Newborn Screening’s Life-Changing Potential: A Family’s Story

September 24th, 2014

by Jana Monaco

Newborn Screening_09.24.14_Image 1To some, newborn screening is simply one more uncomfortable medical procedure performed on a newborn in the hospital, before going home with family. Yet those who work on newborn screening education – and families like mine – know it’s a test that can have a profound impact on a baby’s life.

I’m reminded of the reality of newborn screening’s impact at this time of year. For most kids, September means back to school and fall sports. They will return to the classrooms and the sports fields with their friends, without a second thought. For my daughter Caroline, living with a life-threatening inborn error of metabolism called isovaleric acidemia (IVA), it is a gift not to be taken for granted. IVA is a disorder in which one’s body is unable Newborn Screening_09.24.14_Image 4to break down the amino acid leucine. Leucine, a byproduct of protein, produces isovaleric acid that is toxic to the body. Early detection of her disorder by newborn screening has enabled Caroline to have appropriate life-long medical intervention and management of her disorder, so that she has the strength and good health to play ball…something we never take for granted.

Through the joy of watching her run around the field and advance to middle school, I am reminded that another year and another season has come and someone else is missing in the halls of our local high school and on the ball field – her big brother Stephen. He too has IVA, but due to a twist of fate the disorder was not detected when he was a newborn, as a result of lack of comprehensive newborn screening.

Newborn Screening_09.24.14_Image 2On a beautiful May morning when Stephen was three and a half years old, I found my happy, energetic little boy unresponsive in his bed with a strange odor permeating his room. Just days before, he was playing in the dugout at his brother’s little league game and running the bases after the game. He felt like a little, limp ragdoll as I picked him up and I could feel his little heart racing as I called 911. By the end of the day, he was in a hospital pediatric intensive care unit (PICU). Less than 48 hours and two seizures later, he crashed before our eyes and was left with swelling around his brain stem. Stephen was in a coma, on life support, fighting for his life.

Stephen’s diagnosis of isovaleric acidemia came too late to prevent the severe brain damage. Imagine being told, “if your son makes it through the weekend, he won’t be the same little boy you knew,” and having to tell your other children that their brother is going to die. By the grace of God and excellent medical intervention, Stephen survived his metabolic crisis after a three-week coma on life support. However, it left him with severe intellectual and developmental disabilities, seizures, a gastrostomy tube, cortical vision impairment, and now a neurogenic bladder requiring me to catheterize him several times a day to empty his bladder.

The devastation of what Stephen has endured, and continues to endure, is compounded by the realization that it could have been prevented, Newborn Screening_09.24.14_Image 5had he been screened for IVA at birth. This knowledge inspires me as an advocate for expanded newborn screening at the state and national level to help prevent other babies and children from sharing Stephen’s fate.

After four weeks in the hospital and six weeks in a pediatric rehabilitation center, we brought Stephen home to a very different life for all of us. Somehow, we found a way to go on with life, welcoming Caroline just one year later. We were now raising two children with a serious metabolic disorder, including one with intellectual and developmental disabilities and two other sons who sought some sense of normalcy. Stephen has had many medical challenges over the past 13 years, and we have all made incredible adjustments. Since 2011, Stephen has had five surgeries to include a major spinal surgery to insert two titanium rods and 27 screws. Despite four medications, we deal with weekly seizures that are difficult to explain. It’s all a part of our rollercoaster life through which we savor the plateaus of status quo and Newborn Screening_09.24.14_Image 3brace ourselves with all of our inner strength for the approaching slopes and rapid descents of the next medical complication.

As we make our way through life, we are constantly reminded of the endless “what could have beens” with Stephen, while cherishing those first three and a half years when we watched Stephen grow and develop his fun, loving personality, strong independence, and infectious charm. Rather than dwell on the loss, we chose to embrace the opportunity to take the series of events in his life and see a greater purpose…one that has and will continue to impact endless children and families in the years to come nationwide.

Together, Stephen and Caroline are a clear representation of the importance of newborn screening and the dramatic consequence with and without…a forever reminder and reason that September is Newborn Screening Awareness Month.

To learn more about newborn screening, visit these links from the Association of Public Health Laboratories (APHL):

Newborn Screening Resources

Newborn Screening FAQs

Parent Brochure: Newborn Screening, 50 Years Saving Babies’ Lives

Resources for Healthcare Providers

Newborn Screening: Stories from APHL’s Blog