Tests to Prepare For
On October 26, 1997, Jana Monaco, of Woodbridge, Virginia, gave birth to her third child -- a healthy 8-pound-12-ounce son. When Stephen was 3 1/2 years old, he came down with what seemed to be a normal stomach bug. It wasn't until Jana found Stephen with his teeth clenched tightly and his body as floppy as a rag doll's that she knew something far more serious was ailing him. Within two days, Stephen was in a coma, on a ventilator, and not expected to live. The cause was isovaleric acidemia, a rare metabolic condition, characterized by an inability to process certain proteins, which was present when Stephen was born. If detected early, treatment, including supplements and a special diet, can help keep kids healthy.
At the time, the state of Virginia did not routinely screen newborns for that disorder, so Stephen's life-threatening condition went undetected. This information shocked his parents. "I said, 'You mean to tell me that if Stephen had gotten on the right diet from the start he could have been okay?'" explains Monaco. "Knowing that what happened to Stephen could have been easily prevented really compounded the tragedy."
Early Detection Makes All the Difference
The contrast between kids who receive early diagnosis and treatment for this condition and those who don't is evident in the Monaco family: Stephen survived with severe brain damage. Now 8 years old, he is in a wheelchair, unable to speak, and eats through a tube. His younger sister, Caroline, was tested prenatally and diagnosed with the same disorder, but she's a normal 3-year-old today because of early intervention.
The Monacos' story is a perfect example of the benefits of screening newborns and the consequences of not testing. "Newborn screening of babies is one of the most important things we can do," says R. Rodney Howell, MD, professor of pediatrics at the Miller School of Medicine at the University of Miami. "By identifying babies that look healthy but have one of these disorders, and by starting treatment, we can dramatically improve and even save their lives." Here's a look at the current situation in newborn screening and what you can do to ensure that your precious baby receives the tests she needs.