Our son, Drake, was born during a routine c-section and there were no complications. He was healthy and doing great. His older brother and sister were so excited to meet their new little brother.
Feeding was going ok, but he was very sleepy a lot. He had the cutest squeak. One of his CNAs noticed a heart murmur and we were keeping an eye on it. We had newborn pictures taken and I was so happy with how well-behaved, quiet, and accommodating he was.
A day and a half after he was born, the murmur was pretty pronounced and they kept a pretty vigilant eye on it. He still wasn’t very interested in eating, but we sure tried. Then, his blood sugar started to drop. And drop. And drop. We had no idea why. He was having trouble breathing, didn’t want to eat, and the murmur was still there.
I still thank my lucky stars that the nursery staff at Riverton Hospital placed him on a dextrose IV. I’m certain it literally saved his life, but we didn’t know that at the time. Even with the IV, he still wasn’t improving and the decision was made to send him to Primary Children’s Hospital with the Lifelight team but in an ambulance. It was agonizing to say goodbye to my sick little, brand new baby and so I made the decision to check myself out early, even while recovering from the c-section, to be with him. We felt blindsided and just broke down sobbing. What could we do?
At Primary Children’s NICU, it was determined he had pulmonary hypertension but that didn’t explain his blood sugar drops. A day or two later, he had stabilized and Grandma and Grandpa were visiting him. Mom was in the “waiting hallway” and heard and saw two official-looking doctors from another country speaking a foreign language. “That poor family!” Mom thought. “They had to call in the specialists for that little one’s condition!” A few minutes later, my dad came to tell me some doctors wanted to visit with me. (I hadn’t made the connection yet.) I went to meet them at my baby’s bedside…and when I got there, I realized “Oh no! I’M that poor family!!!”
They proceeded to explain that Drake’s newborn screening came back indicating MCAD deficiency (MCADD) and explained the basics. It was TERRIFYING but so good to hear some answers. We got an appointment with genetics as soon as he was discharged.
Screening for MCADD began in Utah in 2006, so our oldest, born before then, had to be DNA-tested to see if he had it. Luckily our daughter born in 2006 had the newborn screen done with negative results.
It’s been a steep learning curve, with a lot to know and learn to step out of our comfort zone and learn to advocate for our son.
Fast forward to 2013, and we’d decided to have one more child, knowing what we know about MCADD and newborn screening, we were prepared and had orders to rush her screening as soon as she was born. Before it came back, we would treat her as if she had MCADD. Complications arose with the pregnancy. Mom developed HELLP syndrome and baby, Evelyn, was born 5 1/2 weeks early to save Mom’s life. She was a whopping 3 lbs 10 oz! We had the orders and informed delivery staff of what was needed, including NO preemie formula, and how to treat her as soon as she was born-feed ASAP! They were surprised at our level of advocacy but listened to us. Two days later, we received “the call.” She also has MCADD. I allowed myself a little time to mourn but then was ok. We can do this.
Both cases of the newborn screen, especially with Drake, were CRUCIAL in their immediate medical care. I can’t bear to think of what could have happened without the screening in either case…or what has happened to those poor families whose children were born before newborn screening was established and had to suffer devastating results without knowing why.