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One Big Step for Rafael, One Giant Leap for Spinal Muscular Atrophy
A mother and child walking hand in hand down a hospital hallway (pictured in the header) is a common sight at Valley Children’s. But the sight of mom, Claribel, and 13-month-old Rafael walking down the hallway in the Neurology Clinic was something altogether different.
Soon after birth, like every baby born in California, Rafael participated in the Newborn Screening Program (NBS), a public health program that screens all babies for many serious but treatable genetic disorders. The program began in 1966 with screening for one disorder, phenylketonuria (PKU), and has now expanded to include 80 different genetic and congenital disorders.
In 2020, after several years of advocacy by parents and organizations alike – including Valley Children’s – California officially added spinal muscular atrophy (SMA) to its newborn screening panel. And it is for this reason that Valley Children’s physicians were able to diagnose Rafael with SMA at a very early age.
“It is crucial for children with SMA to be diagnosed as early as possible,” said Dr. Raymund David, Valley Children’s pediatric neurologist and Muscular Dystrophy Clinic lead. “An earlier diagnosis means earlier treatment, and earlier treatment can make a big difference in the quality of life for the patient because it means that fewer motor neurons will perish, which can slow the progression of the disease.”
“In the past, kids with SMA may not have been able to walk, or even sit,” explained Dr. David. “With today’s treatments, kids like Rafael are hitting important childhood milestones and it’s just truly amazing.”
Read the full story here.
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