Columns

Given the hair-raising books and movies I favored growing up, you’d think I’d have uttered a scream at some point. Genuine screams, however, were reserved for roller coasters until my husband, Randy, became a football coach. Then I morphed into a maniac. Granted, I considered my high-decibel screams warranted…

Researchers have developed a new mouse model that exhibits the features of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, or SMA-PME — a rare type of the rare disorder characterized by seizures that typically start during childhood. The mice, which exhibited motor and sensory impairments, were found…

People-watching is one of my favorite things to do at Disney World. It’s a free and accessible activity, and it comes with more surprises than any of the hundreds of rides at the parks. Whereas “It’s a Small World” gets repetitive after a while, observing the public pitfalls…

As hopeful as I was when starting naturopathy, I didn’t actually expect anything to come of it. Desperate for relief and having tried everything else, I decided it was worth a shot. At the least, I could return to my doctor with the hopeless certainty of someone who…

Scientists at The Jackson Laboratory — a U.S.-based biomedical research nonprofit — were granted $22.8 million by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH), for a novel method to develop gene editing therapies for neurological disorders, including…

Current therapeutic approaches have helped to improve motor function in the majority of children with spinal muscular atrophy (SMA) type 1 in Spain, a study reports. The study, “Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish…

Note: This column describes the author’s own experiences with Evrysdi. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. Surrounded by beeping machines, monitors, wires, and tubes, I had trouble feeling like anything more than a patient during my…

Adults with spinal muscular atrophy (SMA) who start treatment with Spinraza (nusinersen) tend to see the most dramatic early improvement in muscle strength in the shoulders and upper arms, a new study suggests. The treatment also tended to improve thumb strength, which researchers note may be important…

Spinraza (nusinersen) carries relatively few side effects and nearly halves the odds of children and adolescents with spinal muscular atrophy (SMA) having serious or fatal side effects compared with a placebo, according to a meta-analysis. The study, “Adverse events in the treatment of spinal muscular atrophy…

Crying the moment I saw Taylor Swift on stage wasn’t something I expected to happen. But it wasn’t completely unexpected, either. I realize I’m contradicting myself here, but emotions will do that to a person. They’ll feel exhilarating and paralyzing simultaneously, and yet somehow manage to create something cathartic.