P53: You have no idea

by reestheskin on 04/04/2019

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P53 and Me | NEJM

A long, long time ago, I published papers on p53 and skin (demonstrating p53 upregulation in a UVR wavelength specific way). But germline mutations are something else. The account below is from a US medical student with Li-Fraumeni syndrome (germline p53 mutations)

The changes to my outlook, my psyche, have been much more profound. It’s impossible to describe the unique panic that comes with imagining that any of your cells could decide to rebel at any moment — to propagate, proliferate, “deranged and ambitious,” as my anatomy professor remarked of cancer. It sounds like a paranoid medical student’s fugue-state nightmare. Any cancer at any time: a recurrence, a new primary, a treatment-related malignancy. Some are more likely than others: brain, colon, leukemia, sarcomas. But the improvisation of my cells and their environment is the only limit. And then there are more practical questions: Should I wear sunscreen every day, or is it better just to stay inside?

I recently saw a college friend I hadn’t seen in 10 years and told her about my mutation. Nonmedical people react badly to such news. Medical people probably would, too, but we have rehearsed emotional distance, so our reactions often stay internal, to be unearthed later. “You must be very careful about what you…eat? Drink? What you…put into your body?” she said.

“No,” I said. “There’s no point to that.”

“Oh,” she said, saddened. “This must have changed you. It must really affect the way that you see…the world?”

I nodded, thinking, You have no idea.