Newborn screening: Get the facts and save your child
Imagine giving birth to your new bundle of joy. Imagine finding out she has a serious disorder. Now imagine not finding out and making the heartbreaking discovery only years later. With newborn screening, you get the information you need to keep your baby safe and healthy.
When babies are screened for diseases, doctors prick the baby in the foot with a needle to get a few drops of blood, which are then sent to a lab for analysis. The lab screens the blood sample for evidence of over 50 disorders. Many of these, once detected, are fairly simple to manage. The key is to discover them early and that is what newborn screening is all about.
Newborn babies may appear healthy and still have an underlying health problem. For example, an infant may have a disorder like MCAD, which means he can’t metabolize fatty acids. He simply needs to be fed every two hours. Unfortunately, if his parents do not know about his condition, he could die in his sleep.
“There’s no reason for that to happen if newborn screening is available,” Jill Levy-Fisch, president of the Save Babies Through Screening Foundation, said. “It’s so easy to prevent.”
Unscreened, these disorders can pop up any time during a child’s life, with disastrous results. Children whose health condition is detected early can often go on to lead healthy, normal lives.
Treatment for a disease could be as simple as prescribing an enzyme supplement. Levy-Fisch cites a case in which a baby had ailment where he could not process protein. All he needed was to be switched to a soy formula. Regrettably, the results of his screening came back too late. He died.
Levy-Fisch declares newborn screening is one of the largest and most successful public health programs in the country. Yet she says people know surprisingly little about the issue.
“Knowledge empowers people,” she said. “We’ve heard so many things about parents not knowing their baby was screened. They don’t understand what the screening is, but the thing with newborn screening is it saves lives.”
Although each state screens babies for different disorders, all states legally require that babies receive some level of testing. A federal committee, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, recommends that babies undergo screening for 30 diseases in the top tier and 24 in the second tier. Parents may need to request additional screening through a private lab. The Save Babies Through Screening Foundation provides an interactive map with different states’ screening laws on its website.
“It’s being done no matter what, but the question is how much are you getting? Are you getting everything you should be getting for your baby?” Levy-Fisch explained.
Unless parents want additional screening, there is no cost; the screening is built into labor and delivery fees.
Levy-Fisch’s passion for the cause is personal. When her youngest son was born, she says, “We just felt something was wrong and we weren’t quite sure what it really was.” She thought she had had every test imaginable. When he turned one, he “completely shut down.” He stopped growing a single ounce for a year and a half. Levy-Fisch did not understand why.
“He was tested for everything under the sun. You can’t even imagine … We went from doctor to doctor,” she said. Finally, after three years of desperately hunting for an answer and months of waiting on tenterhooks for the results, the Mayo Clinic diagnosed him with SCAD. Her state had not screened for this disorder.
“It was a diagnostic odyssey,” she said. “[If] we would have known early on, things could have been very different. So we were lucky in a sense. He didn’t have a crisis and he’s doing well ... While we had a good outcome, and fortunately he is okay, quite often that is not the case.”
As screening is required by law, your child may have been screened without your knowledge.
“A lot of people are not aware. ‘Oh, my baby came from the nursery with a Band-Aid on its heel. I don’t even know what that is for.’ They don’t even know the screening was done … It’s not easy to get attention to this. It just seems to be a big secret,” she said.
Parents may be anxious about receiving the results and worry what could be wrong, but as Levy-Fisch points out, it is far worse to struggle for years to find an answer.
“What people need to understand is chances are, you are going to get good news,” she said. “But if you don’t, you’re really gonna consider that your lucky day because you found out something that’s going to save your baby’s life.”
Many of the conditions that tests screen for are genetic. Parents might believe that they are safe if they do not have a family history of the disorder, when, in fact, they could be carriers without their knowledge. Doctors do not screen babies prenatally unless they have a reason to look for a specific disease, such as a sibling who suffers from the disorder.
Boasting an all-volunteer staff of individuals who have personal interests in the issue of newborn screening, Save Babies Through Screening Foundation is the only advocacy group in country dedicated to newborn screening. The foundation aims to ensure that each child is screened efficiently, comprehensively and successfully, and provides resources such as speakers and counseling.
The website offers FAQs for families and a variety of educational materials, including free DVDs. Be sure to check out its informational video, now used by the state of California as an educational tool. Its 1-800 number connects concerned families with live parents who can give guidance.
“We are responsible for making decisions for our babies and if our babies were asked to make that decision themselves, would they refuse a test that could save their lives? I don’t think so,” Levy-Fisch said.
For more information, visit www.savebabies.org.