Early detection is key.
The disorders are rare, however, an affected baby is at risk for mental retardation, developmental problems, or even death if problems are not diagnosed and treated early. Because these disorders are rare, they are difficult to diagnose in babies that are not screened. Some babies have to endure months of testing or intensive care before the problem is discovered. In a thirteen-year study in Wisconsin, researchers evaluated 600,000 newborns and concluded that patients who received early treatment experienced a dramatic improvement in growth and development compared to a group that did not receive treatment early. Moreover, according to the study, a delayed diagnosis in infants born with CF could contribute to lung disease, severe malnutrition, or even death.