Mary Krupski clearly remembers the doctor's voice on the other end of the phone saying, "I don't have anything good to tell you." She and her husband, Brian, had noticed that their then 2?-year-old son, Joseph, bruised easily, and he'd had a series of tests a few weeks earlier when he had a seemingly innocuous bump removed from his elbow. "We didn't even know that any more test results were coming," she says.
But a test revealed that Joseph had a rare disease called myelodysplastic syndrome (MDS), which was preventing the stem cells in his bone marrow from producing red and white blood cells. The Krupskis had never heard of MDS, which strikes between 10,000 and 15,000 people annually, mostly adults. Redheaded, rambunctious Joseph didn't even look sick. Meeting with doctors at Children's Hospital Boston, three hours from their home, in Essex, Vermont, the Krupskis learned how aggressive Joseph's MDS was. "They said the only cure would be a bone-marrow transplant to replace his abnormal stem cells," Mary recalls, "and that without it he would probably die within two years."
Bone-marrow transplants, which have been performed for 40 years, require an exceptionally close genetic match between the patient and donor. Otherwise, the immune cells being introduced recognize the patient's body as "foreign" and reject it. The best matches for a bone-marrow transplant are usually siblings, but only 25 percent of patients have a brother or sister with a compatible tissue type. Joseph's two sisters, Allie and Katey, then 8 and 6, were tested but weren't a match for him, and neither were his parents. The hospital launched a needle-in-a-haystack search to find a donor through the National Marrow Donor Program (NMDP)'s Be The Match Registry of 8 million people who have volunteered to give bone marrow.
Mary, who had once worked as a clinical-trials coordinator at a breast-cancer center, and Brian, a medical-software developer, began reading online about the latest research that was happening at pediatric transplant centers. That's when they learned more about recent advances with umbilical-cord blood, an alternative source of stem cells that was being used at a few other hospitals.
When Joseph was born, the Krupskis hadn't paid to store his own cord blood with a private bank. But even if they had, the stored cells would have contained the same genetic defects of his disease -- and would have needed to be discarded. In fact, most children with a blood disease can't be treated with their own cells, according to the American Academy of Pediatrics, which recommends against private cord-blood storage except for newborns who have a sibling with a condition that could benefit from cord-blood transplantation.
Thankfully, there are also public cord-blood banks, which store potentially lifesaving stem cells that have been donated by parents. "Cord blood doesn't need to be matched as closely to a patient as bone marrow does," explains John Wagner, M.D., director of the division of hematology-oncology and blood and marrow transplantation at the University of Minnesota Amplatz Children's Hospital, in Minneapolis. "There's something unique about the immune cells in the placenta and the baby's umbilical-cord blood that reduces the risk of graft-versus-host disease, the complication that results when the donor cells reject the patient," says Dr. Wagner, who helped pioneer the use of cord blood in the 1990s.
The Krupskis read about his work and flew to Minneapolis to meet him. What moved them most was the fact that cord blood was available immediately because it was already in the bank -- whereas it could take months for a bone-marrow donor to be found and then have a marrow-extraction procedure. They went home and packed up their entire family in March 2006 to move to Minnesota for the duration of Joseph's treatment.