I gave birth to my first child In May 2013. The pregnancy and birth were both easy and normal with no complications. When we came home from the hospital, I was still overwhelmed and anxious, similar to most new mothers. My mom had come to stay for a few days, but when she left I felt lost and unsure of how to take care of this new baby that was suddenly my responsibility.
I specifically remember the night after my mom had left. It seemed like the baby was crying all night long. My husband wanted me to feed him again and again, but by that point, breastfeeding had become incredibly painful. I was trying to delay the amount of time between feeding, but that was the only way the baby could be consoled.
The next day, I was sitting on the couch with a friend who had come to visit. My phone rang, and caller ID said it was my pediatrician’s office. We hadn’t even been to the pediatrician yet. Our first appointment was in a couple of days. I answered, thinking they were just going to confirm the appointment. The lady on the other end of the phone proceeded to tell me that they had received the results of my son’s newborn screen. I wasn’t even sure what this test was. She explained that the heel prick test they did in the hospital tested for several genetic conditions in newborns. She told me that the test came back with a positive for Medium-chain acyl-CoA dehydrogenase deficiency, also known as MCADD. I was trying to process what she was saying and find a pen to write all of this down.
I work in healthcare, so the words themselves weren’t completely foreign to me, but I still didn’t have a grasp of what it meant. She told me that all I needed to do was to feed my son every 2-3 hours. I needed to wake him up to eat if he continued to sleep. More information would be given to me at the pediatrician’s appointment in a couple of days.
I remember that she emphasized to me to not google what this could mean. She said a lot of times the screening test comes back with a false positive, and the information online can be scary without an official medical explanation. I, of course, ignored this advice and googled it immediately after my friend left.
MCADD is a fatty-acid oxidation disorder which means that my son would be unable to break down medium chain fats in order to keep his blood sugar regulated. Once I read this information online, I was actually much calmer. It seemed to be a pretty manageable diagnosis.
We met with the pediatrician who explained the newborn screen process and gave me similar information to what I had found online. They provided me with a direct referral to a geneticist and assisted in setting up that appointment. Bloodwork was done, which confirmed the diagnosis.
Since then, we have had easy access to all the care we need. Now almost 5 years later, we follow up with genetics yearly and we have only had one hospitalization. My siblings are all having children now also, and I have always encouraged them to be sure they get the newborn screen test done. I tell them to continue to feed their children until the newborn screen test comes back, just as a precaution.
This diagnosis isn’t something that I wish on anyone, but I will be forever grateful for the newborn screening and early detection. Without it, we would never have known about my son’s condition until he became sick. And by then, it could have been too late.