Columns

In real-world settings, the one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) is well tolerated and improves motor function outcomes in children with spinal muscular atrophy (SMA) — especially when given at ages younger than 8 months — a study in Israel found. Treatment with Zolgensma also was found…

Actor Ethan Hawke has a TED Talk titled “Give yourself permission to be creative.” In it, he speaks not just to professional and aspiring artists, but to every person’s need for human expression. He talks about how creativity exists in things like leadership, and how embracing our…

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. I was expecting my insurance to turn up their nose at renewing my Evrysdi (risdiplam) prescription to treat my…

In the late summer of 2021, we took a family vacation to Orlando, Florida. Our resort had an accessible outdoor pool, so we couldn’t resist spending a sunny morning relaxing in the glittering water. As I sat in my mom’s lap, my smaller, floppy body held upright…

“Why is she in a wheelchair?” is one of the most common phrases I hear when I’m out and about. Funnily enough, I’ve grown so accustomed to staying home these past few years that I almost forgot what it felt like to be the subject of someone’s curiosity.

The loss of SMN protein in spinal muscular atrophy (SMA) may lead to disease features by causing a deficiency in another enzyme called ALDH1A2, which is essential for the maturation and expansion of motor neurons, the cells that are lost in SMA, according to a new study. The…

A surprise pregnancy hurled my husband, Randy, and me way off guard in the fall of 1996. There were gasps aplenty when our peeps received the news, as we were both in our 40s and already weary of hawking fundraiser wrapping paper. Our bonus baby, Jeffrey, arrived on…

The MiR34 family of microRNAs represents a set of promising biomarkers to assess therapeutic response in spinal muscular atrophy (SMA), a study proposes. MicroRNA levels in the cerebrospinal fluid (CSF), the liquid surrounding the brain and spinal cord, before and during therapy, predicted and correlated with improved motor…

Treatment with Spinraza (nusinersen) for two years led to improvements in apnea and oxygen saturation during sleep in children with spinal muscular atrophy (SMA), a real-world study in Australia reported. The treatment also contributed to ceasing ventilation support in some patients with less severe disease, and stabilized…

When I was a little girl, I had many life-threatening hospitalizations, the first at 16 months of age. Ten months after I was diagnosed with SMA, I experienced my first bout with respiratory syncytial virus and was intubated for weeks. Though I was too young to…