AMARILLO, Texas (KAMR/KCIT) —Kathryn McBride had no idea that the decision to opt-in for her twins to be screened for spinal muscular atrophy (SMA) at birth would change the trajectory of her son’s life. Even though SMA is a rare disease, it is a leading genetic cause of infant death, affecting one in every 11,000 babies born. If left untreated in one of its most severe forms, Type 1, 90% of children require permanent feeding and breathing support or pass away by their second birthday. Depending on the type, SMA can progress quickly, meaning the earliest possible diagnosis and treatment is crucial.
The results of the twins’ newborn screening tests revealed that Kathryn’s son Conor had SMA, while his twin sister Tierney did not have the disease. Knowing it was imperative to act fast since it was SMA, most likely Type 1, at the age of five days, little Conor was sent via ambulance to receive treatment. Under the care of one of the world’s top neurologists and geneticists specializing in SMA, he started a chronic treatment. Conor’s neurologist told Kathryn that because Conor was premature, he was not eligible to receive a one-time therapy called ZOLGENSMA® (onasemnogene abeparvovec-xioi). But the McBrides preferred a one-time treatment for Conor – so once he reached gestational age, they completed additional testing which confirmed he would qualify for the treatment. At three months old, Conor was treated with Zolgensma, the only gene therapy for SMA and the only SMA treatment designed to directly address the genetic root cause of the disease by replacing the function of the missing or non-working SMN1 gene with a single, one-time dose.
ZOLGENSMA has a boxed warning for acute serious liver injury and in clinical trials the most common side effects were elevated liver enzymes and vomiting. Please keep reading for additional important safety information and please see accompanying Full Prescribing Information.
Though Conor was diagnosed and treated early, not every baby is as lucky. That’s because this simple test for SMA is not included on every state’s newborn screening panel. Currently 12 states, plus Washington D.C., do not screen for this devastating disease.5,6 August is SMA Awareness Month and Kathryn is advocating for parents and physicians to recognize the early signs of SMA, to help babies receive a diagnosis and treatment to minimize the irreversible loss of motor neurons.