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Timing Is Everything
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Newborn screening is an amazing program with countless benefits. Few public health programs have positively affected so many generations of Americans. Of all the various aspects of the program, there is one specific aspect that can literally be the difference between life and death: timing. We've all heard the phrase "timing is everything" and with newborn screening, timing can be as important as the test itself. The federal government recommends the newborn screens to be performed within 24-48 hours of life in order to obtain accurate and timely screens. The goal is once the samples are collected, they are sent to the state labs to be analyzed and a family can be notified of a potential positive test within the child's first few days of life. If these conditions are not diagnosed and treated within a matter of a few days or weeks, severe complications - including brain damage and death, can occur.
My son, Carter, was born a few days before Thanksgiving in 2012. He is our second-born, so we felt we had the whole labor-and-delivery thing down. My pregnancy was easy and the birth went by just as smoothly, around 3:00 in the afternoon, I was holding my beautiful 7 lb 8 oz son. With this being our second child, the hospital staff said it was ok for us to leave the hospital after only a one-night stay. My son's pediatrician also gave the thumbs up but told us just not to leave before we had the screen done. No problem, I thought. A few hours after the screen was completed, we packed up to begin our life as a family of four.
Three days later, with my husband out running errands to prepare for Thanksgiving and with our families over to meet Carter for the first time, I received the phone call that changed our lives forever. Carter's pediatrician called to tell us that a disease called Maple Syrup Urine Disease (MSUD) had shown up on his screen and we needed to rush to the hospital to begin treatment. MSUD is a genetic metabolic disorder where the body cannot break down the branched-chain amino acids found in protein. The build up of these amino acids could lead to brain damage, coma, and/or death if left untreated. Treatment for MSUD is a low-protein diet. Over the next few hours, as Carter began to undergo treatment to lower his amino acid levels, we learned about how close he had been to experiencing severe symptoms and how important of a role our state newborn screening system played. Carter had one of the highest amino acid levels the lab had seen on a newborn screen and when he was admitted into the hospital, his levels had skyrocketed to a point where he was literally hours from slipping into a coma. The doctors told us how fortunate we were to have gotten him into the hospital when we did. They told us babies with MSUD who are diagnosed and begin treatment between days 4-7 of life have the best overall outcome and usually lead lives with little complications from MSUD. Carter was just 4 days old. At this point it was the only small sliver of a silver lining in the huge dark cloud that hung over us.
As my husband and I sat numbly in the hospital trying to process everything we had been told in the past few hours, I started to look into the California newborn screening program to learn more. I saw the large list of conditions the state screens for and how they stay open on weekends and holidays. As the importance of the screen’s timing began to sink in, I instantly felt indebted to this program. My son was born on the Saturday afternoon before Thanksgiving. But being born on a weekend before a major holiday didn't matter because the lab was open every day. I always think about the "what ifs". What if the lab wasn't open on the weekend? Or what if they closed early for the holiday? When would we have known something was wrong? How many hours would my baby have been comatose? How long would it have taken us to realize it was MSUD? What if we lived in another state? Would Carter be the happy, healthy baby he is today? To this day, these thoughts make my stomach queasy.
As we settled into our lives with MSUD, I continued to learn more about the newborn screening program. What surprised me the most were the differences between states. Although states screen for a majority of the diseases listed on the Recommended Uniform Screening Panel (RUSP), the collection protocols vary. Because of this, some parents weren't able to find out about their baby’s conditions in enough time before they succumbed to severe disabilities or died. Not because the tests didn't screen for the condition, but because the labs were closed or the hospitals didn't send the test to the lab in enough time. A baby’s health shouldn't be determined by lab hours or by when a hospital decides to send the test in. Every year newborn screening saves 12,000 babies. Optimizing this great system could potentially save even more. My baby was fortunate enough to have everything fall into place perfectly and because of that, he should lead a long and healthy life. Every baby born in America deserves this same opportunity.
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