When babies are born, parents and families are excited to welcome the new member in the family. They often forget that the babies need to be screened even if they look healthy. Some medical conditions cannot be seen by just looking at the baby. Early detection of these conditions can help prevent some serious problems, such as brain damage, organ damage, and even death.
Let us take an example of Galactosemia which is a rare hereditary condition caused by the body's inability to breakdown galactose (a sugar found in milk and milk products). Breast milk and most infant formula contain a sugar called lactose. When lactose is ingested the body breaks it down (digestion) into sugars called glucose and galactose. Before the body can use galactose it must be broken down further with the help of an enzyme. This enzyme (galactose-1-phosphate uridyl transferase) is a chemical that changes galactose into a form the body can use for energy. Ninety five percent of people with galactosemia are missing this enzyme and without it galactose builds up in the body. The high levels of galactose poison the body causing serious damage like a swollen and inflamed liver, kidney failure, stunted physical and mental growth, and cataracts in the eyes.
Screening detects level of galactose and galactose-1-phosphate in the blood by enzyme assay. Once identified, placing the child on a special diet within the first few days of life may prevent the damages. The treatment for galactosemia is to restrict galactose and lactose from the diet for life. Children with galactosemia should be followed by pediatric metabolic specialists and nutritionists.
Thus all prospective parents and families need to be informed, educated and encouraged to screen their newborn soon after the birth.