Baby Gets Gene Therapy Days After FDA Approval, Now Thriving

Catherine Glaub was holding her one-week-old son Samuel when the call came. Doctors told her he had spinal muscular atrophy, a genetic disease that would leave him unable to walk and facing medical challenges his entire life.

SMA is the leading genetic cause of death in infants. Babies with the most severe form struggle to breathe, swallow, and move, with most not surviving past their second birthday.

For years, Dr. Emma Ciafaloni delivered this diagnosis knowing there was nothing she could do. "It has basically been a death sentence," said Ciafaloni, director of the University of Rochester Medical Center's Pediatric Neuromuscular Program.

But everything changed last summer when the FDA approved Zolgensma, the first gene replacement therapy for SMA. The treatment inserts healthy copies of the missing gene directly into spinal cord cells, helping restore muscle strength.

The timing was extraordinary. The FDA approved the therapy just five days before Samuel was born.

Within two days of his diagnosis, the Glaubs were at URMC, the only hospital in New York offering the treatment. Catherine remembers the fear mixed with hope as they prepared for the one-hour IV infusion when Samuel was four weeks old.

Samuel slept through the entire treatment. After a few hours of monitoring, he went home with his parents to wait and see if it worked.

Clinical trials showed babies who received the experimental therapy survived beyond age two, started talking, and gained motor skills. Some children even learned to walk.

The Bright Side

Today, Samuel is doing everything a 10-month-old should do. He's crawling around getting into everything, smiling at his parents and two older sisters, and showing no signs of the disease that should have changed his life forever.

Dr. Ciafaloni sees Samuel monthly to track his progress. "He is doing beautifully," she said, adding that his future is dramatically different than it would have been without treatment.

The breakthrough represents 50 years of research finally reaching families who needed it most. "I never thought I would see this in my lifetime," said Ciafaloni.

The program at URMC brings together neurologists, pediatricians, nurses, therapists, and social workers to deliver the complex therapy. They handle everything from bloodwork to insurance approvals, making cutting-edge treatment accessible to families in crisis.

For the Glaubs, those terrifying first days have transformed into a future filled with possibilities they never thought they'd see.