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As a kid, I organized my hundreds of action figures in buckets. I kept them displayed on a wooden shelf next to my bed, and I knew the exact location of each figure and accessory. Anytime the figures were out of my reach, I relied on the patience…

Researchers have developed new patient-derived cell models of spinal muscular atrophy (SMA) caused by SMN1 mutations as well as the more rare spinal muscular atrophy with respiratory distress type 1 (SMARD1). The cells exhibited structural abnormalities consistent with SMA which could be rescued with gene therapies. Scientists believe the…

I often daydream about the kind of person I’d be if I didn’t have SMA. It’s not so much fantasizing about the physical abilities I’d have, but rather the characteristics that would define me. Would I still be empathetic toward others? Would I still choose resiliency in the…

It didn’t take long for my mom — who, in her own words, is not “retired” but “reliving” — to take advantage of her surplus of free time. Days after settling into the next stage of her life, she started me on a new exercise regimen: regular 15-minute…

It can be fun to let our imaginations run wild with the idea of choosing a superpower. The possibilities are endless, practically begging to be explored by creative minds. Superpowers might be things of fiction, but I can’t help wondering how my real life might influence my answer. Could…

“You just have to get through one more procedure,” I told myself as I pierced my tongue with my teeth while a needle stung my back. Slow and steady, I tried to take deep breaths to calm my nerves and relieve the pain. But the monitor above me said…

More than a year of treatment with Spinraza (nusinersen) did not result in clinically meaningful changes in cognition for adults with spinal muscular atrophy (SMA), according to a recent study. While patients did not exhibit widespread cognitive deficits, abnormal performance in certain domains was observed. Scores across…

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…