When Lupita Vasquez welcomed her son, Jesse, in 2024, it was one of the happiest days of her life. However, just a week after he was born, she received a phone call that changed everything. Vasquez had given little thought to the routine heel-prick test Jesse received after birth—as do most parents.
It is standard procedure across the United States, where more than 98 percent of newborns are screened shortly after birth. But Jesse's results were different. Each year, newborn screening identifies more than 7,000 infants with serious yet treatable conditions, enabling medical intervention to begin before symptoms emerge.
Jesse was one of those children. During the call, Vasquez was informed that the test indicated her son had spinal muscular atrophy (SMA), a rare genetic disease that affects the nerve cells controlling muscle movement. The condition causes progressive muscle weakness and can affect walking, swallowing, and breathing.
In the U.S., it affects about 1 in 14,700 newborns, with roughly 9,000 to 10,000 people living with the condition nationwide. The diagnosis left Vasquez and her family stunned. I went straight to Google, which I shouldn't have done, because it made me even more scared.
I cried a lot,” she said. It was harder because Jesse looked completely normal. I couldn't understand it.” Jesse was quickly fast-tracked into specialist care, with appointments with pediatricians and neurologists.
Type 1, the most severe common form, develops in the first six months of life and can affect a baby's ability to breathe and swallow. Type 2 usually emerges between six and 18 months, allowing children to sit independently but not walk unaided. By 16 days old, he had started Evrysdi (risdiplam), a once-daily oral treatment that works by increasing levels of a key protein needed for motor neuron function.
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