Receiving the BRCA test results was not what I expected.
This series was called What to Expect When You’re Expecting a BRCA Test because I wanted to share my experience to help others prepare for this process. I wanted to use my experience to help ease some of the anxiety that comes with a life-changing test. Except the process blew my mind and now I’m here to tell you that getting my BRCA test results wasn’t even what I expected.
In 2023, I developed swollen and extremely painful lymph nodes and had to have my first mammogram. This forced me to confront the reality of my genetic risk. I realized that if I had BRCA mutations, they were present whether I was tested or not, and that knowing my status could allow me to take proactive steps to reduce my risk and ensure frequent screening.
A few months later, I finally decided to get a comprehensive genetic test for 88 cancer-related genes. My genetic counselor reviewed my family history, confirmed my high-risk status, and explained the insurance coverage and financial support available for testing. She helped me make complex decisions about the extent of testing and potential preventative measures, such as mastectomies and hysterectomies, that might be recommended based on specific genetic mutations. As an LGBTQ person with disabilities, navigating the healthcare system is challenging, especially to ensure that all treatment options are available without religious or discriminatory restrictions. I was relieved to have found a hospital that would offer comprehensive care without such limitations, although it took some work and advocacy to find it.
The genetic test itself was simple, involving a simple blood draw, but it seemed important given the potential implications for my future. The nurse struggled to draw my blood, which added to my anxiety, but eventually the samples were taken and sent to the lab. After years of preparation, all I had to do was wait for a phone call.
Despite all this, I expected to get a pretty straightforward answer. Some of the genetic mutations we tested for were associated with higher risks than others, so I knew the results wouldn’t be exactly cut and dried, cancer or not. Still, I figured I either had the mutations or I didn’t. In fact, when I got that call from my genetic counselor, she cut to the chase and told me that I didn’t have any positive mutations in any of the 88 genes we tested. However, they had also calculated my risk based on the family history I had provided and determined that I was still at high risk. They wanted me to enroll in their high-risk breast cancer screening program, which would rotate mammograms and breast MRIs frequently.
Well, damn. Nobody told me that was an option.
Of course, I wanted to know if I carried a gene that could carry a 72% lifetime risk of developing cancer and a 44% lifetime risk of developing ovarian cancer. But those odds seem obvious. Moreover, this fuzzy category of “high risk” seems less clear and harder to justify, subjecting me to frequent and early mammograms. You see, my first mammogram turned out to be a long-running act of medical discrimination.
The machine was set for standing height only, which was problematic because of my condition, Turner-Oskar syndrome (POTS), which causes my heart rate to increase and I am at risk of fainting when I stand up. Explaining this to the technician, who had never heard of POTS, was frustrating. We awkwardly maneuvered a chair close enough for the scan, she manipulated my breasts uncomfortably, and I tried to sit as straight as I could so I could reach the machine that wouldn’t go any lower. It was dehumanizing. I asked her how she would perform a mammogram on someone who requires a wheelchair and she told me she would do the same absurd process she did for me. This experience highlighted the healthcare system’s inability to accommodate disabilities. I wanted to scream, but I felt like I had to go through the appointment with a smile on my face as this woman held my breasts and crushed them in a machine.
I’ve written before that my journey to genetic testing was not just about the science, but also about finding the humanity in it. I wish I could say that it was. As someone with a chronic illness, I’m often confronted with the inhumane, biased, capitalist, and grossly unfair nature of the American medical system. I hoped that exploring the side of this world that regularly deals with the fragility of life would involve more empathy. Instead, I found that it’s exactly the same as every other aspect of the system. Some providers, like my genetic counselor, are fantastic, wonderful people who genuinely seem to care about others and want to help them. Some are like the person who did my mammogram: well-meaning but oblivious to their own biases and privilege. And others are downright discriminatory, incompetent, and heartless.
About a week after I got my test results, I got a call from the breast cancer risk program at that hospital saying I had been referred to them and that I should call them to make an appointment. I left the voicemail there and continue to put it on my weekly to-do list, never checking it off. Someday I will make that call, although I don’t think I’m ready yet. When I do, I’ll probably ask more questions about accessible mammograms and MRIs, because part of me still wants to believe that it’s not true that accessible machines don’t exist.
I hope the lesson I learned from this journey is to advocate for yourself to get the testing, results, treatments, therapy, and providers you need and deserve, whether you are getting tested for cancer, seeking a complex diagnosis, beginning a transition, or whatever. It’s okay if you are reluctant or silent in your approach or need to give yourself time to prepare. The system is certainly broken and you are right to feel frustrated, overwhelmed, and ignored. I was truly frustrated to learn that I was still considered high risk even though I did not have any of the cancer mutations in the 88 gene profile and that I would still have to undergo additional medical testing in an ableist environment because of it. Nevertheless, I now have important information about my health risks and access to a prevention program that I did not have before. I can make better choices for myself and my body because of this. We all deserve this.
