How My Son Was Saved by the Newborn Screening Test

Carter was born on October 13th, 2007.

I remember, like yesterday, looking at him and wondering how I got to be so lucky to be blessed with such a beautiful miracle. Little did I know exactly how much of a miracle he was. Nine days after he was born I recieved a call from his pediatrician’s office. They said that one of his newborn screening tests came back positive for MCADD.

Being a young single mother, all I could do was cry. I had no idea what any of this meant. They asked me when the last time he ate was, I told them it had been a little over three hours, they then proceeded to tell me he needed to eat as soon as I could get him to and then I needed to get into the doctor’s office immediately for further testing.

Crying my eyes out in the middle of the food court at the mall, I pulled my sweet boy out of his stroller and fed him. My mom and I packed our things up and went to the Dr’s. It was there that they explained what they knew (which was very little) about MCADD.

They told me that if he didn’t eat for more than 4 hours at that age he could go into metabolic crisis and the chance of going into a coma and possibly dying were high. The next few weeks were full of blood work, urine samples, tears and an unknowing of the future. After I was able to finally meet with the Metabolic Specialist at Dorenbecher’s Childrens Hospital in Portland, OR it was there that they assured me if I followed a good feeding regime and kept a close eye on him during any illness that he would grow up to be a completely healthy, normal, active boy!

Over the last six years we have gone through SO much. He has been hospitalized during bouts of the flu and simple colds that could in most cases be handled at home, this being because if he refuses to eat or cannot keep food down he can easily slip into metabolic crisis. Everyday I thank my lucky stars for blessing me with this wonderful, amazing, loving young boy who if it hadn’t been for the newborn screening at the time of his birth, possibly might not have made it through the first year of his life. MCADD was not screened for in all 50 states when my son was born but was in the state of Washington.

Now, thanks to the hard work of many non-profit organizations, MCADD is tested for in all 50 states.

We are blessed on so many levels.

More on MCADD:

Medium Chain Acyl-CoA Dehydrogenase Deficency is a condition that prevents the body from converting certain fats into energy, particularly during periods without food (fasting).

People with MCADD are at risk for serious complcations such as seizures, breathing difficulty, liver problems, brain damage, coma, and sudden death. Problems related to MCADD can be triggered by periods of fasting or by illnesses such as viral infections.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but they typically do not show signs and symptoms of the condition.