In 2002, when I was a second year pediatrics resident in Atlanta, a three-week-old baby was transferred to my hospital with worsening sleepiness. This baby boy had been doing well for the first few weeks of life, but then he started eating poorly and became harder to wake over the course of a few days. The list of what could be wrong was long. Multiple tests were immediately ordered, but by the time his lab work returned and showed that his ammonia level was high, the baby was already in a coma. He stayed in the ICU, where we treated his elevated ammonia levels and his problems resulting from it. He was discharged home with the diagnosis of a metabolic disease, as his body was unable to use a certain protein correctly, resulting in elevated the ammonia levels. Unfortunately, by the time this diagnosis was identified, the damage had already been done. He suffered a major brain injury which we could not undo.
It was, and is, a tragic story. Had this baby been born a decade later, his pediatrician would have been able to identify this disorder before he even suffered any symptoms. A simple change in his diet would have prevented the terrible events of those few weeks. So much hardship could have been avoided had the newborn screening test been available at that time. The newborn screen first came about in the 1960’s, when doctors searched for a way to diagnose phenylketonuria or “PKU”. PKU is also a disease of protein metabolism, and is also treatable with small dietary changes. This was the origin of the newborn screen, which is why some people still refer to this as the “PKU test”. Since the start of testing, multiple tests have been added to the bloodwork panel we perform. For many of these identifiable illnesses, early diagnosis leads to early interventions, allowing us to either prevent the illness altogether, improve the outcomes or help physicians and families be prepared to deal with the complications. Cystic fibrosis, sickle cell disease and congenital hypothyroidism are just a few of the diseases the screen helps identify.
In the last 15-20 years, new technology has allowed us to screen for many more illnesses related to our metabolic “chemistry set”. In that time, we have gone from about a dozen screening tests to over sixty now available to us. Hospitals perform this test on newborns once they reach 24 hours of age. If a baby is born outside the hospital, this test can still be performed at a pediatrician’s office following the first day of life. A small blood sample is taken from the baby’s heel and sent to the Minnesota Department of Health (MDH). The pediatrician then receives results within 1-2 weeks. If the test results are abnormal, the MDH has a wonderful system in place for tracking down all medical providers involved to make sure that appropriate follow up testing and treatments are started. Each state has its own guidelines for
determining which tests to include; however, there is a national committee that provides recommendations.
As a pediatrician, I have had several families express concern over what happens with their child’s blood once testing is complete. Since 2014, Minnesota has kept all blood samples in order to perform confirmatory testing, standardize testing equipment and develop new tests for
the screening process. The blood samples cannot be used for any other purpose than what I stated unless the parents sign a consent form that they wish for this to happen. Parents can also request to have their child’s blood sample destroyed after initial screening. Bottom line? If you are concerned about your baby’s blood being “out there”, you have legal rights permitting you to decide its future. Please don’t let concerns over privacy prevent you from having this test done.
The story I opened with was a heart breaker, so let me finish with a story with a more promising outcome. About two years ago, the MDH added a test to the newborn screen to look for a disease called adrenal leukodystrophy or ALD. Some of you may have seen a movie titled “Lorenzo’s Oil”, which dealt with this disease. In short, a percentage of kids carrying this gene can start to develop adrenal failure, a loss of developmental milestones and ultimately death in childhood. ALD is not easy to diagnose, as the symptoms may begin with common behavior problems seen in children. During this past year, I had a baby boy diagnosed with ALD on his newborn screen. Because of his diagnosis, we were able to diagnose his older brother as well who had been born prior to this test being available as part of the screen. Had we not known this information, if symptoms started to manifest themselves the disease process would have been too far along in them to do anything. However, because we have the diagnosis of ALD for these two boys, they are closely monitored with lab work and imaging to watch for any blood or brain changes starting in their body before symptoms begin. We can intervene before anything is irreversible. It isn’t an easy road, but we have treatments available to these boys that we would not have previously. The boys’ mom is my champion for newborn screening.
Simply said, it saved her boys’ lives.
If you have questions about newborn screening, talk to one of our clinicians at South Lake Pediatrics. We are happy to answer any questions you may have.
