The Importance of Newborn Screening

Newborn screening holds a special place in our hearts.  The State of CT Newborn Screening Test saved Mitchell’s life in May of 2008, when he was 7 days old.  We are so extremely fortunate that we live in CT and that Mitchell was given the expanded version of the newborn screening test.  Without diagnosis of his urea cycle disorder, we would have, most likely, lost our beautiful baby boy.

While Mitchell’s disorder is called “rare” by some, urea cycle disorders are now estimated to affect as many as 1 in every 10,000 births in the United States – or approximately 400 babies a year are born with a urea cycle disorder.  That means that one baby every day is born with a urea cycle disorder and the fight for their life begins. These statistics only depict urea cycle disorders and do not include the other disorders that can be detected on newborn screening.  

Even with the staggering number of children that are found to have detectable disorders, such as Mitchell, not all states offer the comprehensive newborn screening test to families.  According to the March of Dimes, 6.1 percent of babies are born in states that require screening for only 10 to 20 of the 29 core detectable conditions and 6.2 percent of newborns will get screening for fewer than 10 conditions.  Disparities in state newborn screening programs mean many children will die suddenly as infants and be declared victims of sudden infant death syndrome, which they are not, or develop brain damage or other severe complications because they are not identified in time for effective treatment.  Early detection and treatment can save a child’s life.  

On April 24, 2008 – ONE DAY BEFORE MITCHELL WAS BORN - former President Bush signed into Law the “Newborn Screening Saves Lives” Act. This act has standardized newborn screening throughout the states.  However, our fight is not over. We still need to convince Congress to appropriate the necessary funding so that EVERY child in EVERY state is tested for all detectable disorders.  Until then, we must continue to raise awareness regarding this important issue so that NO family has to suffer the heartache or tragedy of inadequate screening.