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“It won’t be this way forever, right?” This has become a sort of refrain for my dad and me over the past couple of years. Whenever we’re overwhelmed, we turn to each other and ask for confirmation. Whatever we’re struggling with in the moment, whatever has us down for…
The motor function of children with spinal muscular atrophy (SMA) improves significantly in the early stages of treatment with Spinraza (nusinersen), namely within its two-month loading dose period, a study reported. No changes in nutritional status — as assessed by weight — were seen then, however, likely…
In people with spinal muscular atrophy (SMA) who have been on long-term treatment with Spinraza (nusinersen), levels of the protein tau in the spinal fluid are decreased, a new study indicates. The findings imply that measuring levels of tau might be a useful marker for predicting the…
A new computational tool developed by Pacific Biosciences can identify genetic mutations that cause spinal muscular atrophy (SMA) with high accuracy and could help identify “silent carriers” who aren’t detected by current tests, a new study reports. The study, “Comprehensive SMN1 and SMN2 profiling…
Weeks ago, when I had the idea to write a monthlong series on limiting stories, I identified three areas of interest: my love life, my friendships, and my career. In my mind, this series was an opportunity to dig deep. What stories have I been telling myself, and…
People with spinal muscular atrophy (SMA) being treated with Spinraza (nusinersen) received most of their injections at recommended times, according to real-world data from two large U.S. databases. In an electronic health records (EHR) database, adherence to treatment was similar in the maintenance and loading phase of…
Have you ever felt like there could be someone spying on you by listening to your private conversations? Well, perhaps that sensation is being caused by your virtual assistant. Yes, I’m talking about those helpful little devices that sit on the corner of the table or dwell in your…
The best advice I could ever give someone is simple: Get more dogs. I guess if cats are more your thing, that’s OK, too. What’s important is that no matter the animal, they bring you joy. After all, that’s what pets are — endless amounts of joy and unconditional…
Researchers in Japan are conducting a study to better understand the natural history of spinal muscular atrophy (SMA) and how well disease-modifying therapies work in the real-world setting. The Biogen Japan-sponsored study will draw on data from the Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA),…
As it is still early in 2023, this is a good time for me to evaluate what things I’m doing right and what things I can improve upon. And to ask myself what specific actions I can take to make more of a difference. I emphasize “actions,” because…
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