Ohios Newborn Screening Program Could Help Prevent Disorders

There’s one thing all Americans share at birth. It's the experience of having a heel stick, a jab that draws blood used for all types of screening. How much can doctors learn from a few drops of blood squeezed from the heel? Quite a bit. Erica Twiggs is a phlebotomist at University Hospitals, a specialist in drawing blood. She’s explaining to mother Tiffany Cone of Bedford, Ohio that she’s taking her baby to the nursery for newborn screening. "She’s sleeping so peacefully … let’s see how long this is going to last," Twiggs said. Twiggs readies the needle and quickly pricks the heel of Cone’s baby, Kennedy. Kennedy is no longer fuzzy with sleep. "Almost done, honey," Twiggs said. Blood from baby Kennedy’s heel hits the absorbent paper of the official Ohio newborn screening form. Five perfect circles of bright red blood stand out against the form’s white background. In a couple minutes, Twiggs is finished and the sample is ready to send off for testing. Chances are, baby Kennedy is just fine, but some babies do have genetic disorders that, when caught early, can be treated. Marsha Bigham remembers the needle stick "like it was yesterday." Marsha Bigham and her 19-year-old son Josh are from Canal Fulton, just south of Akron. When Josh was born, the blood from his heel stick showed he has a condition called Phenylketonuria, or PKU. "We knew nothing about PKU" Marsha Bigham said. But they learned quickly. Within a week of birth, Josh was put on a special diet by his doctors at Akron Children’s Hospital. People with PKU can’t break down proteins and if they breast feed or later eat meat & dairy, it can cause irreversible brain damage. PKU is pretty rare—about one in every twenty five thousand babies is born with it in the US. In Josh’s case the early intervention was a success. He’s a full time student and a natural with cars. It takes him a while to think of a auto repair that actually challenges him: Josh is a typical teenager--dirt bikes, girlfriend, short answers—and this is because of newborn screening. His mom gets quiet when she thinks of what might’ve happened without it. "I mean he would have been severely mentally challenged," Marsha Bigham said. PKU is the flagship disease for newborn screening. It kick-started the practice in the sixties, and now most states screen for a core group of about 30 different disorders. Here’s how it works: those drops of blood from the heel stick contain information about a person’s genes and how they process nutrients. Clues in the blood can send up red flags, and alert doctors to certain disorders, like PKU, sickle cell anemia and cystic fibrosis. The Ohio Department of Health runs the state’s Newborn Screening Program, and Sharon Linard is a supervisor there. She says blood is a window to the body. It’s very easy to get and it has a ton of information in it," Linard said. After a heel stick, all those samples are over-nighted to the Department of Health’s lab in Columbus. Results are usually known within 24 hours and they’re faxed or phoned in to the baby’s doctor’s office. In a given year, they identify an average of 250 babies in Ohio with genetic disorders. Ohio screens for nearly all of the core diseases recommended by federal guidelines. These are conditions that benefit from early detection. "If we don’t have a treatment, we will not test for it," Linard said. Linard says the most common disorder that crops up in Ohio is hypothyroidism, where the baby doesn’t have enough thyroid hormone to keep growing, and the fix is simple: take a pill. Other common ones are sickle cell and cystic fibrosis. More rare disorders, like something called Maple Syrup Urine Disease, might surface only once in a blue moon. The Centers for Disease Control and Prevention call newborn screening one of the ten greatest public health achievements in the U.S. over the last decade. It’s estimated that over five thousand of the 4 million babies born in the states each year will have one of the conditions that’s screened for. "When you think about the babies you save by this, these are babies who have normal lives and wouldn’t have had normal lives otherwise," Linard said. All thanks to a couple drops of blood.