Pictures of Scarlett Levine during her first year show a laughing, impish little girl with a halo of blond curls—and bright gold skin. Her defective liver couldn't process bilirubin, a yellowish-orange substance, fast enough to clear it from her blood; hence the gilded look. But her liver would have been fine if her intestinal tract had been normal. Instead, her small and large intestines were abnormally short, a condition called intestinal atresia.
Most children with "short-gut syndrome," a catchall for several conditions that produce a too-short bowel, used to die of malnutrition. They could eat, but their diminished intestinal tract could not extract adequate nutrition. In the 1960s, a nutritional formula was developed that could be pumped right into the bloodstream. Some patients have to stay on it indefinitely; others can abandon it if their bowel grows. But "parenteral nutrition," as it's called, damages the liver in up to 60 percent of children. Babies on it are racing against time: They must be kept on parenteral nutrition long enough for their intestines to grow but taken off it before it destroys their liver.
Promising therapy. Rebecca Gaffney and Jamie Levine had lived in London for 10 years when Scarlett was born in December 2005, six weeks ahead of her due date. Long before then, a sonogram had revealed that her intestines weren't developing properly. She was whisked off to surgery after birth and eventually underwent several procedures to lengthen her intestinal tract and modify it so she could eliminate waste more easily. Throughout this time, she received parenteral nutrition through a central line in her chest. But she was never well enough to leave the hospital, and when her liver began to fail the summer after she was born, her prognosis turned grim.
As the family's hopes faltered, Jamie's mom happened upon a brief newspaper story about a promising new therapy at Children's Hospital Boston that halted and even reversed the liver damage in kids like Scarlett. In teasing out the toxic part of the parenteral nutrition, two surgeons and a pharmacist at the hospital discovered that it was the soybean oil in the formula. When surgeon Mark Puder and pharmacist Kathleen Gura substituted fish oil, the damage was halted and the liver began to heal.
Omegaven, the fish oil product that the Children's team was working with, had been approved in Europe for adults but not for children and not at all in the United States. The Food and Drug Administration gave the hospital permission to use it under compassionate-use guidelines, which make unapproved treatments available for very sick patients. But Scarlett's London doctors refused to try it, citing the lack of pediatric approval.
The couple called Puder, who thought he could help Scarlett—but it had to be done quickly to avoid irreversible damage. Last fall, the family rented a Boston apartment and, after several months, relocated entirely. Scarlett's bilirubin remained far too high after four months, a sign that her liver function hadn't improved. Then the level began to drop. Puder was a constant presence throughout, say Rebecca and Jamie, although by then he was treating dozens of children with Omegaven. The rest of the staff was equally attentive and caring. "We went because of the treatment," says Jamie, "but we stayed because of the hospital."
Since 2004, 87 children have been given Omegaven. In the March issue of the journal Pediatrics, Puder and his colleagues reported that babies who received Omegaven regained normal liver function in a median of nine weeks, a fifth as long as children on soybean oil emulsions whose livers recovered with normal nutrition. Several institutions now use Omegaven for children, says Puder, but many do not. "These patients are just basically being sent to their deaths," he says. He is conducting a clinical trial to quantify Omegaven's effectiveness at preventing liver injury with parenteral nutrition.
A little less than half of Scarlett's nutrition now comes from normal food. "We don't even think about her liver anymore," say her parents. The treatment is too new for long-term predictions, but for now, all is well, and Scarlett, you might say, is golden.