One week after Jesse's 2024 birth, routine newborn screening identified Type 1 spinal muscular atrophy (SMA). He began Evrysdi at 16 days and later received Zolgensma, but motor progress stalled until clinicians recommended a newly approved high‑dose SPINRAZA regimen. As the first child in Texas to receive the higher dosing, Jesse rapidly gained strength—pulling up, cruising and walking within weeks. Now two years old, he continues to improve and his mother urges parents to seek support and avoid worst‑case online searches.
One Phone Call, A New Path: How Early Screening and High‑Dose SPINRAZA Helped Baby Jesse Walk
Lupita Vasquez and her son Jesse.
When Lupita Vasquez welcomed her son Jesse in 2024, the birth felt perfect—until a single phone call seven days later changed everything. A routine newborn heel‑prick screening, performed in more than 98% of U.S. births, flagged spinal muscular atrophy (SMA), a genetic condition that can cause progressive muscle weakness.
Diagnosis and Immediate Response
Newborn screening programs in the United States identify more than 7,000 infants each year with serious but treatable conditions so that intervention can begin before symptoms appear. Jesse was diagnosed with Type 1 SMA—the most severe commonly seen form—which can affect breathing, swallowing and early motor milestones.
Lupita Vasquez is seen with her son Jesse waiting in the hospital.
Vasquez remembered feeling stunned and searching online before she connected with specialists. She said it was frightening because Jesse looked healthy and she initially didn’t understand how he could have SMA.
Treatment Timeline
Because early treatment is critical, Jesse began Evrysdi (risdiplam), a once‑daily oral medication that raises levels of the survival motor neuron (SMN) protein, at 16 days old. He later received Zolgensma, a one‑time gene‑replacement therapy designed to correct the faulty SMN1 gene responsible for the disease.
High‑Dose SPINRAZA: The Turning Point
When Jesse's motor progress lagged despite earlier therapies, his neurologist recommended a higher‑dose regimen of SPINRAZA (nusinersen). Delivered into cerebrospinal fluid via lumbar administration, SPINRAZA helps the SMN2 gene produce more SMN protein. The U.S. Food and Drug Administration approved an increased dosing regimen earlier in the year after extensive clinical data supported its use.
Jesse since taking his first steps.
Jesse became the first patient in Texas to receive the high‑dose SPINRAZA protocol. The plan included two sedated administrations two weeks apart, followed by maintenance doses every four months. After the initial high‑dose treatments, improvement was striking: within weeks he was pulling himself to stand and cruising along furniture; about a month later he took independent steps.
Vasquez said the rapid change moved the family to tears. She admitted being fearful of the spinal procedure and the sedation, but called the decision to proceed "worth it" after seeing Jesse walk.
Life Now and Practical Advice
Now two years old, Jesse continues to make steady gains. He still tires more easily and is refining his balance, but he enjoys soccer, music and toy cars—traits his mother says show how much more he is than his diagnosis.
Vasquez's advice to other parents: avoid spiraling into worst‑case scenarios online, take things day by day and connect with support groups—peer networks made a crucial difference in her own coping.
Context: SMA occurs in approximately 1 in 14,700 U.S. newborns, and an estimated 9,000–10,000 people live with the condition nationwide. Routine screening and timely specialist care can dramatically change outcomes.
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