For a couple of generations, the U.S. routinely has screened the blood of newborns to identify rare genetic conditions. But a recent editorial in USA Today reminded readers that too many delays at too many hospitals and labs are undermining the system’s ability to protect babies.
Noah Wilkerson was one newborn harmed by a health-care facility that took too long. He seemed to be healthy when he was born in 2009 at a hospital in Colorado Springs, Colo. His blood was drawn the next morning, but it took two weeks later before his sample was sent to the state lab, which didn’t process samples on weekends.
A day before the results came back, Noah died of a genetic disorder called MCAD deficiency. It’s a condition in which the body can’t convert some fats to energy. As explained in the original story about Noah in the Milwaukee Journal, a newborn with MCAD deficiency can appear perfectly healthy, but fatty acids are building up in the body, and soon there’s a metabolic crisis.
If the baby goes too long without eating, he or she can die suddenly or end up brain damaged.
But the real tragedy is that if the disorder is detected early, parents can treat it by feeding the child every two hours. “That's often all it takes for a baby with the condition to grow up and lead a normal, healthy life,” the Milwaukee Journal said.
“In an era when overnight delivery is routine,” the USA Today proclaimed, “it is inexcusable that many hospitals fail to get life-saving samples to labs within the three days recommended by the American College of Medical Genetics and Genomics. And inexcusable that state public health officials let them get away with it.”
That pretty much says it all.
About half of all state-run labs are closed on weekends and holidays, according to USA Today. So if your baby has the bad luck to be born late in the week, he or she is even more likely not to get test results in timely fashion.
Many hospitals simply ignore state requirements that samples be sent to labs with dispatch. Some hospitals wait to send samples until they can do so in bulk, and instead of using overnight delivery, as they might be required to do, they use the U.S. mail. States with the worst records, the newspaper said, are Arizona, Mississippi, South Carolina and Texas, where at least 15 in 100 hospitals take five or more days to get samples to labs.
But it’s not easy to find out who’s prompt and who’s dangerously tardy. Public officials in more than 20 states refused to release information to USA Today about hospital timeliness. “Secrecy denies expectant parents the ability to choose hospitals that are speedy and eliminates public pressure to force improvement,” the paper pointed out.
This is inexcusable. Although genetic disorders requiring immediate attention are rare, affecting about 1 in 4,000 newborns a year, if that baby is yours would you want to wait? There’s a reason babies are tested routinely, and the system should address the most vulnerable patients.
In 2012, the paper reported, only two states, Delaware and Iowa, met the speed standard — 99 in 100 of their hospitals delivered samples to labs within three days. Five years after Noah Wilkerson died, Colorado still doesn't process samples on weekends.
Long before you arrive at the hospital to deliver your baby, make sure you know what its newborn testing timeline is, and make sure the staff knows you’re keeping track. After you deliver, ask when the baby will be tested, and when the sample will be sent. Follow up and get confirmation that the promises have been kept.