June 5, 2010, was the worst day of Melanie and Paul Turano’s lives. Their second child, Nicholas, had been born the day before, and instead of being shown off to family members, the 7-pound, blond-haired, blue-eyed baby was put in strict isolation at Newton-Wellesley Hospital.
A newborn screening test had revealed that Nicholas had severe combined immunodeficiency, a rare genetic illness known as “bubble boy disease.” His body's immune system was so weak that everyday germs could kill him.
But eight weeks later, a transplant of stem cells from a German woman rebuilt the boy’s immune system and saved his life. That success underscores the results of a New England Journal of Medicine study published Wednesday and led by Boston researchers, which found that children with the immune disorder who received stem cell transplants within 3½ months of birth had the highest rates of survival.
The authors said their research highlights the importance of including testing for severe combined immunodeficiency in the battery of disease-screening tests every baby undergoes in the hospital.
Without testing, children may not be diagnosed with the disease until they are older, after developing an infection they cannot fight off.
“Many babies would be saved if they were all screened [for severe combined immunodeficiency] at birth,” said Dr. Sung-Yun Pai, lead author of the study and a pediatric hematologist and oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “The longer the baby goes without transplantation, the greater the risk they will contract an infection and die.”
Twenty-one states, including Massachusetts, currently test for the genetic disorder, with nine more expected to do so by the end of the year. The federal Department of Health and Human Services recommended that all states add the disease to newborn screening in 2010.
Physicians previously believed the disorder affected one out of every 100,000 babies, but newborn screening data suggest it is about twice as frequent. Some babies who died of unexplained infections probably had the disease, Pai said.
Many people learned about severe combined immunodeficiency through David Vetter, a boy with the disorder who lived in a specially constructed, plastic germ-free bubble in the 1970s and 1980s until he died at age 12. His story was popularized in a movie starring John Travolta.
Children with the disorder are highly susceptible to infections and often die of common diseases, such as pneumonia, before they reach a year old, doctors say. Transplantation becomes extraordinarily difficult if an infection is still active, Pai said, with substantially lower chances of survival.
In the new study, researchers analyzed data from 240 children with severe combined immunodeficiency across the country who underwent stem cell transplants from 2000 to 2009.
Overall, 74 percent survived at least five years, but survival was significantly higher among children transplanted before they reached 3½ months, with 94 percent of those infants surviving. Infants older than 3½ months who had infections at the time of transplantation had the lowest survival rate, at 50 percent.
Tests for the disorder usually cost an additional $5 to $10, a small price compared with the lifetime costs of living with the disease, said Anne Comeau, deputy director of the New England Newborn Screening Program.
“SCID is one of the best success stories ever,” Comeau said.
The genetic disorder often runs in families, but many people do not know they carry the gene. Melanie and Paul Turano, who live in Canton, have no history of the disorder in their families, Melanie Turano said, but they discoveredthat they both carry the gene after their daughter began having infections.
When Lia was 16 months old, she began having severe eczema and recurrent skin rashes. Doctors found that Lia had the same genetic mutation that causes severe combined immunodeficiency, even though parts of her immune system still function normally. Now 5 years old, she receives monthly blood transfusions that take three hours, a procedure she may have to endure for the rest of her life.
Lia was born before Massachusetts implemented testing for severe combined immunodeficiency in 2009.
“If Massachusetts had done this type of testing when my daughter was born, we would’ve known right away, and who knows what would have happened if they had transplanted her when she was a baby,” Turano said. “It was the best thing that could have happened to [Nicholas] that he was diagnosed at birth.”
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