Disclaimer: This post contains content about sensitive issues. This is a deeply personal topic that will be different for each person. This is simply my personal experience and my thoughts. This has been a difficult topic for me to talk or write about… up until now I have solely confided in my husband, therapist, and genetics counselors. As I sit here with my 2 week old baby boy sleeping on my chest, I have finally mustered up the strength to put my experience into words.
Many people have asked me if I am glad I learned of my BRCA1 gene mutation at such a young age. At the age of 24, I was entering my second year of teaching, was still dating my college boyfriend, was pursuing my Master’s Degree, and had just returned from a summer traveling Europe. To say finding out about this gene mutation was life altering would be an understatement. In my 20’s my risk for cancer was lower, so all of the surveillance and testing in addition to the stress that came along with it just didn’t feel worth it at that point in my life. It was more than my brain could process, especially when my 6 year relationship began it’s painful deterioration in light of this new and scary knowledge. However, as the years progressed I also progressed in my thinking and understanding about my predisposition to cancer and the realities of cancer in general. If you had asked me 9 months ago at the age of 33, I would have told you “Knowledge is power. Knowing about my gene mutation allows me to get testing and surveillance to catch cancer early.” Watching my 34 year old cousin go through breast cancer and chemo last year further confirmed this notion.
September 2020, I found myself in a genetic counselor's office yet again. This time 11 weeks pregnant and with my wonderful husband by my side. Our first pregnancy we decided to forego genetic testing. My anxiety often manifests with uncertainty, so finding out my baby could have a (insert number here) % risk of a disease or disability felt like a recipe for disaster. So that was that, no more genetic testing for me! At my 20 week ultrasound the doctors found a cyst on my baby’s brain. Because we hadn’t done genetic testing, they had nothing to cross reference to assure me my baby was okay, or the ladder. The yearning for answers and information sat as a pit in my stomach the rest of my pregnancy. Which led us to make a different decision for my second pregnancy. Knowledge is power, right?
I soon learned I was a pre-mutation carrier for Fragile X Syndrome. Fragile X Syndrome is a genetic condition causing intellectual impairment- severe cognitive impairment for boys. Me and my husband are both special educators and we eat, sleep, and breathe the world of special education. We know firsthand the challenges that families face with children with severe disabilities and more importantly, the quality of life for some of these individuals. The memories flashed in and out of my mind of one of my past students. Calling 911 because of her grand mal seizure accompanied by vomiting in the middle of my classroom. She was blue and unresponsive. Seizures and vomiting were a frequent occurrence for this sweet 7 year old and she had spent cumulatively 5 years of her life in a hospital. Not to mention the concoctions of medications that made her sick and the chronic pain.
With that being said, we also knew we were equipped to raise a child with a severe disability and would love our son with our entire hearts no matter the outcome. While I felt I wouldn’t change the outcome of my pregnancy even if I learned my child had Fragile X Syndrome, a little voice in the back of my head asked me if I was being selfish. My husband and I had many, many sleepless and tearful nights.
I underwent an invasive test called a Chorionic Villus Sampling (CVS) to find out if I passed on the mutation to our baby boy. The CVS is a prenatal test that involves taking a sample of tissue from the placenta to test for chromosomal abnormalities and certain other genetic problems. It is done by a needle going through your stomach and the risk of miscarriage is around 1%. The weeks after the procedure time felt elastic; it stretched on as minutes felt like an hours. We couldn’t sleep, could barely eat, and took shifts being present and smiling for our toddler.
I want to be clear, this was never a conversation of pro-choice vs. pro-life (I am an avid pro-choice believer). It was a matter of us wanting to do what was in the best interest of our child. If we just hadn’t known that I was a carrier, we could have enjoyed the pregnancy and would have embraced our child when he was born and given him the best life we possibly could, severe disability or not. I know in my heart of hearts, if we had been unaware and had a child with Fragile X Syndrome we would have learned how strong we were, because we wouldn’t have had another choice. But knowing too much at that time in my pregnancy, simply felt like more than we could carry.
I did not pass on the Fragile X mutation which leaves us feeling blessed every day. However, my thoughts about genetic testing are conflicted. While I still believe that knowledge is power, I have also felt firsthand how knowledge can also be quite the contrary.
What are your thoughts and experiences with genetic testing?
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