![]() Other conditions appearing in a minority of the patients include diarrhea, rashes and HPV infection. In addition, about 10 percent had some sort of developmental delay and about 20 percent had attention deficit disorder, often due to the lack of an enzyme called adenosine deaminase, one of the causes of SCID. ![]() Investigators found that 58 percent of the children needed periodic antibody therapy because of inadequate B cell function, and about one-third required antibiotics. Still, growing up with a corrected immune system is not always a sunny experience. In the Duke study, 77 percent of the children survived and 86 percent of those were considered healthy by their parents, says Buckley. So far, the only states to perform it are Wisconsin and Massachusetts, which are conducting pilot studies. "Babies frequently die from infections, but no one thinks about SCID," Buckley says, "and autopsies are rarely done any more, so the death certificate simply lists 'infection' as the cause." Buckley believes SCID may actually be as prevalent as PKU, an inherited metabolic disorder that is routinely identified and treated through newborn screening.īuckley has been advocating for over a decade about the need for routine screening for SCID in newborns. SCID is described as a rare disorder, but Buckley points out that no one really knows how often it occurs because testing for the condition at birth is not done. There are at least 13 subtypes of SCID, but all arise from genetic mutations that are either inherited or arise in the infant. ![]() But if they are older or if they have already developed an infection, only 71 percent will live." When we transplant these babies prior to the onset of infections, 94 percent survive. "If we can identify children with SCID at birth, we can save more lives. The study involved periodic questionnaires and visits to Duke for reassessment of various aspects of their lives, including immune function, growth, behavior, nutritional needs, mental, physical, and emotional well-being and any trouble with recurrent infections.īuckley says the data clearly show that SCID infants who receive a related donor bone marrow transplant within the first 14 weeks of life are significantly more likely to survive and have fewer problems over time than those who receive transplants later in infancy or who have already developed an infection.īuckley says the findings underscore the need for SCID testing at birth. Buckley, M.D., professor of pediatrics and immunology at Duke, researchers followed for up to 26 years 110 of the 124 surviving SCID children out of the 161 who had come to Duke for bone marrow transplants. That conclusion comes from the longest and largest study to date of children with SCID treated at a single center. Since David's death however, researchers have refined treatment options for children with SCID, and today, as scientists at Duke University Medical Center report in The Journal of Pediatrics, most of them who undergo related donor bone marrow transplants manage to grow up, go to school, and for the most part, lead pretty normal lives.
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