Community Perspectives

Last month’s approval of Novartis‘ one-time gene therapy Itvisma (onasemnogene abeparvovec-brve) for people with spinal muscular atrophy (SMA) ages 2 and older is a milestone that “ushers in a new era of informed…

When I was 11 years old, I had pneumonia and spent the week before Christmas in the intensive care unit. Because I have SMA, my pulmonary functions are weaker, and when I get sick — even with a…

A new review of studies from six countries reveals that incorporating spinal muscular atrophy (SMA) into newborn screening (NBS) programs yields clinical improvements and reduces healthcare spending, particularly when paired with presymptomatic treatment. “These results collectively…

When I returned from the annual Cure SMA conference this summer, I knew something needed to change. I made a list of everything I’d been putting off, like finding a new therapist and setting up the photo…

Mifepristone, a glucocorticoid blocker, increased survival and muscle size in a mouse model of spinal muscular atrophy (SMA), according to a recent study. Combining mifepristone with a gene therapy construct similar to the one used in…

Our daughter, Charlie-Anne, was born on June 22, 2009. When the doctor handed her to me, I was shocked to see a full head of beautiful, red hair. I was instantly in love. I had been diagnosed…

Every morning, after relieving the night nurse, my mom walks toward my bed. “Snookums!” she lovingly calls out when she sees that my eyes are open. It’s a nickname that comes straight from her…

Our granddaughter, Clara, turns 10 this month. She loves choosing themes for her birthday parties, and “PopPop,” as she calls my husband, Randy, challenges himself to design and bake elaborate cakes to match. This year’s theme is…

Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improved motor function in children with spinal muscular atrophy (SMA) who needed tracheostomy, without posing new safety risks, a real-world study showed. Tracheostomy is a surgical procedure that creates an opening in…

Seeking inspiration for this week’s column, I asked: “Hey, Mom. What is a favorite memory you have of our family traditions during the holidays?” “That’s easy,” came the surprisingly immediate response. “Sugar cookies.” The two words brought…