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For 7 Days Life was Perfect with New Baby—One Phone Call Changed Everything

For 7 Days Life was Perfect with New Baby—One Phone Call Changed Everything

Summary

Lupita Vasquez’s newborn son, Jesse, was diagnosed with spinal muscular atrophy (SMA), a rare genetic disease that weakens muscles. Early detection through a routine newborn screening helped start treatment quickly, including new high-dose medication approved by the FDA.

Key Facts

  • Jesse was diagnosed with SMA shortly after birth through a routine heel-prick test given to most U.S. newborns.
  • SMA is a genetic disease affecting nerve cells that control muscle movement, causing muscle weakness and breathing problems.
  • Jesse has Type 1 SMA, the most severe form, which appears in the first six months of life.
  • He began treatment at 16 days old with Evrysdi, a daily oral medicine that supports nerve function.
  • Jesse also received Zolgensma, a gene therapy that replaces the faulty gene causing SMA.
  • When progress was limited, his doctors prescribed a high-dose of SPINRAZA, a drug injected into the spinal fluid.
  • The FDA recently approved this higher dose of SPINRAZA based on over ten years of research.
  • Jesse was the first child in Texas to receive the high-dose SPINRAZA treatment.
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