The parents had brought their baby girl home only four days ago when they received an urgent call from the hospital asking them to bring the baby right back for more testing. That was the easy part. It seems that the initial test indicated the baby had almost no T-cells which are major components of the immune system. This can be a sign of severe combined immunodeficiency (SCID). SCID is usually the result of a genetic mutation. It affects 1 in approximately 58,000 babies.
The doctors attempted to reassure the parents that the results were probably from a false positive reading. In any event the physicians could not continue processing the normal series of vaccinations until they had results of the test. Otherwise, it would expose the baby to medicine that contains live virus. The parents waited two weeks for the retest results. Fortunately, it was a false positive test, and the baby was fine.
Advice from the Centers for Disease Control and Prevention
Early detection and diagnosis through newborn screening can prevent disability or death.
Millions of babies are screened each year in the United States using just a few drops of blood from the heel of the newborn. The tests are created to detect, prior to the baby’s leaving the hospital, various genetic, metabolic, and hormonal disorders. In addition, newborns are tested for any loss of hearing, as well as critical congenital heart defects.
Medical Advances
Most young children with immunodeficiencies, until recently, were diagnosed when they were six months or older, causing repeated infections and early death. Now with the advent of newborn screening, which in many states leads to early intervention, children have options such as bone marrow transplants and even gene therapy. However, SCID must still be treated as a pediatric emergency as the child’s body is not able to defend against pneumonia, chickenpox, or other infections.
If the disease is not diagnosed, babies with SCID generally die from an infection within a year. The situation is reversed when SCID is diagnosed, giving babies an 80-95% chance of survival. Overall infant mortality in the United States has been reduced from 20 in 1000 live births in 1970 to 5.6 per 1000 live births in 2022. Although SCID is too rare to show up in mortality statistics, the progress that has been made in detecting it is mirrored in many other rare diseases. This can also be said of the improved care that is now given to premature babies.
