New Treatment Can Help Fresno Infant With Rare Genetic Disorder

A Fresno family is holding onto hope after their baby was diagnosed with a rare genetic disorder. Visits to Valley Children’s Hospital have become the norm for Jocelyn Thompson, Marcus Servantes and their young son. “He had his 25th blood draw,” Thompson shared. “He turns three months old this Saturday.” Six days after Mateo was born, they found out he had a hereditary disease called Spinal Muscular Atrophy, or SMA.

“It came back that Matteo was missing this particular gene strand, which meant that he had SMA,” Thompson recalled. The disease is essentially attacking Mateo’s nerves and muscles. “These motor neurons are important. They communicate with the muscles to make them work properly,” said Dr. Raymund David, the neuromuscular director at Valley Children’s. “So without these motor neurons, activities such as swallowing, breathing, and moving actually get affected.”

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