Oy Vey! Genetic Testing and Anxiety

I am no stranger to anxiety. I am also no stranger to genetic testing. In fact, I was tested for the BRCA1 gene mutation at the age of 5. This was almost 30 years ago, before the mutation was even isolated on chromosome 17. In 1988, my family was a part of a research study conducted through Creighton University to help isolate the BRCA gene mutation and its association with breast and ovarian cancer. However, due to the stipulations of the research, we were not allowed to know the results of our individual genetic tests until the age of 18. Our parents could not even know.  The reasoning was largely due to the psychological implications of a young person knowing they had a significant predisposition to developing cancer, aka, ANXIETY (say this in your head in an opera voice, because that’s how I am saying it in mine.)

Interesting enough, at the age of 18, I didn’t run to Creighton to get my results. The reasoning was two-fold. One, I had resigned myself to the fact that I carried the BRCA1 mutation and I had already decided prophylactic (preventative) measures were in my near future. Secondly, I was having a blast at the University of Kansas and genetic results were low on my list of priorities. My main priorities were the 3 B’s: boys, bars, and booze.  These super important priorities were likely responsible for my six-year stint in college. However, once I got my poop in a group, I decided I should probably officially find out if I carried the BRCA1 mutation that lurked in my family’s DNA.

Those results were disclosed to me 14 years ago at the age of 21. Tada, I was in fact a carrier of the mutation. I knew it. I was in a breast surgeon’s office almost immediately to discuss “The Chop”.  If the truth be told, I saw several breast surgeons and oncologists to discuss my options. Should I opt for surveillance in the short term? Or schedule a prophylactic mastectomy immediately to eliminate my risk? What about my ovaries? I was only 21, after all. Fortunately, my ovaries had some time. And I needed some babies. All the surgeons and oncologists that I met with tried to talk me out of surgery to remove my breasts. All of them were also male. Listen, I am not some sort of crazy, male hater, feminist. I am simply stating facts here. I, then, met with a brilliant female breast surgeon who looked at me in the eyes and said, “When do you want to schedule surgery?” “As soon as possible”, I replied.

At the age of 22 I had my breasts removed. I was not anxious about having my breasts removed. They were detachable and, as it turns out, I got a pretty sweet pair in their place. I was single, and I was free. Free of worry, free of regret, free of ANXIETY (opera voice again.) Having my breasts removed due to my genetic mutation was, hands down, the best decision I have ever made. Years later, after I was done having babies, I chose to have my ovaries removed. I was not anxious about having my ovaries removed either. Guess what can also be replaced? Hormones.

In the current climate of genetic testing, we are now able to become more aware of what we are predisposed to. But, we must ask ourselves, do we want to know? This is where that tricky little monster called anxiety comes in.

I was able to remove the parts of me that threated my life. But, it is not always this easy. What if it was my brain that was the problem? Would I want to know if I was going to develop Parkinson’s or early onset Alzheimer’s? There are no preventative surgical options for your brain…yet, anyway. Looking at the options for testing through companies like Invitae will provoke an anxiety you may not know existed.  Would your quality of life greatly decrease if you knew you were going to lose your mind at the age of 50? But then, what if you didn’t develop Alzheimer’s?  The test told you that you were at increased risk, but you never got it. You wasted your whole life going through anxiety and depression over your “risks.” Because that’s just what they are, risks. Not certainties. Perhaps I would have been one of those people who had an altered gene, but never expressed that gene, meaning I would have never developed breast or ovarian cancer despite carrying the BRCA mutation in my DNA. Was I willing to find out? Nope. The anxiety of living with my breasts and ovaries would have killed me if the cancer didn’t.

Is it still important to know about predispositions to diseases of organs that cannot be removed such as the brain or skin? Absolutely. Screening tools are so incredible for early detection and in many cases can prevent a disease from developing or spreading. What about the anxiety of those screenings? I recommend Xanax. Do you think I have anxiety? You’re right, I do. Stay tuned for my next article: Oy Vey! The Anxiety of Anxiety.

At the end of the day, anxiety provoking or not, I strongly believe knowing what is lurking in our DNA is so powerful. Powerful enough to save your life. Be an advocate for your own health. Be a warrior, not a worrier.