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.
Public cord-blood banks first began flourishing in 2005, when President Bush signed the Stem Cell
Therapeutic and Research Act. The legislation restricted research on embryonic stem cells (which come
from a frozen embryo that ultimately gets destroyed) but also devoted $79 million to expand the nation's
cord-blood reserve for transplants and research. When parents decide to donate their baby's cord blood, a trained technician extracts about 3 teaspoons of blood minutes after the cord has been cut. Later, the blood
is tested for various infectious and hereditary diseases. Today, there are 19 public banks in the country
storing 160,000 units of cord blood at -196?C, which are available for anyone in the world who needs a transplant.
Cord blood is used primarily to treat children because one unit sometimes doesn't contain enough stem cells to be effective in an adult's larger body. Nearly 2,400 children have undergone cord-blood transplants so far,
500 of them last year. (In comparison, the NMDP was able to facilitate more than 4,000 marrow transplants
in 2010 in children and adults.)
Even though a transplant could save Joseph, his parents knew that the entire treatment process was very
risky. He first received high-dose chemotherapy and full-body radiation to destroy all the abnormal cells in
his body. Because this wiped out his immune system, he had to spend nearly four weeks in a hospital room
with purified air. "We left our shoes at the door, and wiped everything we could to avoid spreading germs," Mary recalls. She and Brian alternated sitting with Joseph, reading books and playing on a laptop with him,
and taking care of the girls at the nearby Ronald McDonald House, where they also went to school.
Finally, Joseph received the cord-blood transplant through an IV into a large blood vessel in his chest. The
stem cells miraculously travel through the bloodstream to reach the bone marrow, where they begin
producing healthy blood and immune cells. Still, the first 100 days after a transplant are critical. Vulnerable
to reactions and infections, Joseph stayed in the hospital for three weeks, and then he was allowed to live at
the Ronald McDonald House with his family (wearing a face mask at all times). The first biopsy test of his
bone marrow showed that 100 percent of the cells were the healthy donor cells, but a month later 10 percent of the cells were his own. Then he developed a high fever and a rash, signs of major complications including
graft-versus-host disease -- and a recurrence of his illness.
This was a devastating blow. His MDS had now advanced and evolved into a form of leukemia. Based on
the literature that had been published on the condition at the time, Dr. Wagner says, Joseph's odds of
survival were zero. Mary had met other parents who'd lost their children and regretted that they hadn't
talked with them about death. So she sat with Joseph and held his hand. "I told him that God might have a
plan that he would go before us and be in Heaven with Jesus, and we would see him later, and that would be okay because he would be loved and he would be healthy. I didn't know if he understood because he was so sick and so young."
Joseph's only hope was a new strategy that Dr. Wagner had recently developed. Because he was so fragile, Joseph would have a less intense round of chemotherapy and radiation followed by a double cord-blood transplant -- meaning he would get two units of cord blood from two different babies. Having more stem
cells from two donors would offer a better opportunity for one type to thrive and produce new cells.
He got the second transplants in September, and the 100 days of waiting had to start all over again. Joseph stayed on a ventilator for a week, and because it prevented him from talking, he used hand signals to communicate with his parents. "We were amazed that he wasn't freaking out," Mary says. At one point, his fever spiked to 105?F, and his blood pressure and heart rate dropped alarmingly, but after three months he
was stable enough to return to the Ronald McDonald House.
The first biopsy showed that his marrow contained 50 percent of cells from each donor, but the next month
one donor type had taken hold and increased to 90 percent. Two months later, Joseph's marrow contained
100 percent donor cells -- which meant that the transplant was a success. Ten months after his first treatment had begun, he was healthy enough to go back to Vermont. "We were all home for Christmas, and it was
incredible," Mary remembers.
Four years later, Joseph is healthy and about to start third grade. Although the doctors prefer to say he's in remission because there's always a possibility that his disease could come back, "to us, he's cured," Mary
says. All the time he spent in isolation at the hospital -- as well as the following year when he had to stay
home to avoid germs -- has made him especially enthusiastic about playing with friends. "He'd be with
them around the clock if he could," says Mary.
The Krupskis keep a photo album of Joseph's treatment, and one of the pages has the labels from the cord-
blood units he received. Because of donor-confidentiality rules, all they know is that the stem cells that took hold came from a baby boy who would be about 9 years old now. "We're so thankful to any parents who
donate their baby's cord blood," Mary says. "Joseph would have died if he didn't have a transplant within a short period of time that second time around. We still feel as grateful for his life today as we were on the
day he was released from the hospital."
New awareness campaigns are encouraging parents to donate these potentially lifesaving cells, and there is a particular need for donations by parents of diverse ethnic and racial backgrounds. The National Marrow Donor Program's goal is to add an additional 150,000 units to the national inventory.
Parents have only been able to donate their baby's cord blood to a public bank if they deliver at one of about 200 hospitals that have an affiliation with a local public bank. (To see if your hospital is on the list, go to bethematch.org/cord. You must contact your doctor before your 34th week of pregnancy.) However, a new
pilot program -- at Duke University, in Durham, North Carolina; the M.D. Anderson Cancer Center, in
Houston; and the Texas Cord Blood Bank, in San Antonio -- is providing a special free mail-in kit for
parents anywhere who want to work with their doctor to donate their baby's cord blood. For information,
call 1-800-627-7692 at least six weeks before your baby is due.
In addition, through Cord Blood Registry's Designated Treatment Program, families who have an older child with a life-threatening disease that is treatable by donor cells can store their newborn's cord blood for free in a private bank. Go to cordblood.com for more information.
Originally published in the August 2011 issue of Parents magazine.
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