When you’re juggling flights, medical appointments and the realization that your body has some seriously unique coding errors, life gets…complicated. Case in point: my whirlwind trip from Orlando to Raleigh, squeezed in between the girls’ week at SeaWorld camp, for my next scheduled breast MRI.
I found a last-minute flight, which meant waking up at the unholy hour of 4am, catching a 6am flight, and carrying only the essentials: one change of clothes, my work computer, and enough anxiety to power a small city. I called my sister, Amy, with a tiny request: could I crash at her place, and oh, by the way, could she also pick me up from the airport, chauffeur me to my appointment the next day, and then drive me back to the airport so I could fly back to Orlando? You know, just sister stuff. Honestly, when you grow up in a family where any parent or sibling would drop anything to help someone in need, this kind of ask barely raises an eyebrow.
Still, asking for help isn’t my strongest suit. Naturally, I leaned on humor to smooth the discomfort – my default coping mechanism to basically everything. Luckily, Amy and her husband, Kevin, are amazing. Kevin, in true fashion, scooped me from the airport with a hot cup of tea in hand. For the uninitiated, tea is my ultimate comfort drink. Growing up with a mother raised by an Englishwoman meant I was practically weaned on the stuff.
I spent the day working at their house, gearing up for what I thought would be a quiet evening catching up with them before my appointment the next day. But expectations are funny, aren’t they? At 4pm, my surgical oncologist called.
Here’s something I’ve learned about living with a medical diagnosis: you stop screening calls. Every unknown number becomes a potential life-changer, and this call was no exception.
The surgeon got straight to the point. My genetic testing results were in: I have a TP53 genetic mutation. A what? This mutation significantly increases the risk of my breast cancer returning. As a result, her recommendation had shifted from a lumpectomy to a bi-lateral mastectomy. Oh, and that MRI I flew to North Carolina for? Completely unnecessary now. If we’re chopping everything off, then there is no need for a clear picture of tumor margins. She assured me she’d cancel it and begin transferring all my medical records to Scripps in San Diego. With a bi-lateral mastectomy on the table and the added need to coordinate with a plastic surgeon, it was clear this wasn’t something that would happen in the next couple of weeks. At this point, I still didn’t know enough to worry about the TP53 shitstorm that was brewing. My mind was swirling around how I was going to live several more weeks with this tumor continuing to grow. I wanted it OUT.
I thanked her, hung up, and thought, Okay, bilateral mastectomy it is. I had no clue what TP53 meant. The surgeon only mentioned the heightened risk of breast cancer recurrence, so I felt weirdly calm about the genetic testing results – like I had a plan and could stick to it.
And then, naturally, I googled TP53 mutations.
Here’s a pro tip: never google medical terms unless you’re ready for an anxiety avalanche. Within minutes, I was neck-deep in search results and realized that TP53 wasn’t just a quirky genetic mutation. Oh no. It’s the star of its own horror movie, known as Li-Fraumeni Syndrome. This rare, high cancer risk predisposition doesn’t just invite breast cancer to the party; it rolls out the red carpet for a whole lineup of other soft tissue and hematological cancers too, from sarcomas to brain cancer to leukemia.
Cue the spiraling.