When I found out I had a TP53 mutation, I had no idea what it meant. TP53? Never heard of it. Li-Fraumeni Syndrome? Li – what? I didn’t know what it was, but the words ‘high cancer risk’ hit me like a slap. It felt like the floor had been pulled out from under me. Again.
The TP53 gene, known as “the guardian of the genome”, is supposed to protect us. It’s responsible for producing the P53 protein that stops cells from growing abnormally and out of control, thus becoming tumors. Except mine doesn’t work. It’s essentially asleep. Gone silent. Good night. And because of that, my chances of developing cancer are over 90%. As a woman, breast cancer is practically guaranteed. And multiple cancers? They’re not just possible – they’re more likely than not. Sarcomas, brain cancer, adrenocortical carcinoma, leukemia … the list is long. And it felt like I’d just been diagnosed with them all.
My chest tightened. I could feel panic rising in my throat. I thought I might choke, throw up, or just collapse right there. This was the point of no return. I thought of how often my sister teased me for overthinking the smallest aches and pains – and now here I was, overwhelmed by the fear of something I couldn’t see. My breath was shallow, my heart racing, and all I could do was imagine the worst, knowing I couldn’t stop it. It was like my body had betrayed me, and I was powerless to stop the wave of terror crashing over me.
When you find out something like this, your mind starts running on a loop – none of it good, none of it comforting. The more I read about Li-Fraumeni Syndrome, the darker my thoughts became. My body? It felt like it had just become a ticking time bomb. The worst-case scenarios flashed through my mind, none of them seeming hypothetical. They felt real. And with every frantic click of the keyboard, my fears grew.
My throat hurts. I bet that’s esophageal adenocarcinoma.
That cramping in my lower abdomen. Forget that I’ve been dealing with period cramps since puberty – this is ovarian, uterine, or cervical cancer. No question.
A headache? I’ve had migraines since I was 8, but this one? Absolutely a brain tumor.
I couldn’t make it stop. For weeks, the fear ate away at me. I couldn’t even remember the time we spent in Orlando. The girls were at SeaWorld camp, living their best life while I spiraled, night and day, consumed by the fear that something terrible was happening inside me. I wondered constantly what other invisible threats were silently brewing in my body.
And then there was the ER Visit.
At 4am, I woke Tarik. My abdomen felt like it was being squeezed in a vice, and I couldn’t ignore it any longer. I asked him to drive me to the ER. I was certain – no, convinced – that this pain was the start of something deadly. It had to be cancer. It had to be a another tumor, growing, unstoppable.
Tarik, calm as ever, didn’t hesitate. He drove me to the nearest ER, and I sat there in a haze of fear, trying to steady myself. The doctor ran a urine culture, and when the results came back, it was a UTI. A damn UTI.
Did I overreact? Was I just panicking, or was I right all along? Was it a tumor that no one had caught yet? I couldn’t shake the feeling that maybe they missed it, maybe they didn’t know the true risk. They should have done a CT scan to be sure. But wait, CT scans have radiation and radiation is contraindicated with TP53 mutations because it can cause cancers. I was unraveling. The terror felt constant, and I couldn’t trust myself. I felt so…crazy. And lost.
Then came the call from the genetic counselor.
Li-Fraumeni Syndrome. Rare. Very Rare. Only about 1,000 families in the world have this mutation. In the US, fewer than 50,000 people carry it. And the lab that had done my genetic testing had only seen this exact mutation in 50 others. Five. Zero.
What? I couldn’t wrap my mind around it. I wasn’t just unlucky. I was a fucking unicorn. But not in the way anyone dreams of being.
The counselor explained that I’d need to be a fierce advocate for myself, from now until forever. She explained that doctors might not even know what Li-Fraumeni Syndrome is and if they did, they might never have treated a patient with it before. Great, I thought. Just another layer to this nightmare.
And then came the family testing. Was my mutation a random event? De novo, they call it. Could my parents have this too? I immediately thought of my dad, who’s been battling multiple myeloma for 16 years. My heart raced as I wondered if he also carried the mutation. Was this just my anxiety talking, or was it something real? What if it meant more bad news for my dad, or maybe – just maybe – a glimmer of hope that it stopped with me?
When I called them, my parents didn’t hesitate. Of course they’d get tested. And a few days later, the results were in: my dad had theTP53 mutation. It wasn’t just a fluke. It was inherited. That meant my siblings were also at risk. My story was no longer just mine. It was all of ours – a family grappling with risk, resilience, and the uncertainty of what’s next.
And then it hit me, crashing down like a wave on the Pacific coastline.
Just when I thought I had absorbed it all, the weight of the next realization surged over me. What about my daughters?