July 2020 marks the 2-year anniversary of when the U.S. Secretary of Health and Human Services recommended that SMA be added to state newborn screening panels. This month, you’ll hear about newborn screening milestones, stories, and steps you can take to ensure all states screen newborns for SMA.
Shannon’s story of her family’s experience with SMA would look quite different without newborn screening. “As strong as she was at birth, we likely wouldn’t have known anything was going on until many months into her life, after irreversible damage was done,” shares Shannon. Her daughter, Avery, was the first baby in Georgia to be diagnosed with spinal muscular atrophy (SMA) through newborn screening. That was in April 2019, the first month the state began screening for SMA. Although Shannon gave birth to Avery in Georgia, she actually lives 10 minutes away in Alabama – a state that is still not screening newborns for SMA.
Prior to Avery’s diagnosis, Shannon had never heard of SMA. She was sent to an urgent appointment with her pediatrician after receiving Avery’s “abnormal” test results for SMA. “I figured it couldn’t be much of a big deal since so little information was given. I didn’t even know what SMA stood for,” Shannon recalled. “My husband’s research of SMA had me on my knees sobbing in a state of shock and confusion that would last for several weeks.” The diagnosis was confirmed and appointments with specialists were scheduled. “Most doctors were in awe of how well she was doing and had never seen a baby so young with an SMA diagnosis and no obvious symptoms,” mentioned Shannon.
“I feel a combination of both blessed and angry. Blessed that she was born at the exact right time to be the first baby in Georgia diagnosed through the newborn screening, but angry at what could have happened had we chosen a hospital in Alabama.”
– Shannon, Avery’s mom
Avery is now 15 months old and receiving treatment. “Early treatment preserved the vast majority of her motor function,” mentioned Shannon. She describes Avery as virtually indistinguishable from her peers in physical ability. “She defies every historical expectation of a child with SMA as she walks, runs, climbs, and wreaks joyful havoc through our lives every day,” said Shannon. Shannon wants people to know it’s important to speak and share your stories with legislators, believing that we need to let lawmakers know the future of these kids’ lives are literally in their hands as they make decisions about screening newborns for SMA. “SMA has thrown our world for a loop, but with newborn screening and the availability of effective treatment options, the future of SMA can be very bright.”