11/06/2000 at 01:00 AM EST
In the toy-jammed playroom of her Portsmouth, Va., home, 4-year-old Hannah Gosey gears up for her favorite game. Dressed in a toddler-size surgical gown, she prepares to administer an injection to sister Cassidy, 2, who reacts with a wail. Hannah's mother, Kim, 31, a supervisor in a pediatric practice, says her daughters have a special name for this game: Dr. Kurtzberg.
As in Dr. Joanne Kurtzberg, the physician whom Kim and David Gosey credit with saving both of their daughters from a rare genetic disease they were told was surely fatal. Quite simply, says Kim, "she gave us our kids back." A cancer researcher at the Duke University Medical Center in Durham, N.C., Kurtzberg, 49, uses a revolutionary procedure she helped pioneer: a cord-blood transplant in which donor blood from a newborn's umbilical cord and placenta is used to replace bone marrow in patients with genetic defects or cancer, whose bone marrow has been destroyed by high doses of radiation or chemotherapy. The stem cells—which generate red and white blood cells—effectively assume the marrow's normal task of continuously replenishing the body's blood supply.
Since Duke doctors performed the first unrelated cord-blood transplant in the U.S. in 1993, the procedure has helped save the lives of as many as 500 patients worldwide. A driven researcher with a rare gift for comforting kids, Kurtzberg and her team have performed the procedure more than 300 times. "By the strength of her will she has made this program a reality," says Dr. Paul Martin, associate clinical director of Duke's stem-cell program, which does a quarter of all U.S. cord-blood transplants. "It has given kids hope who had none."
Until just a few years ago umbilical cords and placentas were routinely discarded because they were thought to have no medical benefit. In the 1980s researchers at Duke and New York City's Memorial Sloan-Kettering Cancer Center and Rockefeller University discovered that cord blood is a rich source of stem cells. Two other strong pluses: The cells are much easier to gather than actual bone marrow, which must be extracted from a donor under anesthesia; and unlike bone marrow, donor cord blood need not be a perfect genetic match. The actual transplant takes only 15 to 30 minutes as cord blood, stored frozen and then thawed before surgery, is infused into the patient's veins. Still, recovery can take months, and the success rate is only about 50 percent. "But we are helping kids," says Kurtzberg, "who had no options three or five years ago."
Kids like Hannah Gosey, who was skinny at birth and suffered from a constant runny nose, cough and other symptoms. At 4 months, she was diagnosed with Hurler Syndrome, a genetic disorder in which the body lacks an enzyme important for brain development. A neurologist told Kim and David, 33, a pipe fitter on Navy ships, that there was no cure and that Hannah would likely die by age 10. "It scared the life out of us," says Kim. But they found hope with Kurtzberg, who in February 1997 gave Hannah a cord-blood transplant. Within months the girl had recovered sufficiently to be discharged, then battled back from anemia to emerge healthy 10 months later.
The Goseys weren't finished. When Kim became pregnant again, an amniocentesis showed that the new baby had the same condition. So in September 1998, just three months after her birth, Cassidy also received an infusion of cord blood. It saved her life. "I feel very lucky I've got them," Kim says of her children.
Equally fortunate is Alexandra Martini, who was born in Concord, Calif., in 1998 and diagnosed at 10 months with a rare form of leukemia. Chemotherapy proved unsuccessful. Then her parents, Andrea, 31, a homemaker, and Todd, 35, an Internet consultant, heard about the cord-blood program. In October 1999 Kurtzberg administered a transplant. Alexandra recovered but suffered a relapse. Kurtzberg adjusted her medication and transplanted more blood from the original donor last July, and the girl's leukemia quickly went into remission. "She has gone long enough that I think she's going to be okay," says Kurtzberg.
Such high-stakes medical pursuits were not what Kurtzberg envisioned for her life when she was growing up in Bayside, N.Y. The oldest of three children of Lawrence Kurtzberg, who owned a stationery store and died in 1997, and his wife, Edythe, now 75, a former teacher, she first aspired to be a pianist. Realizing she was too shy to perform in front of people, she studied child psychology at Sarah Lawrence College and resolved to go on to medical school. It was during her pediatric residency in Syracuse, N.Y., that she became fascinated with hematology and oncology, which married her interests in medicine and psychology. "It combines complicated medicine," she says, "with long-term relationships with families where you can do a lot more than medical care."
In 1980 Kurtzberg's first marriage to a fellow physician ended after the couple moved to Durham, where she did cancer research. When he wanted to leave Durham for another job, she says she told him she was staying. Eighteen months later she married another doctor, Henry Friedman, 48, now chief of Duke's division of pediatric neurology-oncology. "We were mirror images in the way we approached medicine," says Friedman, who has had Josh, 17, and Sara, 13, with Kurtzberg. "Joanne has great, caring, monstrous talent, and she's a fun person to be with."
Kurtzberg was an assistant professor of pediatrics in Duke's oncology division in 1983 when she began researching stem cells and found that they were present in much higher frequency in cord blood than in bone marrow. That led to the hope that cord blood might be useful in fighting cancer. "There was a lot of skepticism," she says. "Most hematologists and oncologists who do transplants on adults told us that it wasn't going to work."
She finally got to test the theory in 1988, when patient Matthew Farrow, then 5, came to her suffering from Fanconi's anemia, in which cells cannot repair their DNA, a condition that usually leads to bone-marrow failure or cancer. Kurtzberg arranged for Matthew to undergo the transplant in France—where doctors had more experience with the disease—using blood from his baby sister's umbilical cord. It worked, and Matthew, now 17, is thriving.
Forever grateful for Kurtzberg's medical prowess, Matthew's mother, Shirley, of Salisbury, N.C., is just as impressed with the physician's bedside manner. "I've seen her sit down on the floor with those kids," she says, "get eye to eye with them and talk to them." Just 5 ft. tall, Kurtzberg wears colorful overalls and uses plain language. "She bonds with these kids," says Andrea Martini. "She lives for them and it shows."
Yet her playful nature belies the constant emotional stress Kurtzberg battles in working with patients who often have no options but what she has to offer. "No matter how hard we try, children die," she says. "The children who are survivors inspire me to keep trying and never give up."
Giovanna Breu in Durham