Mercies in Disguise

by Gina Kolata

April 3, 2017

The two people Amanda Baxley loves the most begged her not to be tested—at least not now. “Please,” her mother pleaded. “Your dad is so sick. We are hurting so much already.” Her boyfriend implored her not to invite news that could cast such a long and dark shadow over their future. “You don’t know what it will do to you,” he warned.

But she had always been so stubborn, so sure of what she wanted, so able to push past trepidation. And she was driven by the impossible expectations of what this day would bring; she had to know her future in order to control it. If she had the mutated gene—a forecast of a horrifying and fatal illness, one without treatment or cure, passed down in her family from generation to generation—she vowed it would stop with her.

So today, with her mother and boyfriend beside her for support, Amanda sits across from her therapist—a man she first saw when she was in college, when her troubles with her boyfriend seemed overwhelming. Now, at twenty-six years old, she is facing a dilemma that seems to reach beyond her young adulthood, into the ageless realm of the surreal. Which life will it be? The one in which the years stretch outward boundlessly or the one where the future twists into a discernible, ghastly shape? Amanda glances around the room. The office is as it ever was: cozy with a fireplace across from a love seat and a couple of chairs. She has been here many times before, but now it is another world.

A gamine with huge brown eyes and short, glossy brown hair, Amanda vibrates with energy. And though she isn’t able to bring it to bear at this particular moment, she is an optimist, always reaching instinctively for promise. She’s a hugger and a weeper, someone who does not hide her emotions. Today, she is still glowing from a recent trip to Africa, where she was able to forget herself a little while helping people who had so much less than she. At times, she was even able to forget this day, persuade herself it was not coming, this moment that will inextricably change her life.

Amanda’s fate resides in the result of a blood test. It will reveal whether she possesses a single mutated gene, one that has contorted the fates of so many of her family members. The results are with a doctor in California, who’d ordered the test. In a few minutes the phone will ring and that doctor, on the other side of the country, will open the envelope and tell her, over speakerphone, the fateful news.

If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer might come your way? Or would you turn away, hoping to protect yourself from knowing too much?

Testing would allow you to prepare; it would permit you to plan your life accordingly, tying up loose ends and making adjustments for your truncated future. It would be practical. Perhaps it would feel the only responsible thing to do: to tell your partner or spouse that he or she will be bound to this illness, as you are. It might keep you from passing your fate on to unborn children. On the other hand, divining this illness could rob you of the limited number of carefree years left to you—years that could be spent pursuing a life you’d once taken for granted. Perhaps choosing not to know would allow you to retain a certain innocence, hopefully preserving a part of the person you were before being faced with such a dilemma. Were you to choose to live in ignorance, though, you might remain peripherally alert to the first signs of fatality: a slackening grip or a spasm in a muscle. But then, we all know the rough outline—there is the certitude of death for everyone—so why take on the weight of learning the specifics? What would you do with this information, knowing there is nothing you can do to stop the illness?

This is the story of an almost archetypal family in a small town in South Carolina faced with a medical mystery they were determined to solve.

The Baxley family is a proud and determined clan, including among them respected doctors, dignified in their approach. They are a family that works hard to maintain a close-knit bond. Though they experienced the usual abrasions—teenage rebellions, angst over career choices, personality clashes—overall, life was good.

Until, without warning, they were thrust into a harrowing medical dilemma. One by one, various members of the family were struck with an inscrutable disease, made more perplexing by the fact that it changed form slightly with each new person who got it. Often it started with a dizzy feeling or a bit of confusion. This progressed to shaky hands that could not hold a pen and moved on to lurching movements of the body. The disease ultimately rendered its victims unable to talk or to swallow without choking. And it always ended in death.

Doctors, even specialists at leading medical centers, were perplexed. The disease mimicked some of the physical symptoms of Parkinson’s and some of the neurological symptoms of Alzheimer’s—and yet this illness exists entirely in its own sphere.

For a brief and intertwining period of history, the scientific world and the Baxley family found themselves on parallel missions to unlock the mystery of this illness.

The scientific quest began with diseases like none the researchers had ever seen before. Their very nature seemed to violate the laws of biology. This class of disease was infectious but could also be inherited through mutated genes. But the principal hypothesis for why this would be true—substantiated in studies and experiments—was fiercely rejected by many prominent researchers. Gradually, however, the pieces fell into place and that once crazy-sounding hypothesis, involving distorted proteins and gene mutations that can produce them, gained credence. The revelations were so groundbreaking that two Nobel Prizes—separated by nearly thirty years—were awarded to the lead researchers. And though the Baxleys had not yet discovered it, their family was carrying one of those mutated genes.

As these two tales converged—scientific and familial—they brought to light a fatal gene mutation and a blood test that could reveal who had it. Now the Baxleys could know who in the family had inherited this curse—and who would be spared.

This is a story of a family that took matters into its own hands when the medical world abandoned them. It is a story of how science presented the Baxley family members with a responsibility they’d never asked for or anticipated—but that each took on in their own daring way. And it is a story of how a horrific disease taught a family forbearance and the ability to find hope even as the daunting circumstances threatened to extinguish it. This is a story of disrupting destiny.

* * *

In her therapist’s office, Amanda is on edge, suddenly wondering if perhaps she has mistaken headstrong for thoughtful; this was what she had wanted when she sent in the vial of her blood for the test, wasn’t it? She thought she’d been doing the hard work to prepare herself all along, but suddenly it feels as if there are no laws—physical, moral, or otherwise—nothing to hold her to the ground, no promise that it will be all right, no map to guide her afterward.

The phone rings. The California doctor is on the line. “Are you ready, Amanda?” her therapist asks.


Copyright © 2017 by Gina Kolata

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Gina Kolata (M.A.) is a writer and medical reporter for The New York Times. She has previously written several books, including Flu, and edited collections of popular science writing. Ms. Kolata lives with her husband in Princeton, New Jersey.