Genetic Testing Is Providing New Hope for Babies Born with Mysterious Ailments

Within hours of entering the world, little Sebastiana Manuel’s entire body froze in a rigid spasm. Her neck twisted, her face turned blue, and one side of her body stiffened as if someone were yanking her violently. She screamed.

At first her doctor wasn’t too concerned; some newborns have seizures. But Sebastiana’s kept coming every few hours. And the way her arms and legs stiffened during each episode was unusual. When her mother Dolores Sebastian tried to breast-feed her, she wouldn’t eat. After the baby’s body convulsed more than a dozen times in her first night, an ambulance rushed her from the local hospital in Fallbrook, Calif., where she was born, to the only advanced-care children’s hospital in the area, Rady Children’s Hospital in San Diego.

But even the specialists there were baffled by Sebastiana’s symptoms. As doctors hooked up her brain to monitors and conducted test after test from her crib in the neonatal intensive care unit (NICU), Dolores and her husband Pascual Manuel couldn’t touch or hold their baby. The nurses used one of Dolores’ shirts as a pillow so Sebastiana could still smell her mother’s scent and know that she was there.

Read More