New treatment for SMA offers hope for Arianna

For the first few months of Arianna Condon’s life, everything was moving along fine. She was a happy baby, and seemed to be developing much like her older sister, Tessa. “She was gaining weight, and seemed to be doing great,” says Arianna’s mom, Marina. “She did have problems with reflux, but it was nothing too unusual for a baby.” But by the time Arianna was 3 months old, Marina started to have concerns. Arianna wasn’t lifting her head the way Tessa had at that age. Something didn’t seem right. “I brought it up to her pediatrician, but she told me that all babies develop differently and there wasn’t a cause for concern at that time.” At 5 months, Arianna still couldn’t lift her head, and had developed some other unusual symptoms. Marina noticed she used her belly to breathe and her muscles seemed weak and floppy. A different pediatrician at a follow-up visit shared Marina’s concerns and suggested they make an appointment with the Department of Neurology at Boston Children’s Hospital. A difficult diagnosis At the appointment, the neurologist did an assessment and ordered an electromyography (EMG) test, which is an electrical testing of the nerves and muscles. The results weren’t encouraging. They suspected spinal muscular atrophy (SMA), a rare genetic condition that causes weak muscles throughout the body. Infants diagnosed with SMA usually have type I, the most severe form. Many children with type I do not live past 2 years. The diagnosis nee...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Dr. Basil Darras spinal muscular atrophy spinal muscular atrophy program Spinraza Source Type: news