A recent study suggests that severe combined immunodeficiency (SCID), also known as the bubble boy disease, is more common than previously thought.
SCID is a potentially fatal but treatable disease, which affects newborn children throughout the world. A severe defect in both the T and B-lymphocyte systems is one of the characteristic of the disease, which results in one or more severe infections such as meningitis, pneumonia or other bloodstream infections. Newborn babies may appear normal but they find it difficult to fight infections and unless treated, they can die within a year.
The bubble boy disease is rare and was previously said to be prevalent in 1 in 100,000 births. However, a recent study suggests that the disease is twice as common and is prevalent in 1 in 58,000 births.
The study led by the University of California San Francisco (UCSF) is said to be the first combined analysis of over 3 million newborn children, who were screened for the bubble boy disease in 10 U.S. states and also in the Navajo Nation. The study included infants screened from Jan. 2008 to July 2013.
The study revealed that 92 percent of the children who received early treatment, the most common being a bone marrow transplant, survived. Given the high rate of survival due to early detection of SCID, the researchers highlight the importance of early screening for SCID in newborn children.
"The goal of all newborn screening tests is to identify infants with rare, but treatable conditions so that prompt, life-saving treatment can be given. SCID fits the criteria to be included in newborn screening panels, and now this large study shows the success of implementing SCID screening on a wide scale," says Jennifer M. Puck, a SCID expert, who is also a senior author of the study.
Marcia Boyle, the founder and president of Immune Deficiency Foundation (IDF) applauded the latest study and reaffirmed the significance of SCID screening for newborn children. Boyle screening for SCID not only detects and helps to treat infants with the deadly disease, but it also helps the government to save an estimated $500,000 to $4 million for the diagnosis of the disease.
SCID screening is a part of the routine checks for newborn screening in 24 states including Wisconsin, Massachusetts, California, New York, Michigan, Connecticut, Mississippi, Delaware, Colorado, Utah, Ohio, Washington, West Virginia and more. However, Boyle says that other states should also make the screening mandatory, which was also recommended by the U.S. Department of Health and Human Services in 2010.
The study has been published in the Journal of the American Medical Association (JAMA).
