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.”
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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.
It isn’t just the increase in new knowledge that generates opportunities for nonspecialists, though. In a race to the forefront, a lot of useful knowledge is simply left behind to molder. That presents another kind of opportunity for those who want to create and invent but who cannot or simply do not want to work at the cutting edge. They can push forward by looking back; they can excavate old knowledge but wield it in a new way.
CHAPTER 9