By Nancy Maddox, writer
Jordann Coleman’s first child, Sasha, was a completely healthy baby girl. She took her home from the hospital after a one-night stay and never looked back. When she was expecting her second child, she said, she had the same great pregnancy and very easy delivery. Her son, Carter—now two months old—“came out with all ten fingers and toes and he was beautiful.”
Given her past experience, Jordann was surprised when her pediatrician called the day before Thanksgiving, when Carter was just four-days-old. “I thought it was a courtesy follow-up call,” she said. But that notion was quickly dispelled: “He asked me a few questions and told me that something had showed up on Carter’s newborn screening test. He told me the name of the disease, and, of course, it was something I had never heard of. It was the first case he had seen since medical school.”
Carter had a presumptive positive for maple syrup urine disease (MSUD), a genetic disorder that disrupts the breakdown of three branched-chain amino acids (protein building blocks). If babies with MSUD aren’t placed on a special low-protein diet soon after birth, these amino acids build up in the body and one of them, leucine, acts as a toxicant, causing irreparable mental impairment.
The physician advised Jordann to pack a bag and rush Carter to the Stanford University School of Medicine, Medical Genetics Program, an hour away from the San Francisco suburb where the family lives.
“It was almost Thanksgiving, and we had family in town,” said Jordann. “My husband was out doing errands.”
Jordann asked her brother and sister to take care of Sasha and followed the doctor’s orders. When she and her husband arrived at the emergency department, she said, “They were waiting for us.”
“Days 4 to 7 is when symptoms begin, and we were at Day 4. They did a blood test and told us Carter’s leucine levels were the highest they had ever seen. We needed to start treatment right away.”
Carter was admitted to the hospital, hooked up to an IV and started on a special low-protein formula. Jordann and her husband, Andre, spent the night in the hospital.
She said, “We had just gotten over the happiness of having our new son. Hearing that it was something genetic really caught us off guard. We’re thinking we’re two healthy people and we have an older daughter who has no problems. It was hard for us to wrap our head around it. It was very, very emotional.”
Neither parent slept that night. The next day Carter was hooked up to an EEG machine to monitor his brainwaves, as his movements led doctors to suspect he might be having seizures.
Jordann said, “We couldn’t hold him. He had little electrical nodes attached to his head. That was one of the hardest things for me to see.”
Fortunately, the machine showed no signs of seizures and, after 24 hours, he was unhooked. New blood tests showed Carter’s leucine levels were dropping, but “we weren’t out of the woods yet,” said Jordann.
On Day 3 at the hospital, the new parents spoke with a medical geneticist who told them that, when Carter was admitted to the hospital, he had been just a couple hours away from slipping into a coma.
“That was frightening,” said Jordann, “because newborns sleep a lot. How would we know he was in a coma and not sleeping? It clicked in how serious this could have been. I thought, ‘Thank God our pediatrician got the call when he did and he was able to get in touch with us and we were able to get to the hospital in time. Thank God everything happened when it did. Thank God the California public health lab that ran the screen didn’t close early for Thanksgiving.’”
The neonatal intensive care unit was Carter’s home for the next month, as staff continuously tweaked his diet and gradually introduced breast milk to see how much he could tolerate. When he was finally discharged at the end of the month, he came home with the feeding tube, as he still lacked the stamina to eat sufficiently with a baby bottle.
“As of right now,” said Jordann, “he’s doing great. We test his blood every week. He’s getting about half breast milk and half formula. He’s growing well, he’s eating everything. He looks like a completely normal baby. He just melts your heart.”
In fact, said Jordann, “We don’t remember our daughter doing as much smiling and cooing at his age as he does. He’s doing really, really well.”
Although life is still a juggling act—with precisely measured feedings every three hours—Jordan said she is thankful. “The more I learn about the public health labs and newborn screening, the more amazed I am. I’m so happy and thankful that his disorder is one they test for. I’m sure it wasn’t one of the initial newborn screening tests; at one point they added it on, and I’m so thankful they did. It’s just amazing what can be accomplished. Newborn screening is a great program. I can’t thank them enough for everything they do.”