For 7 Days Life was Perfect with New Baby—One Phone Call Changed Everything
Seven days after Jesse was born, a heel-prick test changed everything. Then came a breakthrough his family had hoped for.
When Lupita Vasquez gave birth to her son Jesse in 2024, it was a joyous occasion. She described her pregnancy as typical, unaware of the future challenges ahead. At just a week old, Jesse underwent the standard heel-prick test, a routine procedure in the United States where over 98 percent of newborns undergo screening. However, Jesse's results were alarming.
Newborn screening identifies more than 7,000 infants with treatable conditions annually, enabling early medical intervention. Jesse was one of those infants, diagnosed with spinal muscular atrophy (SMA), a rare genetic disease affecting nerve cells controlling muscle movement. This condition can lead to progressive muscle weakness, impacting abilities such as walking, swallowing, and breathing.
In the U.S., approximately 1 in 14,700 newborns are affected by SMA, with around 9,000 to 10,000 individuals living with the condition nationwide. The diagnosis left Vasquez and her family in shock. She admitted to feeling lost upon receiving the news, turning to the internet for answers, which only heightened her anxiety. Jesse appeared completely normal, making the diagnosis even more difficult to comprehend.
Jesse was quickly referred to specialists, and his mother admitted feeling like a "zombie" upon hearing the neurologist's explanation. SMA is classified into types based on symptom onset and severity. Type 1, the most severe form, emerges within the first six months of life, potentially affecting a baby's ability to breathe and swallow.
Type 2 typically appears between six and 18 months, allowing children to sit but not walk independently. Remarkably, by just 16 days old, Jesse began treatment with Evrysdi (risdiplam), a daily oral medication that increases levels of a crucial protein needed for motor neuron function. Despite this, progress remained limited. His neurologist then recommended a high dose of SPINRAZA, a one-time gene therapy that replaces the faulty gene responsible for the condition.
Jesse became the first patient in Texas to receive this high-dose regimen, which delivers a higher concentration of the drug than the original 12mg dose. The U.S. Food and Drug Administration (FDA) approved this new dosing regimen earlier this year, following extensive clinical data. Initially, Vasquez feared the spinal injection and the requirement for her son to be sedated twice, two weeks apart, before transitioning to regular maintenance doses every four months.
However, taking that risk proved life-changing. Two weeks after the initial high-dose treatment, Jesse started pulling himself up to stand and cruising along walls. About a month after those doses, he began walking independently. Witnessing this transformation was a miracle to Vasquez, dispelling her initial fears. She expressed her gratitude, stating that seeing her son thrive after the diagnosis was everything they had hoped for.
Despite the challenges, Jesse continues to progress, albeit with some difficulty in balance. Vasquez emphasizes that her son's SMA should not define him, highlighting his vibrant personality and adventurous spirit. Now 2 years old, Jesse is a far cry from the baby whose diagnosis turned his family's world upside down. Vasquez advises other parents in similar situations to remain calm, take things one day at a time, and seek support from others who understand their struggles.
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