A doctor's quest

A Baltimore physician devotes her career to an obscure disorder that affects 1 in 20,000 children

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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.

Difficult path

After earning a medical degree from the State University of New York, Buffalo in 1993, she came to Baltimore for a pediatric neurology residency at Johns Hopkins Hospital. There she resolved to be a doctor-scientist, a demanding dual career, but one in which she could simultaneously treat patients and attack a medical mystery.

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.

Wine-colored marks

She knew that the birthmarks result from abnormal capillaries growing under the surface of the children's skin.

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."

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