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...
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 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.
Could Jill have not just one, but two incredibly rare genetic diseases? The odds of having Jill’s Emery-Dreifuss were so rare that the prevalence isn’t even known; certainly more rare than one in a million. The odds of having partial lipodystrophy are probably somewhere between one in one million and one in 15 million. The odds of separately getting both by chance alone? It was one in far more than the number of people who have lived on Earth, ever.
Jill attended a medical conference at Hopkins during her internship, and, as she had with Emery-Dreifuss, she showed photos to doctors and told them she thought she had partial lipodystrophy. Just like before, they assured her it wasn’t the case. They jokingly diagnosed her with something a lot more common: intern syndrome. “Where you have a medical student being introduced to a lot of new diseases,” Jill says, “and they keep thinking they have what they’re reading about.”...
Later that week, Jill’s younger sister Betsy pulled Jill over to the computer to show her a picture.
People often asked Betsy what kind of workout she did, because the muscles in her arms were so well defined. But it wasn’t from the gym. Betsy’s arms had always been defined, and as she grew up, she wanted to know why. Jill told her she might want to look into lipodystrophy, but that doctors had told her years ago that she didn’t have it. Betsy attended a meeting for people with lipodystrophy, and there learned about an Olympic sprinter who was conspicuously missing fat. The picture Betsy showed Jill was, of course, Priscilla Lopes-Schliep...
It was the third time Jill had made a visual lock on something rare. First, it was with her family’s Emery-Dreifuss, then when she thought they had lipodystrophy, and now she thought that she and Priscilla just must have a mutant gene in common because of the exact same pattern of missing fat. But how, then, did Priscilla get a double-helping of muscle while Jill’s muscles were scarcely there?
“This is my kryptonite, but this is her rocket fuel,” Jill says. “We’re like comic book superheros that are just as divergent as can be. I mean, her body has found a way around it somehow.”...
And when Priscilla walked in, Jill’s first thought was “Oh my gosh, it’s like seeing family.”
Priscilla felt the same way. “It really was just a wow moment,” Priscilla says. “Like, do I know you?” The two women started flexing for one another. Priscilla’s muscles many times larger, but with the same definition exposed by a lack of fat. They even retreated to a hallway in the hotel to compare body parts. “There is something real here,” Priscilla recalls thinking. “Let’s research. Let’s find out. Because how could the gene do this to you and this to me? That was what my question was. How?”
Jill offered Priscilla a cashier’s check, money that had been raised for research in a memorial fund after her father’s death. Jill hoped Priscilla would take it and use it to pay for a genetic test. And Priscilla agreed.
It took a year to find a doctor to test Priscilla. She visited several clinics. Some told her they just didn’t do that test. Others said they weren’t sure how to interpret the results, so they felt it wouldn’t be responsible to do the test.
Finally, Jill went to a medical conference and approached the foremost expert in lipodystrophy, Dr. Abhimanyu Garg, who runs a lab at the University of Texas Southwestern Medical Center. He agreed to do both genetic testing and a lipodystrophy evaluation.
The results showed that Jill had been right. She and Priscilla do have a genetic connection. Not only do she and Priscilla both have lipodystrophy — the disease Jill had been told to cast aside back when she was an intern at Johns Hopkins — but they have the exact same subcategory of partial lipodystrophy, known as Dunnigan-type.
And Priscilla did indeed have a mutation on her lamin gene. Both women have a typo on the same one of their 23,000 genes. Priscilla’s is not the exact same “single-letter” typo that Jill has, though; it’s a neighbor typo. That splinter of distance in typo location seems to makes the difference. It’s why Jill has Emery-Dreifuss and Priscilla has fantastic musculature. (That said, there are people with Priscilla’s exact genetic typo who have both fat and muscle wasting.)...
Despite her monstrous training regimen, Garg informed Priscilla that, due to her unmonitored lipodystrophy, she had three times the normal level of triglycerides, or fat in her blood...
In other words, Jill had once again helped steer someone away from a medical disaster. She had prolonged her dad’s life, and now — once again with that cutting-edge medical tool Google Images — she caused the most intense medical intervention that a professional athlete had ever had. Priscilla called Jill to tell her. “I was like, ‘You pretty much just saved me from having to go to the hospital!’” Priscilla says. “Dr. Garg told me I have the gene and my numbers are out of the roof.”
Even Garg was startled by what Jill had done. “I can understand a patient can learn more about their disease,” he says. “But to reach out to someone else, and figure out their problem also. It is a remarkable feat there.”
Courtesy of a colleague