Range, page 19
Swanson wanted to show that areas of specialist literature that never normally overlapped were rife with hidden interdisciplinary treasures waiting to be connected. He created a computer system, Arrowsmith, that helped other users do what he did—devise searches that might turn up distant but relevant sets of scientific articles, and ignited a field of information science that grapples with connecting diverse areas of knowledge, as specialties that can inform one another drift apart.
Swanson passed away in 2012, so I contacted his daughter, political philosophy professor Judy Swanson, to see if she had ever discussed with him his concerns about specialization. When I reached her, she was at a conference, “as it happens, one related to overspecialization in the social sciences,” she told me. From the outside, Judy Swanson looks pretty specialized. Her faculty web page listed forty-four of her articles and books, every single one of which had “Aristotle” in the title. So I asked how she felt about her own specialization, and she seemed surprised. She did not consider herself specialized compared to her peers, she told me, partly because she spends time teaching undergraduates, which requires more than Aristotle. “There is this feeling of frustration,” she told me, “that I should be doing something more specialized.” Academic departments no longer merely fracture naturally into subspecialties, they elevate narrowness as an ideal.
That is counterproductive. As Karim Lakhani put it after his InnoCentive research, a key to creative problem solving is tapping outsiders who use different approaches “so that the ‘home field’ for the problem does not end up constraining the solution.” Sometimes, the home field can be so constrained that a curious outsider is truly the only one who can see the solution.
* * *
• • •
The email subject line caught my eye: “Olympic medalist and muscular dystrophy patient with the same mutation.”
I had just written a book on genetics and athleticism, and figured it would point to some journal article I had missed. Instead, it was a note from the muscular dystrophy patient herself, Jill Viles, a thirty-nine-year-old woman in Iowa. She had an elaborate theory connecting the gene mutation that withered her muscles to those of an Olympic sprinter, and she offered to send more info.
I expected a letter, maybe some news clippings. I got a stack of original family photos, a detailed medical history, and a nineteen-page, bound and illustrated packet that referenced gene mutations by their specific DNA locations. She had done some serious homework.
On page 14 there was a photo of Jill in a blue bikini, blonde hair tousled, smiling and sitting in the sand. Her torso looks normal, but her arms are strikingly skinny, like twigs jabbed into a snowman. Her legs did not look like they could possibly hold her, the thigh no wider than her knee joint.
Beside that photo was one of Priscilla Lopes-Schliep, one of the best sprinters in Canadian history. At the 2008 Olympics in Beijing, she won a bronze medal in the 100-meter hurdles. The juxtaposition was breathtaking. Priscilla is midstride, ropes of muscle winding down her legs, veins bursting from her forearms. She’s like the vision of a superhero a second grader might draw. I could hardly have imagined two women who looked less likely to share a biological blueprint.
In online pictures of Priscilla, Jill recognized something in her own, vastly scrawnier physique—a familiar pattern of missing fat on her limbs. Her theory was that she and Priscilla have the same mutated gene, but because Priscilla doesn’t have muscular dystrophy, her body had found some way “to go around it,” as Jill put it, and was instead making gigantic muscles. If her theory was right, Jill hoped, scientists would want to study her and Priscilla to figure out how to help people with muscles like Jill have muscles a little more toward the Priscilla end of the human physique spectrum. She wanted my help convincing Priscilla to get a genetic test.
The idea that a part-time substitute teacher, wielding the cutting-edge medical instrument known as Google Images, would make a discovery about a pro athlete who is examined by doctors as part of her job struck me as somewhere between extremely unlikely and patently nuts. I consulted a Harvard geneticist. He was concerned. “Empowering a relationship between these two women could end badly,” he told me. “People go off the deep end when they are relating to celebrities they think they have a connection to.”
I hadn’t even considered that before; I certainly didn’t want to facilitate a stalker. It took time for Jill to convince me that because of her unique life experience, she could see what no specialist could.
* * *
• • •
When Jill was four, a preschool teacher noticed her stumbling. Jill told her mother she was afraid of “witches’ fingers” that were grabbing her shins and tripping her. Her pediatrician sent the family to the Mayo Clinic.
Blood tests showed that Jill, her father, and her brother had higher than normal levels of creatine kinase, an enzyme that spills from damaged muscles. Doctors thought some sort of muscular dystrophy might run in the family, but it didn’t normally show up that way in little girls, and Jill’s brother and father seemed fine.
“They said our family was extremely unique,” Jill told me. “That’s good in one way because they’re being honest. But on the other hand, it was terrifying.”
Jill returned to Mayo every summer, and it was always the same. She had stopped falling, but by the time she was eight the fat on her limbs was vanishing. Other kids could wrap their fingers around her arm, and when veins started protruding from her legs, they asked her how it felt to be old. Jill’s mother was so worried about her daughter’s social life that she clandestinely paid another girl to hang out with her. At twelve, she began struggling to hold her body upright on her bicycle, and had to cling to the railing at a roller skating rink.
Jill began to hunt for answers, kid style. She checked out library books on poltergeists. “It really freaked out my dad,” she told me. “He was like, ‘Well, are you into the occult, or what?’ It was nothing of the sort.” She just could not explain what was happening to her, so when she read stories of people with inexplicable afflictions, “Ya know, I believed them.”
By the time she left for college, Jill was five foot three and eighty-seven pounds. She hit the library, poring over any scientific journal she could find on muscle disease.
She came upon a paper in Muscle and Nerve, on a rare type of muscular dystrophy called Emery-Dreifuss, and was startled by an accompanying photo. That’s my dad’s arm, she thought.
Her dad was thin but his forearm muscles were unusually well defined. Jill called it “Popeye arm” when she was little. Another paper describing Emery-Dreifuss patients actually referred to a Popeye arm deformity. The Muscle and Nerve paper reported that Emery-Dreifuss patients have “contractures” that affect joint mobility.
“I’m getting chills reading this,” Jill recalled. She described her own contractures as just like a Barbie doll: arms always bent, neck stiff, feet perma-slanted for high heels. The research indicated that Emery-Dreifuss only occurred in males, but Jill was certain she had it, and she was afraid. It comes with heart problems.
She stuffed her bag with articles to bring home over college break. One day, she found her father flipping through them. He had all the symptoms, he told her. “Well, yeah, I know . . . the arm, and the neck,” Jill replied. No, he said: the cardiac symptoms.
For years Jill’s father had been told that his irregular heart rhythms were due to a virus. “It’s not,” Jill told him instantly. “We have Emery-Dreifuss.” She took her forty-five-year-old father to the Iowa Heart Center and insisted that a cardiologist see him. Nurses demanded a referral, but Jill was so persistent that they relented. The cardiologist put a monitor on her dad that tracked his heart’s electrical activity for a day, during which his pulse dropped into the twenties. He was either ready to win the Tour de France or about to drop dead. He was rushed into emergency surgery for a pacemaker. “She saved her dad’s life,” Jill’s mother, Mary, told me.
Still, the Iowa Heart Center could not confirm the family condition. In her reading, Jill came across an Italian research group searching for families with Emery-Dreifuss. They were hoping to locate a gene mutation that caused it.
Nineteen-year-old Jill put on her most imposing navy pantsuit, took her papers to a neurologist in Des Moines, and asked to be connected to the Italian study. “No, you don’t have that,” she recalled the neurologist saying sternly. She refused even to look at the papers. In fairness, Jill was a teenager self-diagnosing an extremely rare disease known to occur only in men. So in 1995 she wrote to the Italians, and included a picture of herself.
The response she got from the Istituto di Genetica Biochimica ed Evoluzionistica was clearly meant for a scientist. Please send DNA from the entire family, it read. “If you cannot prepare DNA, just send fresh blood.” Jill convinced a nurse friend to smuggle needles and test tubes to her house. Fortunately, Italy accepted blood by normal mail.
It would be years before Jill heard from the Italians again, but she had made up her mind. On her annual trip to the Mayo Clinic, against her mother’s protestations she took her own pen and wrote “Emery-Dreifuss” on her medical chart.
In 1999, she got an email from Italy. She let the moment sink in, and then clicked. She had a mutation on a gene known as LMNA, or the lamin gene, colloquially. Her father did too. So did two brothers and a sister. So did four other families in the study with Emery-Dreifuss. Jill had been right.
The lamin gene carries a recipe for constructing a tangle of proteins at the center of every cell that influences how other genes are switched on or off, like lights, changing how the body builds fat and muscle. Somewhere along the three billion Gs, Ts, As, and Cs in Jill’s genome, a single-letter typo just happened to be very poorly placed.
Jill was happy to have helped discover a new disease-causing mutation. And yet “it’s almost darkly comical,” she told me. “It comes down to a G that was changed to a C.”
* * *
• • •
Jill’s father was sixty-three, in 2012, when his heart finally failed.
By then, Jill had transitioned to a motorized scooter, gotten married and had a son, and retired from her medical detective work.
Days after their father passed, her younger sister showed her a picture online of an extremely muscular Olympic sprinter who was conspicuously missing fat. “I took one look at it, and just . . . what?! We don’t have that. What are you talking about?” Jill said. Then she got curious.
Jill had actually wondered about fat for a long time. Like muscle, it was noticeably absent from her limbs. More than a decade earlier, when she was twenty-five, a lab director at Johns Hopkins heard about her and, wanting a real-life lamin mutant in the lab, offered her a summer internship perusing journals for any condition caused by a lamin mutation. She came across an incredibly rare disease called partial lipodystrophy, which causes fat on the limbs to disappear, leaving veins and muscles shrink-wrapped in skin. Again, Jill saw her family. Could she have not one, but two ridiculously rare genetic diseases? She pestered doctors at a medical conference with photos. They assured her she did not have lipodystrophy, and diagnosed her with something more common: intern syndrome. “Where you have a medical student introduced to a lot of new diseases,” Jill said, “and they keep thinking they have what they’re reading about.”
It all came flooding back when she Googled images of Priscilla. Not just competition photos, but pictures of her at home, holding her baby daughter. There were the protruding veins, the familiar fall of a shirtsleeve over fatless arms, the visible division between muscles in the hips and butt. “I knew we were cut from the same cloth,” Jill said. “A very rare cloth.”
It was Jill’s third visual lock. First was her own family’s Emery-Dreifuss, then when she thought they also had lipodystrophy, and now she saw in Priscilla the same pattern of missing fat. But if they shared a fat condition, how did Priscilla get a double helping of muscle while she got almost none? “This is my kryptonite, but this is her rocket fuel,” Jill thought. “We’re like comic book superheroes that are just as divergent as can be. I mean, her body has found a way around [muscle loss] somehow.” For a year, she pondered how to ask Priscilla to get a genetic test without showing up at a track meet and chasing her in a motorized scooter.
Jill happened to be near her television when I was talking about athletes and genetics on a morning program. “I thought, ‘Oh, this is divine providence,’” she told me. She sent the packet, and asked if I would reach out to Priscilla. Priscilla’s agent, Kris Mychasiw, and I happened to follow one another on Twitter, so I messaged him. He humored me as I tried to explain the very unlikely idea that these two women were some kind of biological opposites, but also that I was very impressed with Jill’s effort. He passed the message to Priscilla.
“He was just like, ‘This lady in Iowa. She says she has the same gene as you, and wants to have a conversation,’” Priscilla recalled. “I was kind of like, ‘Um, I don’t know, Kris.’” He told her just to take my call.
Thanks to her physique, media in Europe openly accused Priscilla of steroid use. Someone posted a picture of her online, straining to the Olympic finish, with a male bodybuilder’s head pasted on her body. “That was pretty messed up,” Priscilla told me. At the 2009 World Championships in Berlin, she was drug tested minutes before winning the silver medal, even though drug testing was technically not allowed that close to a race. When I called, she was eager to share photos, to show that she was already unusually lean and veiny in high school. One photo showed women in her family flexing. An elderly relative is showing off rippling biceps, a thick cord of vein snaking across her elbow. After our conversation, Priscilla agreed to speak with Jill.
They bonded easily on the phone—over how they’d been teased about their veins as kids—and Priscilla agreed to meet Jill and her mom in a hotel lobby in Toronto. When Priscilla arrived, “Oh my gosh,” Jill thought, “it’s like seeing family.” They retreated to a hotel hallway to compare body parts, vastly different in size but with the same topography exposed by a lack of fat. “There is something real here,” Priscilla recalled thinking. “Let’s research. Let’s find out.”
It took a year to find a doctor willing to analyze Priscilla’s lamin gene. Finally, Jill went to a medical conference and approached the foremost expert in lipodystrophy, Dr. Abhimanyu Garg, of the University of Texas Southwestern Medical Center. He agreed to do the test, and a lipodystrophy evaluation.
Jill was right again. Not only do she and Priscilla both have lipodystrophy, but they have the exact same rare subcategory of partial lipodystrophy, known as Dunnigan type.
Priscilla’s and Jill’s typos are neighbors on the same gene. That splinter of distance in location seems to make an extraordinary difference, taking muscle and fat from Jill, but taking only fat from Priscilla while piling on muscle.
Dr. Garg called Priscilla immediately, and caught her at the mall with her kids. “I was just dreaming about getting a juicy burger and fries,” Priscilla told me. She asked if she could call him back after lunch. He said that she could not. “He’s like, ‘You’re only allowed to have salad. You’re on track for a [pancreatitis] attack.’ I was like, ‘Say what?’”
Despite an Olympian’s training regimen, due to her unmonitored lipodystrophy Priscilla had three times the normal level of fat in her blood. “That was a severe problem,” Garg told me. Priscilla had to overhaul her diet immediately, and started medication.
Jill had prolonged her dad’s life, and now—wielding Google Images—spurred a life-altering medical intervention for a professional athlete. “You pretty much saved me from having to go to the hospital!” Priscilla told Jill when she called her.
Even Garg was startled by what Jill had done. They were the most extreme cases of muscle development he had ever seen in lipodystrophy patients—on opposite ends of the spectrum, of course. Jill and Priscilla would never have ended up in the same doctor’s office under normal circumstances. “I can understand a patient can learn more about their disease,” Garg told me. “But to reach out to someone else, and figure out their problem also. It is a remarkable feat.”
Jill did not stop there. She came across the work of a French biologist, Etienne Lefai, a hyperspecialist who studies a protein called SREBP1, which helps cells determine whether to use fat from a meal right away or store it for fuel later. Lefai showed that when the protein builds up in animals, it can cause either extreme muscle atrophy or extreme muscle growth. Jill contacted him out of the blue and suggested that he may have uncovered the actual biological mechanism that makes her and Priscilla so different, SREBP1 interacting with lamin.
“Okay, that triggers a kind of reflection from my side saying, ‘That’s a really good question. That’s a really, really good question!’” Lefai told me in a thick French accent. He has begun investigating whether a lamin gene mutation can alter the regulation of SREBP1, and in turn cause a simultaneous loss of muscle and fat. “I had no idea of what I can do with genetic diseases before she contacted me,” he said. “Now, I have changed the path of my team.”
* * *
• • •
The more information specialists create, the more opportunity exists for curious dilettantes to contribute by merging strands of widely available but disparate information—undiscovered public knowledge, as Don Swanson called it. The larger and more easily accessible the library of human knowledge, the more chances for inquisitive patrons to make connections at the cutting edge. An operation like InnoCentive, which at first blush seems totally counterintuitive, should become even more fruitful as specialization accelerates.
