Nearly all children with spinal muscular atrophy (SMA) who were started early on Evrysdi (risdiplam) in a clinical trial — as newborns, before the onset of symptoms — are now walking after three years on the approved oral therapy. Further, most of the youngsters also have no need…
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The fall of 1996 brought the usual glorious colors, cooler weather, and a whammy of a news bulletin: I was pregnant. In our 40s, my husband, Randy, and I adjusted as well as possible, as did our equally stunned son, Matthew, who was 10. Our ecstatic daughter, Katie, then 7,…
A few years ago, a good friend of mine named Essie found out that her newborn daughter had been diagnosed with SMA. She reached out to me then, as she knew I had SMA, too. She had so many questions, so I went to my mom because she is…
A preclinical study found that blocking the SMPD1 enzyme with available drugs such as the antidepressant clomipramine increases the levels of SMN, the protein missing in spinal muscular atrophy (SMA), potentially offering a new treatment strategy. “The strategy presented here represents not only a new therapeutic approach for this…
Have you ever solved the world’s problems? I have. Well, sort of. That’s what we say we’re doing when Mom and I get together for coffee with our friend Connie Chandler, a fellow SMA News Today columnist. Our deep conversations often feel like they provide answers…
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