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People with spinal muscular atrophy (SMA) types 2 or 3 who start treatment with Spinraza (nusinersen) and show less muscle damage on MRI scans are more likely to see motor function improvements, a new study reports. The finding “underscores the importance of early diagnosis and treatment to…

Last year, my brother and I plotted to round up our respective families for Thanksgiving. It was a daunting effort. Our family branches are scattered over three states, and, as usual, work schedules conflicted. Alas, thanks to some angel intervention and alignment of enough stars, we managed to come…

Without disease-modifying treatment (DMT), spinal muscular atrophy (SMA) carries high mortality rates and steep healthcare costs, a study in Hong Kong reported. Not surprisingly, the greatest loss of life and highest costs were observed in children with SMA type 1, one of this disease’s most severe forms…

My life flashed before my eyes. Or, to be more specific, all the meals I’ve eaten in my life flashed before my eyes. I’d determined with complete certainty that I was lactose intolerant. My symptoms aligned perfectly — namely, I experienced gastrointestinal issues after ingesting dairy products. I’d finally…

A new system that contains a gene-modulating therapy attached to an antibody that enables crossing into the nervous system improved survival outcomes in a mouse model of severe spinal muscular atrophy (SMA), a new study reports. The study, “Antibody-oligonucleotide conjugate achieves central nervous system delivery…

I tend to attract attention while out in public. It’s not really because I behave in a way that draws attention. It’s just that people in wheelchairs toting a menagerie of medical equipment and an entourage are highly noticeable, whether we want to be or not. Ironically, we stand…

Does anybody actually like the sound of their own voice? Unless you’re a gifted singer, that was a rhetorical question. I come from a musically inclined family, so they tend to say yes when I ask this question. But for me and many of those outside my family, the…

The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) was safe and effective in a baby girl with spinal muscular atrophy (SMA) type 1 who was previously on Evrysdi (risdiplam) for about three months, a case study reports. This likely represents the first report of safety and efficacy outcomes…

Today I want to talk about something very special to my heart: setting goals; and not just for 2023, but also 2024 and 2025. Creating future goals excites me and gives me hope during life’s many storms. I hope you’ll get excited with me. Have you ever worked…

Since billionaire Elon Musk bought Twitter in late October, I’ve stumbled into the role of being my family’s resident reporter about all things related to the site. It started when Musk gutted entire essential teams with a mass layoff. Then a new verification system allowed people to impersonate…