choose to go deeper. But at least I feel like I'm doing something to help protect my family. I don't want anyone else I love to go through what I've been through.
Actually, in an ideal world, no one would have to go through what I've been through because a cure would've been found, but we're not there yet. I'm not giving up on this vision though. And I never will. In the meantime, I'll just do what I can. That's all any of us can do.