The Best American Science and Nature Writing 2017

by Hope Jahren

  This belief in the inexorable movement of time is what seems to have allowed Markopoulou to reinvent herself—to turn away from years spent building a career as a physicist and to start from scratch as a designer and entrepreneur. “This is the nice thing about me, but it’s also a little bit weird: when I do something, I just do it. So when I switched, I switched,” she says. “Our mind can live in the past, the future, or any fantasy place it wants, but our body only processes the now.”

  Doppel is unlikely to be the end of Markopoulou’s journey. “Whatever it is that you do, it has to have a context. Academia is one context, business is another context. I can’t really tell you if it’s better or worse, it’s a different set of rules—and right now I have come to no conclusions as to what I think about those rules. I’m still exploring.”

  DAVID EPSTEIN

  The DIY Scientist, the Olympian, and the Mutated Gene

  FROM ProPublica

  Two years ago I wrote a book called The Sports Gene that examines the intersection of genetics and athleticism. I expected my mother to buy a dozen copies and invite me to her book club and that would be the end of it. (She did.) Instead I was almost immediately bombarded with emails from people wanting to know if their kid has Serena Williams’s genes. One coach emailed, wondering how one would get athletes involved in genetic experimentation.

  They were coming so quickly, and many were so unhinged, that I took a brief break from opening them.

  And then I got one that had this subject heading: “Olympic medalist and muscular dystrophy patient with the same mutation.” Now that caught my attention. I wondered if it might point me to some article or paper in a genetics journal about an elite athlete I’d somehow missed.

  Instead it was a personal note from a 39-year-old Iowa mother named Jill Viles. She was the muscular dystrophy patient, and she had an elaborate theory linking the gene mutation that made her muscles wither to an Olympic sprinter named Priscilla Lopes-Schliep. She offered to send me more info if I was interested. Sure, I told her, send more.

  A few days later I got a package from Jill, and it was . . . how to put it? . . . quite a bit more elaborate than I had anticipated. It included a stack of family photos—the originals, not copies; a detailed medical history; scientific papers; and a 19-page illustrated and bound packet. I flipped through the packet, and at first it seemed a little strange. Not ransom-note strange, but there were hand-drawn diagrams with cutouts of little cartoon weightlifters representing protein molecules. Jill had clearly put a lot of effort into this, so I felt like I had to at least read it. Within a few minutes I was astounded. This woman knew some serious science. She offhandedly noted that certain hormones, like insulin, were too large to enter our cells directly; she referred to gene mutations by their specific DNA addresses, the way a scientist would.

  And then I came to page 14.

  There were two photos, side by side. One was of Jill, in a royal blue bikini, sitting at the beach. Her torso looks completely normal. But her arms are spindles. They almost couldn’t be skinnier, like the sticks jabbed into a snowman for arms. And her legs are so thin that her knee joint is as wide as her thigh. “Those legs can’t possibly hold her,” I thought.

  The other picture was of Priscilla Lopes-Schliep. Priscilla is one of the best sprinters in Canadian history. At the 2008 Olympics in Beijing she won the bronze medal in the 100-meter hurdles. It was the first Canadian Olympic medal in track and field since 1996. In 2010, Priscilla was the best 100-meter hurdler in the world.

  The photo of her beside Jill is remarkable. Priscilla is in midstride. It’s difficult to describe just how muscular she looks. She’s like the vision of a superhero that a third grader might draw. Oblong muscles are bursting from her thighs. Ropey veins snake along her biceps.

  This is the woman Jill thought she shared a mutant gene with? I think I laughed looking at the pictures side by side. Somehow, from looking at pictures of Priscilla on the Internet, Jill saw something that she recognized in her own much smaller body and decided Priscilla shares her rare gene mutation. And since Priscilla doesn’t have muscular dystrophy, her body must have found some way “to go around it,” as Jill put it, and make enormous muscles.

  If she was right, Jill thought, maybe scientists could study both of them and figure out how to help people with muscles like Jill’s have muscles a little more toward the Priscilla end of the human physique spectrum. Jill was sharing all this with me because she wasn’t sure how best to contact Priscilla and hoped I would facilitate an introduction.

  It seemed absolutely crazy. The idea that an Iowa housewife, equipped with the cutting-edge medical tool known as Google Images, would make a medical discovery about a pro athlete who sees doctors and athletic trainers as part of her job?

  I consulted Harvard geneticist Robert C. Green to get his thoughts, in part because he has done important work on how people react to receiving information about their genes. Green was open to discussing it, but he recalls a justifiable concern that had nothing to do with science: “Empowering a relationship between these two women could end badly,” he says. “People go off the deep end when they are relating to celebrities they think they have a connection to.” I was skeptical too. Maybe she was a nut job.

  I had no idea yet that Jill, just by investigating her own family, had learned more about the manifestations of her disease than nearly anyone in the world, and that she could see things that no one else could.

  Jill was born in 1974, and she met all the normal baby milestones—sitting, crawling, and walking right on time. She was tiny, though. Not short, just slight. She was so skinny as a three-year-old that she once fell into a toilet bowl, her feet sticking over her head. The stumbling didn’t start until she was four.

  Her preschool teacher noticed it first. Pretty soon it morphed into full-fledged face-planting. Little Jill told her mother she was afraid of witches’ fingers. “When I walked I’d feel the sensation of there were almost little gnarled hands and fingers reaching up and grabbing my shins,” Jill says, “and I’d fall really forcefully.”

  Jill’s dad remembered having some trouble walking as a kid, and his doctors told him he’d had a very mild case of polio. But Jill’s symptoms were much more pronounced, and her pediatrician was stumped. He told the family to go to the Mayo Clinic.

  They were stumped there too. They tested the entire family and saw that Jill, her father, and her brother had higher-than-normal levels of creatine kinase in their blood. That is an enzyme that leaks out of muscles when they are damaged, but Jill was the only one struggling to walk. Based on the creatine kinase, the doctors thought the family might have some form of muscular dystrophy, but that didn’t usually show up this way in little girls, and why did Jill’s father and brother seem fine?

  “They were really sure they’d never seen anything like this,” Jill says. “They said our family was extremely unique, and they couldn’t define what type it was. And ultimately that’s good in one way, because they’re being honest. But on the other hand, it was terrifying . . . It’s alarming if you don’t have something to grasp a hold of.”

  Jill returned to the Mayo Clinic every summer, and it was always the same. There was nothing doctors could do and nothing new they could tell her. The constant falling on her face stopped on its own, but it was replaced by a burning sensation in her legs. And while Jill was growing in height like a normal girl, the fat on her arms and legs was vanishing. By the time she was eight, her arms and legs were so skinny that other kids would wrap their fingers around them and ask if her mother fed her at home.

  By 12, veins were starting to pop out of her legs, and the other kids started asking how it felt to be old. She was rail-thin, but she could still do most of the things normal kids did. A video of her 12th birthday shows Jill at a pool party, her cannonball displacing a teacup of water.

  Later that year her muscles started to fail again. “I can remember just getting on a bike I’d always ridden,” Jill says, “and
feeling like someone came up behind me and just threw me into the handlebars.” Suddenly she couldn’t hold her upper body up over the bike. She invited a friend to go roller skating and found that she couldn’t stand up on the skates. Over the course of a few weeks, Jill had completely lost the ability to ride a bike and skate.

  Something was “terribly wrong,” as she put it, but she didn’t even bother to tell her parents about it. Other people went to doctors and got solutions. That had never happened for Jill, so she started looking for answers on her own, the way a kid would. She started bringing home books from the library on poltergeists and other supernatural phenomena. “I remember it really freaked out my dad at one point,” she says. “He was like, ‘Well, are you into the occult, or what?’ It was nothing of the sort.” It was just that she couldn’t explain the forces acting on her body. She was fascinated by the stories of people bedeviled by inexplicable maladies or situations. Jill says, “Ya know, I believe them.”

  By the time she left for college, Jill had maxed out at five-foot-three and 87 pounds. She had long since moved on from poltergeists, but not from the knowledge that if she was going to figure out what was happening to her body, she would have to go it alone.

  Almost as soon as she arrived on campus, she hit the library. She spent more time there than in classes, about 25 hours a week as she recalls it. Twenty-five hours a week just poring over every textbook and scientific journal she could find on muscle disease. She did this for months, going article by article, like a police officer driving up and down every street doing a grid search. But nothing quite fit. Not until she came to a paper in the journal Muscle and Nerve on a rare type of muscular dystrophy called Emery-Dreifuss. “Looking at the pictures,” Jill says, “it was a very startling thing to realize I’m seeing my dad’s arm.”

  Jill’s dad was thin, but the muscles in his forearm and hand were unusually well defined. Jill would call it a “Popeye arm” when she was a little girl. In another paper she saw that Emery-Dreifuss patients often had that same trait; it was even referred to as a Popeye arm deformity. But she didn’t see pictures of women with the disease.

  The Muscle and Nerve paper described the three hallmarks of Emery-Dreifuss patients: they couldn’t touch their chins to their chests or their heels to the floor, and their arms were perpetually bent at the elbow. The medical term is contractures. In middle school, Jill’s head once got stuck for a while so that she was looking up.

  “I’m getting chills reading this,” Jill says. “I’ve got all three.” Picture a Barbie doll—arms always bent, feet slanted to fit into high heels, and a stiff neck. It’s “very ironic that we give this to little girls and say this is perfect, and we’re actually handing them a doll that has a genetic disorder.”

  Jill was positive that this is what she had. So she read on, and got scared. The papers noted that Emery-Dreifuss always comes with heart trouble. She had to read more, so before going home for college break she stuffed her bag full of medical books and papers.

  She didn’t want to scare anyone in the family, so she didn’t read the papers openly. But one day during break she went to the kitchen to microwave popcorn and returned to find her father perusing the stack of material from her bag. He told her he had all the symptoms she was reading about. “Well, yeah, I know . . . the arm, and the neck,” Jill told him. No, he replied, all the cardiac symptoms.

  Doctors had told Jill’s father years earlier that his irregular heart rhythms had been due to some kind of virus. “It’s not,” Jill told him. “We have Emery-Dreifuss.” She went to the Iowa Heart Center with her Emery-Dreifuss papers and started insisting that a cardiologist needed to see her father. At first nurses told her she’d need a referral. But Jill had trouble getting one and was so relentless that eventually they gave in. The cardiologist put a Holter monitor on Jill’s dad, which tracked his heart’s electrical activity for a day. At one point his pulse rate dropped into the 20s, which meant he was either about to win the Tour de France or he might be about to drop dead. He was 45, and had a pacemaker put in immediately.

  “She saved her dad’s life,” Jill’s mother, Mary, says. “If it wasn’t for her, how would we have ever known this? . . . But I think it was a hard burden for her, because it seemed like no one else was looking.”

  Even after the pacemaker surgery, the Iowa Heart Center couldn’t confirm that Emery-Dreifuss ran in Jill’s family. She had, though, in her reading, come across a group of researchers in Italy who were looking for families with Emery-Dreifuss to study, hoping to locate a gene mutation that causes the disease.

  So 19-year-old Jill put on her most serious navy pantsuit, again gathered up her papers, and took them to a neurologist in Des Moines. She asked the neurologist to take a look, hoping that she would help her connect with the Italian team and get in the study. But the neurologist would have none of it. “No, you don’t have that,” Jill recalls the neurologist saying sternly. And then she refused even to look at the papers. It might seem rude that a doctor refused just to hear Jill out and glance at the papers, but at the time most doctors believed that Emery-Dreifuss only occurred in men. Plus this was a self-diagnosis of an obscure disease coming from a teenager.

  So Jill wrote to the Italians herself. She constructed a family tree, noting all the symptoms she saw in her father, two younger brothers, and a younger sister, and then she stripped down to her underwear. “I set the timer on my camera and I took pictures of myself,” Jill says, “because I thought, Well, if that’s how I identified it, let me send a picture.”

  Up to that point the Italians had only collected four other families to study, so they were thrilled to hear from Jill and immediately wrote back. From the letter it seems as though the Italian team thought Jill had access to a lab. Can you send DNA from your entire family? it reads. “If you cannot prepare DNA, just send fresh blood.” And then it gave mailing instructions.

  Discouraged by her encounter with the neurologist, Jill figured it would be a dead end to show up at a hospital and ask that her blood be drawn so she could ship it to Italy. So she convinced a nurse friend to smuggle needles and test tubes to her house. They filled them with her family’s blood. At the post office, when Jill declared that her packages contained blood, an employee had to retrieve a big binder that listed what can be shipped to various countries. Fortunately, Italy took blood in the mail.

  Today an entire human genome can be sequenced in a few days. But in the mid-1990s sequencing was a ponderous ordeal. It would be four years before Jill heard back from the Italians.

  In the years after she sent her family’s blood overseas, Jill waited for confirmation that she had Emery-Dreifuss. Sort of.

  She was so confident that in her annual trips to the Mayo Clinic she started taking a pen from her purse and writing “Emery-Dreifuss” on her medical chart. Her mom would get upset: “You cannot change your chart!” I want what I actually have to be listed, Jill would tell her.

  Then in 1999 Jill got an email from Italy. She stopped before opening it to let the moment sink in. And then she clicked. She had a mutation on a gene known as LMNA, or, for ease, the lamin gene. So did her father, two brothers, and a sister. So did the other four families in the study with Emery-Dreifuss.

  Jill had been right about her self-diagnosis, and the researchers discovered the responsible gene mutation. What makes the lamin gene so important is that it carries a recipe for constructing the nuclear lamina, a tangled net of proteins at the center of every cell—one that influences how other genes are flipped on or off, like light switches, changing how the body builds fat and muscle. Mutations in the lamin gene are known to cause more than a dozen diseases, from a gradual loss of physical sensation to a hyperrapid aging known colloquially as “Benjamin Button disease.”

  Jill’s lamin gene has a typo in it, a serious one. We all have little genome typos, or mutations, hundreds of them. Mutation is simply the term for a version of a gene that fewer than 2 percent of the population has. But most of
them don’t do anything. Along the spiraling ladders of her DNA, the 3 billion G’s, T’s, A’s, and C’s in Jill’s genome, the single-letter typo on her lamin gene just happened to be in a very unfortunate place. To appreciate the scale of what happened to Jill, imagine enough letters to fill 13 complete sets of Encyclopaedia Britannica with a single-letter typo that changes the meaning of a crucial entry.

  Jill was glad that she had been right about Emery-Dreifuss and that she knew her mutation. But still, “it’s almost darkly comical,” Jill says. “It comes down to a G that was changed to a C.”

  Soon after she got her genetic results from Italy, the research group published a paper in the journal Nature Genetics showing that a mutation on the lamin gene can cause Emery-Dreifuss. They thanked Jill at the bottom of the paper. (Her last name at the time was Dopf.)

  Jill was 25, and a lab director at Johns Hopkins University had heard through the medical grapevine about the young woman who diagnosed her own Emery-Dreifuss. Wanting both a dogged intern and—why not?—a real-life lamin mutant in her lab, the scientist offered Jill a summer internship. Jill’s job was to sift through scientific journals and find any references to diseases that might be caused by a lamin mutation.

  Sitting there day after day reading, as she had freshman year in college in the library, Jill came across an incredibly rare disease. A disorder called partial lipodystrophy. It caused fat on certain parts of the body, particularly the limbs, to disappear, leaving veins and muscles to stand out as if they’d been shrink-wrapped in skin. Looking at photos of patients with partial lipodystrophy, all Jill could think was that they looked like her family members.