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Sep. 15, 2020

TOPIC: Featured News, Advocacy, Patient Stories, Newborn Screening

A Newborn Screening Reflection: Sarah’s Story

Posted by Laura Mullen

September is Newborn Screening Awareness Month, and I’d like to share our family’s experience with it, and why we think every parent should know more about this incredible test, that looks for dozens of genetic disorders in babies that are not so easily apparent at birth.

My husband Chris and I waited to have kids, enjoying the early years of our marriage to travel, play and build careers. Finally, the time felt right, like something was missing, and we realized that we were ready for a new adventure of parenthood. In June 2009, after a healthy pregnancy, I gave birth to our first child, a son whom we named Noah. We fell instantly in love with him, counting fingers and toes,  deliriously happy with our beautiful little boy. After two days in the hospital, he was deemed healthy enough to go home, and we were glad to begin settling into our new normal.

On the fourth day of Noah’s life, after dinner, we looked down and realized our son was not breathing. We called 911 and did our best to remember the steps to infant CPR from the class that we’d taken before he was born, never dreaming that we’d have to use those skills one day. An ambulance arrived and whisked us off to the hospital. The doctors and nurses worked hard to try to save his life but unfortunately, no matter what anyone tried, he slipped away, and we lost him that night.

Shocked, devastated and horrified, we went home empty-handed, racking our brains for what possibly could have happened. Where did this all go so terribly wrong? The next day the answer came. Noah’s newborn screening test came back positive for a genetic disorder called MCADD (medium-chain acyl-CoA dehydrogenase deficiency). 1 in 10,000 people are born with it. Noah’s metabolism didn’t function properly, and without a diagnosis and proper treatment, it can be fatal. With treatment, he could have lived to a healthy old age.

We learned that in our home state of Colorado, the state lab that is responsible for running this test was only open during business hours, Monday through Friday. Noah was born on a Friday, so his time-critical, life-saving test sat untouched over the weekend. We have since dedicated ourselves to advocating for this cause and have been successful at passing both a federal and state law to make this practice illegal. Many lives have been saved as a result! The stories from other families in which their children’s conditions were identified and treated early have been a huge comfort to us.

Even though life didn’t turn out according to plan for our family, I am comforted that this is a system that is growing and evolving each day to be better than it was before. I am grateful that we know what happened to our son, so that we could make informed choices, as we’ve since had his younger siblings. It wasn’t that long ago that MCADD children that died like Noah did were written off as SIDS. That thankfully wasn’t what happened to us. Newborn screening gives us hope and a possibility for children to get the care they need at birth and have the chance for a long and healthy life.