A doctor's quest
A Baltimore physician devotes her career to an obscure disorder that affects 1 in 20,000 children
Bathed in dim morning light from a small window, the infant lies in a hospital bed at Kennedy Krieger Institute. Like a faint flame, a blood-colored birthmark engulfs the sleeping boy's left eye and spreads up his pale forehead to lick his hairline.
Dr. Anne Comi watches a technician pasting dozens of wires to the boy's scalp. She's betting on those electrodes to tell her if the damage has spread to the boy's tender brain - and whether she might be able to prevent the terrible damage it can do.
At 40, Comi is one of the world's few experts on Sturge-Weber syndrome, an obscure neurological disorder that affects roughly one of every 20,000 children.
She's among a handful of doctors who devote their lives to fighting and treating "orphan diseases," conditions that afflict so few victims that drug companies have no financial incentive to study them.
With relatively little research funding and few patients, she's the scientific equivalent of a captain sailing a tiny boat across an uncharted ocean. As a doctor, she takes on the responsibility for treating desperately ill children whose parents have few places to turn.
"I wanted to do it in a big sort of way," she said of her work. "If my family was going to make the sacrifices, I wanted it to mean something."
Observers of her career draw comparisons to the late Dr. Hugo Moser, a Krieger researcher depicted in the 1992 film Lorenzo's Oil.
Moser, who worked until his death in January at 82, spent his career searching for a cure for adrenoleukodystrophy, or ALD - a rare and potentially fatal neurological disorder that leaves young boys deaf, blind and unable to control their bodies.
His work led to blood tests that allowed an earlier diagnosis, as well as to evidence that Lorenzo's oil, a mix of common olive oil and rapeseed oil, prevented onset of the disease.
"Hugo got this incredible passion about this really rare disorder," said Dr. Gary Goldstein, Kennedy Krieger's president. "Whether Anne can achieve what he did, I don't know ... but she's taking the whole thing on."
Outsiders often assume that Comi's commitment stems from a moving encounter with one endearing child. But like a scientific breakthrough, her journey has been equal parts vision, perseverance and luck.
She considered a focus on autism but found the field crowded with prestigious scientists whose long shadows would be difficult to avoid.
Dr. Michael Johnston, Kennedy Krieger's chief medical officer and a pediatric neurology researcher who supervised her rounds at Hopkins, found Comi's combination of skills and ambition particularly impressive.
"She's unusual in that she combines great intellect and curiosity with great social skills," he said. "And she's got the fire in the belly to make things happen."
Those skills allow her to switch from stern-faced, scientific authority in the lab to cooing caregiver as she handles infants in the examining room.
A disciple of scientific detachment and modesty, she refuses to make broad claims about her scientific findings.
She also refuses to wear a white coat in the examining room, worried that it might distance her from her young patients.
Johnston steered Comi to a 1999 conference on Sturge-Weber sponsored by the National Institutes of Health. She understood the basics of the disorder, but what she learned there caught her attention.
The marks can be disfiguring, and glaucoma can develop in the affected eye.
Far worse, the abnormal vessels can also invade a child's brain. Creeping over its delicate surface like tentacles, the vessels block normal blood flow, starving the delicate tissue of oxygen and nutrients.
As the brain shrinks and hardens, children can suffer epileptic seizures, mental retardation and stroke.
The seizures, which often start during the first year of life, can occur dozens of times a day and last for hours.
At the conference, Comi realized that the harbinger of the disorder, wine-colored facial marks that affect about 1 in 5,000 children, might be their salvation as well. If doctors could determine which children with the birthmarks also suffer from brain involvement, they might be able to protect the brain before seizures start.
Back in Baltimore, Comi started seeing more Sturge-Weber patients at Hopkins, where she was considering a staff position. She was drawn deeper with each wine-stained child she examined.
"The children are beautiful and the families dear," she said. "I fell in love."
But could she piece together a viable scientific enterprise? She still needed the support of a hospital, access to enough patients to produce meaningful research and funds from the few sources available.
The key to attracting patients, she decided, was one-stop shopping, a place where they could see neurologists, eye doctors and skin specialists in one trip.
She sought help from Karen Ball, a New Jersey mother with a daughter who has Sturge-Weber. Ball started the Sturge-Weber Foundation, a patient advocacy group that had helped establish several Sturge-Weber centers around the country.
Ball sensed that Comi was different from other doctors and scientists familiar with the disorder. For them, it was one of several they studied, but Comi was willing to commit everything to solving this one terrible puzzle.
Ball was impressed but concerned, too.
"It's a lot of responsibility," Ball said. "Sometimes when you're young, you think only you can do it."
Still, she offered to help Comi establish a center and to give her access to the foundation's registry of Sturge-Weber patients. The foundation also gave Comi a $30,000 grant to do preliminary research. In 2001, Comi told Ball she felt the pieces falling into place.
"I can do this," Comi recalls assuring Ball - and herself.
She decided that Kennedy Krieger, with its mission to study and treat childhood developmental disorders, would be the right home for her center. But Goldstein, Krieger's president, was skeptical.
"I didn't see how she could make a career out of it," Goldstein said. "I can't say I was encouraging."
Yet he had seen Moser build a great career studying one disease. More importantly, Comi had made up her mind.
"She was persistent," Goldstein said. "I told her, 'I don't quite know how you can pull this off.' She said, 'Well, thank you, but I'm going to do it anyway.'"
She persuaded several specialists at Krieger and Hopkins to work with her - including skin, eye and brain doctors - to treat the various ailments that afflict Sturge-Weber patients.
"I was struck that she was able to get all of these really senior people to work on this," Goldstein said. "You just can't say no."
In 2002, the Sturge-Weber Syndrome Center opened in Baltimore with Comi, then 35, at its helm.
Patients followed, and so did money from foundations, families and the NIH. In addition to treating Krieger patients for other ailments, each week Comi sees about four children with Sturge-Weber, often from out of state.
The disease still takes its toll.
In May 2005, one of her patients, a blue-eyed 5-year-old from Colorado named Hunter Nelson, was scheduled to have half his brain surgically removed in a last, desperate effort to stop his seizures. On the day he was supposed to fly in, Hunter died from a massive seizure.
His picture now hangs in Comi's office, and her organization was renamed the Hunter Nelson Sturge-Weber Center.
This year, Comi began seeing an infant whose seizures started during a family trip to Mexico, where no anti-seizure drugs were available.
The seizures "essentially halted" the boy's mental development, Comi said.
Although her theory is unproven, Comi thinks prompt, aggressive treatment at the first sign of the seizure might have protected the boy's brain and allowed him to develop more normally.
"If they'd met me," Comi said of the family, "they probably wouldn't have gone to Mexico."
She's testing low-dose aspirin as a possible treatment, and she has developed a method to mimic a stroke in mice, paving the way for future studies that can't be done with children.
She's also looking for ways to diagnose Sturge-Weber sooner and more accurately.
"It's become my life," she said. "Other than when I'm with my family, it's what I think about all the time."
The infant sleeping in the hospital bed with wires attached to his head is part of an experiment to see whether an EEG, or electroencephalogram, will allow diagnosis in children before their first seizure.
Ryan McKinney of Frederick has been seizure-free in his first 10 months of life, but the flame-like birthmark is a sign that, if he has the disease, it could reach into his brain.
As his tiny chest rises and falls, the EEG machine scouts the landscape of his mind for the first signs of electrical storms.
The research into the disease is in its early stages, but the test has predicted which children with facial birthmarks will also develop seizures - and might benefit from preventive treatment.
"It's going to take time before I can stand up and say, 'Look, we've proved it,'" she said. "But so far, it's working."
His mother, Kristina Amos, sits beside him on the exam table, a worried expression on her face.
Christian's brown skin makes the birthmark harder to see, but appearances are deceiving: He has been diagnosed as having Sturge-Weber syndrome, suffering seizures and showing signs of developmental delays.
As Comi looks him over, Christian smiles and eats plump grapes, leaving light-purple juice stains down the front of his white T-shirt.
During the exam, Comi notices more signatures of the disorder - his foot turns outward slightly when he walks, and he has stopped gaining weight.
But he's putting words together, and as Comi leans in close and waves her hands next to his face, she finds another sign of improvement.
"He's blinking now, on both sides," she tells Christian's mother. "I think he's seeing more off to his side, so that's good."
Amos brightens at the news that her son's medications might be helping.
"Yay!" she says, raising Christian's hands over his head in a victory cheer.
"Yay," echoes Christian, his chin shiny with grape juice.
Comi smiles and cheers with them at the small sign of progress.
But the moment is fleeting. The exam finished, she hurries down the hall to her next appointment.