Do you know that there silent diseases which can occur rarely but are potentially fatal? We call them ‘silent diseases’ because they are not apparent at birth. Yet, as the baby grows up, his normal physical and mental development is delayed or stunted, leading to severe mental retardation, growth deficiency, immune system impairment, poor muscle control, blindness, and even death.

Many of these diseases are inherited metabolic disorders, wherein the baby lacks a specific enzyme or hormone needed for chemical process to occur within living cells of the body. Because the signs and symptoms of these disorders are not evident during the early years of the child’s development, diagnosis comes late usually only after mental retardation has already kicked in. But this was then.

Researchers have developed blood tests that screen newborns for these disorders. Such scientific effort was made after experts found out that early detection of every disease will actually offer babies some long-term benefits. This is known as the newborn screening.

Within 48 hours of the baby’s birth, the heel of the baby is pricked to obtain a small sample of blood which is then placed on a piece of filter paper, allowed to dry, and sent to a laboratory for testing. The result of this screening test will take weeks. The manner of reporting the result of the test depends on the examining laboratory, but most of the time, the lab will call the physician in the case of abnormal results, while normal results will be sent through mail. If the test results come back abnormal, your baby will still undergo a confirmatory test through blood sample. Try not to panic because false positive results are possible, which most of the time, turn out to be normal after further testing.

When test results show that the baby has a birth defect, early diagnosis and treatment can make the difference between lifelong disabilities and healthy development. Take for instance the following conditions:

Congenital hypothyroidism. Most commonly identified by routine screening, affected babies don’t have enough thyroid hormone so that they develop slowing of growth and mental retardation. If detected early, the baby can be treated with hormone replacement and baby grows normally.

Phenylketonuria (PKU). Babies with this disorder can not process the amino acid phenylalanine which is present in almost all foods. This leads to the build up of phenylalanine in the blood, which causes brain damage. If detected early, the baby will be saved from mental retardation by simply putting the child on a low-phenylalanine diet by cutting out all high protein foods.

Galactosemia. Babies having this disorder can not convert galactose (sugar found in milk) into glucose in order to be used by the body. Galactose builds up causing blindness, mental retardation and even death during infancy. This can be prevented by just eliminating milk and other dairy products from the baby’s diet.

Sickle cell disease. This is an inherited blood disorder wherein the baby’s red blood cells assume abnormal shapes causing damage to vital organs, and placing the baby at risk for life-threatening bacterial infections. If detected early, doctors are alerted to begin antibiotic prophylaxis before infections set in.

Congenital adrenal hyperplasia. Babies with this disorder lacks hormones that can affect the development of external genitalia. Babies can also die due to loss of salts in the kidneys. If diagnosed early, babies can be treated through life-long supplementation of the missing hormones.

There are a lot more metabolic disorders that can be detected in newborn screening. However, it should be understood that there is no current federal standard as to which disorders newborns are tested. Screening varies widely from different states. It is best to ask your health care provider which tests are routinely done in your state.

According to the Center for Disease Control, at least 4 million babies in the US are tested each year, of which 5,000 severe diseases are detected in newborns. Today, thousands of children are living healthy and productive lives in spite of their underlying metabolic condition as a result of newborn screening.