Catching problems before they destroy lives

And here’s the latest news: Oregon wins by a score of 49 to Utah’s 46!! Football? A very defensive basketball game? Certainly not soccer, hockey, or baseball. So, what’s the game?

The game is Life and the scores are based on available newborn screening for life-threatening conditions and diseases. If you happen to live in Washington State, the score would be 14. If your child is affected by one of the genetic conditions not screened for in Washington—or Virginia, where Stephen Monaco was born—there’s a very small, but real, possibility that your child could die or be severely disabled by an undiagnosed genetic condition.

Here’s what happened to Stephen:

"Stephen came into the world just like any other healthy baby," Jana Monaco, Stephen's mother, says. But when he was three-and-a-half, he had a stomach virus when his parents put him to bed one night. "That was the last time we said goodnight to each other and ... I love you," Jana says.

When he woke up, he had suffered a metabolic crisis that nearly killed him. "They told us then, 'If he makes it through the weekend, he won't be the same child you knew and loved,'" Jana says. Just 24 hours later, he was left a severely disabled child with complicated medical issues. "It was one day. He went from making his grandmother's birthday cake to being on life support," Tom Monaco, Stephen's father, says.

Stephen was found to have isovaleric acidemia (IVA), a genetic metabolic disorder not then screened for in his birth state (Virginia). The Monacos encouraged Virginia to screen for the 29 conditions recommended by the American College of Medical Genetics. "The first six months after the expanded screening, 22 babies were picked up with these disorders," Jana says. Among those screened, Stephen’s sister, Caroline, was also found to have IVA. She was placed on a restrictive diet and is happy and healthy at 4 years.

Stephen can't walk, talk or feed himself. But he inspires his parents and many others everyday. "If we can help one family not have to go through this, then we've done our job," says Tom. That's how Stephen is making a difference.

You can read the full story and view a video from the Ivanhoe Newswire and can find out what your state screens for by checking the frequently updated listings.

By the way, although the subject for this blog entry is identified as "genetic testing", newborn screening does not look at DNA, but at the effects of specific genes on chemicals in the blood. Some hospitals do now save the blood samples taken from the heel of a newborn just after birth and severl weeks later as sources for additional testing and for potential genetic testing using DNA extracted from the sample.

Marie Godfrey, PhD