Written By Ansley T.
When my baby was 5 days old, I got a call from the pediatrician we chose before birth. As soon as I answered, she started speaking very fast and explained that Northside Hospital had notified her that one of our son’s Newborn Screening Test results had come back with an abnormal reading; he needed to be evaluated by a doctor urgently, but in the meantime, I needed to be sure to feed him every two hours. I couldn’t even compute all she said, but I explained that we were already in the NICU at Children’s Hospital because of his low body temperature on the first night home from the hospital. We found out that day our son has medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
WHAT IS MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCADD)?
Medium-Chain Acyl-CoA Dehydrogenase Deficiency, or MCADD, is a rare genetic metabolic condition in which a person has difficulty breaking down fats to use as an energy source while fasting. It is estimated to affect one (1) in every seventeen thousand (17,000) people in the United States. All babies have a newborn screening (NBS) blood test to check for various genetic and metabolic disorders such as MCADD, but it can take five or more days until the results are reported.