What mother wouldn't want her children healthy?
Few wanted it more badly than Jennifer Sawyers.
Bea was 15 months old when Sawyers noticed that her daughter, barely 20 pounds, had started dropping weight, losing over 10 percent of her weight. She also had thrush on her tongue.
Sawyers took Bea to the emergency room, where doctors discovered she had a kidney infection and her white cell count was low. That set off alarm bells. After more blood work, Bea was diagnosed with Severe Combined Immunodeficiency Syndrome (SCID).
SCID is the name for a group of rare and potentially fatal genetic disorders that impair T- and B-lymphocytes, crucial for fighting infection. SCID patients are susceptible to different types of infections, from ear infections to pneumonia. According to the National Human Genome Research Institute, children with untreated SCID rarely live past the age of 2.
It turned out that both Sawyers, 33, and her husband Andar, 31, carry the recessive gene that causes SCID, even though the odds were low. "I was told there was a one in 200,000 chance that both parents have this same recessive gene," Sawyers said.
Sawyers was pregnant with her second child, Grace, then and was told Grace had a 25 percent chance of also getting SCID.
Unhappy with the medical treatment they were getting in Los Angeles, where the Sawyers were living, they decided to move to Durham and take Bea to the Duke Pediatric Blood and Marrow Program headed by a pioneer and renowned expert in the field, Dr. Joanne Kurtzberg.
"A friend of ours who studied with Dr. Kurtzberg recommended that we check out the Duke facilities." Sawyers said. "We looked online at what their philosophies were, as far as treatment goes, and it was a no-brainer. They wanted parents to be involved; the parents can stay overnight. It just sounded like a much better alternative."
At Duke, the good news was Kurtzberg found Bea had a less severe type of immune disorder, CID, than was originally diagnosed. The bad news was that it was still dangerous.
"She was stable, but we knew she had a condition that could take her life if it wasn't treated, she'd already had some serious infections, and she wasn't growing well," Kurtzberg said. Depending on which infection she acquired, Bea might have lived on for a few months to a few years, she said.
Sawyers said Kurtzberg recommended cord blood transplant as the best option for Bea and hoped that Grace, who was born after the couple moved to Durham, would be a match for her sister. But Grace wasn't. She had the same condition. That meant the alternative was unrelated cord blood transplant.Cord blood
Cord blood is the blood that remains in the placenta and umbilical cord after it has been cut. It contains stem cells that can be used in a variety of medical treatments. Cord blood is less likely to be rejected by the recipient and does not need a 100 percent match to be suitable, Kurtzberg said. Unrelated cord blood donated after delivery is stored in cord blood banks such as the Carolinas Cord Blood Bank, where Kurtzberg is its director.
Each donation of blood from both the placenta and umbilical cord is considered a unit, and in children one unit of 4 to 6 ounces is typically transplanted, like a blood transfusion. Mothers at participating hospitals, such as Duke and Durham Regional Hospital are asked if they'd like to donate the cord blood which would have been discarded anyway.
Kurtzberg said more than 90 percent of those asked say yes to donating. But there is a need for more public units of cord blood to be banked.
"The estimates are that we probably need somewhere between 150,000 and 500,000 more units to be able to find matches for everyone," she said. Money is also needed to process the donations, such as testing the blood and banking it, as federal funds only cover a third of the costs per unit banked.
Kurtzberg performed the nation's first unrelated cord blood transplant at Duke in 1993. Since then, between 800 and 900 unrelated cord blood transplants have been done there, while more than 30,000 transplants had proceeded worldwide, she said.Normal lives
Before their transplants in June last year, Bea and Grace went through chemotherapy to ensure their bodies would not reject the unrelated cord blood transplants. Both girls were hospitalized for two months for the entire course of the treatment, Sawyers said.
Today, Kurtzberg has glowing reports of both girls' progress.
"They are cured of their underlying condition, they don't have immune deficiency anymore and they haven't had any complications of the treatment. They really should be able to lead normal lives," Kurtzberg said, although their progress will be monitored.
Sawyers was overjoyed when she was told Bea could enroll in preschool this fall.
Her daughters' recovery convinced her to be a cord blood donation advocate for the National Marrow Donor Program's Be The Match Foundation this Mother's Day, so that mothers like her would be able to continue celebrating it with their kids.
"I felt so blessed and so thankful that this all worked out. I feel like in any way I can to help give a new chance of life, you know..." Sawyers said, overcome with emotion and breaking down in tears. "It's so easy to do."