TOPEKA, Kan. (KSNT) – Four-year-old Zoey Hart from Topeka was diagnosed with Spinal Muscular Atrophy, or SMA, when she was almost 2 years old. Her diagnosis came as a major shock to her family.
“She was born a happy, healthy, 7 pounds, 7 ounces baby girl. She met all of her physical milestones. She crawled like a normal child and stood up like a normal child,” Zoey’s mom, Leslie, said. “Up to about 10-11 months, it was almost overnight when she was starting to stand up very weakly. She would use all of her upper body strength to get up from the ground. So her lower extremity muscles were experiencing some weakness. She did lose the ability to stand independently.”
SMA is a disease that affects the motor neurons in the spinal cord and brain-stem, affecting 1 out of every 11,000 infants. But with the addition of SMA to the Kansas newborn screening panel, treatment can begin immediately for babies.
“If we would have gotten the screening at birth, then we could have started the treatment probably within a week or two,” Leslie said. “Other children have started within days to weeks. And we may not have ever experienced that regression that we experienced, the loss of standing up, standing independently, or walking.”
Every year nearly 35,000 Kansas babies receive the newborn screening, through a blood sample to test for 32 life-altering and life-threatening health disorders.
“Newborn screening is very important to us here in Kansas,” Shawn Manos, KDHE Newborn Screening Program Coordinator for Kansas, said. “As part of our agency goal, we want to provide the best outcome for Kansas families, which is why we provide the newborn screening for free to Kansas families.”
Zoey didn’t start her treatment until after her diagnosis at 20 months. She now takes one of the two FDA approved medications and goes to physical therapy twice a week. Even though she didn’t receive treatment right at birth, she’s making great progress today.
“She now has regained the ability, with diagnosis and treatment, to stand independently,” Leslie said. “She is up to about 30 steps independently.”