Struck by genetic lightning: Living with Li-Fraumeni syndrome and metastatic breast cancer

A life-altering diagnosis during a global crisis

The whole world changed during this time, and some aspects of the pandemic served me well as a newly diagnosed person with cancer. Mask-wearing put me at ease when I was at my most vulnerable, contactless delivery made daily essentials more accessible, and virtual work and doctor's appointments made it easier for me to stay at home, to name a few. Yet, I felt more alone and isolated than ever. I was just handed a life sentence without the ability to “seize the day.” I had an army of friends and family, but COVID rules required me to go to every oncology appointment, every lab draw, every scan, and every treatment alone. My husband didn’t have the opportunity to meet my oncologist in person until 2 years after my diagnosis. It was isolating.

I was also diagnosed with a rare genetic condition called Li-Fraumeni syndrome (LFS), in which a gene that suppresses tumors is faulty and increases my risk for all kinds of cancers (see Living LFS for more information). I was one of approximately 20% of people diagnosed with this incredibly rare condition that is de novo, meaning I was the first in my family to have it. I only became aware of it after my MBC diagnosis.

As I researched LFS, I learned that childhood cancers are very common, so it was surprising that I made it to 32 years old before being diagnosed with my first cancer. I felt like I should be grateful for making it to the ripe ole’ age of 32.

Li-Fraumeni syndrome: Missed opportunities for early detection?

I couldn't help but look back on all the moments in my life that might have been a red flag for LFS. I developed multiple growths in various places since I was a child, but they were always benign, so it wasn’t looked into any further. In 2018 I even had a breast lump checked out, but I wasn’t approved for a mammogram because I was “too young.” Had my doctors been aware of my LFS diagnosis, I would have been too old for my first mammogram. What if they could have found the cancer at that time? Would my life look different right now?

Why is genetic screening for LFS, with its level of potential finality, not standard practice? I guess, since it’s so rare, it’s not seen as necessary. But, from where I’m standing, that sounds the same as, “some lives aren't worth saving.” It's as if the statistical rarity of LFS isn't worth doing a simple blood test.

On the flip side, I have had the privilege and luxury of living for 32 years blissfully unaware that the odds were stacked against me. And knowledge doesn't necessarily prevent cancer. In connecting with the LFS community, I see children’s lives being taken by cancer, I see adults much younger than me experiencing their ninth—or more—cancer, and I read stories that would make even the most emotionless human crumble into a puddle of tears. And many of these stories come from people who knew their LFS diagnosis early.

Balancing grief and gratitude

For a long while, I was constantly battling feelings of grief and gratitude. The back and forth between these polarizing feelings would often send me into a shame spiral. There’s this voice in the back of my mind that rears her ugly head now and then and tells me that I don’t have a right to complain because so many aspects of my story are steeped in luck and privilege. I often hear that voice saying things like, “Be grateful for what you already have,” or “Why can’t you just be positive?”

After counseling and much reflection, I am kinder and gentler with myself, though it’s a daily struggle. I recognize that my feelings are valid and what I’m dealing with is very real, regardless of anything happening outside of me. When I'm able, I can allow the experiences of others to provide perspective and allow me to focus on things I am grateful for, without shaming or guilting myself. I try to contemplate what I would say to others in my situation. I would never invalidate their feelings or insinuate that they should be grateful. I’m learning to recognize that I deserve the same kindness I bestow onto others. What I’m going through matters; I matter.

This blog was updated on February 16, 2024, for minor changes in the title and to add headers.