Fort Worth Toddler Takes First Steps After Groundbreaking SMA Treatment

Jessie Gonzales was just 7 days old when his mother, Lupita Vasquez, learned he had spinal muscular atrophy type 1, a progressive neuromuscular condition that once ranked as the leading genetic cause of infant mortality before treatments existed. Now, at 19 months old, the Fort Worth toddler is walking — a milestone his family credits to a newly approved high-dose version of the drug Spinraza that he began receiving this spring.

Jessie became the first child in Texas, and the second in the entire United States, to receive the higher-dose regimen after the FDA approved it on March 30, according to CBS News Texas. He was scheduled for his first treatment under the new protocol the very next day, on March 31, and began treatment for his condition immediately after his diagnosis. The higher dose delivers more medicine to patients faster than the previous standard regimen, which required four loading doses over two months followed by maintenance injections every four months, per Biogen. The new approach instead uses two 50 mg loading doses given 14 days apart before moving to 28 mg maintenance doses every four months.

Each dose of Spinraza is administered by injection directly into the spine, a procedure that requires anesthesia and a lumbar puncture. Jessie required four of these procedures over two months as part of his treatment. Just a few weeks after starting the higher-dose regimen, he began pulling up to stand, and soon after that, he started taking small steps — progress that has made a real difference to the people caring for him, the CBS News Texas report notes.

A Race Against a Degenerative Disease

Left untreated, SMA causes an inability to sit independently, poor head control, and poor crawling ability, and can require respiratory support and swallowing assistance as motor neurons continue to deteriorate. Natural history studies of untreated Type 1 SMA, which accounts for roughly 60% of all SMA diagnoses, show a median survival age of just eight months, with fewer than 10% of affected infants surviving past age two without invasive mechanical ventilation, according to research published on PubMed Central.

Dr. Stephanie Acord, a pediatric neurologist at Cook Children's in Fort Worth, said the treatment changes the lives of children with SMA. Acord has previously presented research on multi-therapy approaches for pediatric SMA patients, including a 2024 Muscular Dystrophy Association presentation showing that children who plateaued after initial gene therapy achieved significant additional motor gains when treated with a secondary therapy like Spinraza, according to FocusOn Neurology. Securing insurance authorization for those secondary or higher-dose therapies remains a major hurdle for many families, the same coverage notes.

Why Early Detection Made the Difference

Jessie's diagnosis at just 7 days old was possible because Texas added SMA to its mandatory universal newborn screening panel in June 2021. The screening uses dried blood spot testing collected within 24 to 48 hours of birth to detect SMN1 gene mutations, according to the Texas Department of State Health Services. That early identification allows treatment to begin before motor neuron degeneration becomes irreversible.

Federal health advisory estimates indicate that universal nationwide newborn screening for SMA can identify roughly 365 affected infants each year across the country, preventing an estimated 50 infants annually from needing mechanical ventilation. Texas alone screens roughly 400,000 newborns annually for dozens of genetic conditions, per Texas Health Steps. Approximately 1 in every 50 people in the United States is a genetic carrier for the autosomal recessive disorder, which occurs in roughly 1 in 10,000 live births when a child inherits two mutated SMN1 genes, though carriers themselves show no physical symptoms.

A Decade of Rapid Progress in SMA Care

Spinraza was first approved by the FDA in December 2016 at a 12 mg dose, becoming the first disease-modifying therapy ever approved for SMA, a milestone that came after decades in which no targeted medical treatment existed to stop motor neuron loss, according to NeurologyLive. Two more treatments followed: Zolgensma, a one-time gene therapy infusion approved for patients under two years old in May 2019, and Evrysdi, the first daily oral liquid medication for SMA, approved in August 2020 and available to patients as young as two months.

The March 2026 approval of the high-dose Spinraza regimen was supported by data from the Phase 2/3 DEVOTE clinical trial, which enrolled 145 patients across multiple age groups and SMA severity levels. Treatment-naive infants who received the higher dose showed a statistically significant 15.1-point average improvement in CHOP-INTEND motor function scores after six months, compared to an 11.1-point decline among untreated controls, according to AJMC. For a family like Jessie's, that data translated into pulling up, standing, and finally, walking.