Carter Bass Coleman was born November 17, 2012 in Walnut Creek, CA. Carter is our second child (older sister, Sasha, now 10 years old, and younger sister, Zara, 2.5 years, do not have MSUD). My pregnancy and birth with Carter was easy. When we brought him home after one night in the hospital, we were ready to start our lives as a family of 4. In our first few days at home, I noticed Carter wasn’t much of an eater and seemed to always fall asleep when I would feed him. At the time, I figured he was getting enough, so didn’t think much of it. On his 4th day of life, the day before Thanksgiving, we received a call from our pediatrician. I thought this was a new service he was offering parents with newborns so I cheerfully answered the phone. Our pediatrician’s tone was serious and he asked how Carter was doing. After sharing that he had a rough night of sleep the night before and didn’t seem to be a great eater, he told us Carter’s newborn screen came back with an out-of-range result for MSUD. Fortunately, where we live there are two genetics programs within an hour so our pediatrician told us to immediately start driving in the direction of either hospital and he would call with further instructions. Numbly, I hung up and went downstairs to share the news with my parents and siblings, who had just arrived 30 minutes prior from out of town for the holiday. My husband and mother-in-law were out running errands for the holiday, so I had to call them so he could come back home and we could head out to the hospital. We decided to go to Stanford Hospital as it was 15 minutes from where my grandparents lived. 

When we got to Stanford, we were immediately brought into the Emergency Department where they started drawing labs and putting him on an IV. After a short wait, one of the Geneticists met with us to explain that Carter’s levels were so high on his Newborn Screen (over 700), that there was no need to run a diagnostic test. They were going to immediately start treatment. Later, we found out Carter’s levels upon admission were 2450, and were told he was likely hours away from slipping into a coma. The first couple of days were rough before he stabilized. Once stable, we worked with his team to figure out his leucine tolerance and work on this stamina for oral feeds. After a month in the NICU, we were finally able to bring Carter home a few days before Christmas.