I consider myself an optimist, at least most of the time. Life has hurled more than a few lemons our way over the years; thankfully, I like lemonade. In 1997, when my husband, Randy, lost his job mere weeks before our third baby’s due date, I felt like we’d been…
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Slightly more than half of spinal muscular atrophy (SMA) patients in Australia who gave feedback for a study on how well they thought their treatments worked did not notice any improvement. The researchers said the results suggest a need for better, more comprehensive healthcare. More children than adults with…
I was always a “Star Wars” acolyte, but I became interested in the world of the “Star Trek” science fiction franchise when I was in high school. Whereas “Wars” is a giant space opera that takes place in the distant past with characters from a faraway galaxy, “Trek”…
It’s 2014. I’m months-deep into a major depressive episode. Nothing is enjoyable, not even my all-time favorite video game. I feel listless in the worst of ways. Several of my friends are playing “Dragon Age: Inquisition” (DAI), the latest installment in the long-running video game franchise by developer BioWare.
Some 70% of children with spinal muscle atrophy (SMA) type 1 who underwent treatment with Spinraza alone or with Spinraza and then Zolgensma reached some motor milestones over 18 months, with greater improvements in those who received Spinraza early followed by Zolgensma, according to a small study. Ninety…
The use of advanced genetic testing techniques helped clinicians in China to identify novel mutations in the SMN1 gene in two unrelated children — and thus correctly diagnose them with spinal muscular atrophy (SMA), according…
“No, I’m totally fine” are often my famous last words when I’m actually not fine at all. Sometimes when an illness arises, I’ll downplay my symptoms. I’ll chalk them up to having a bad day while disregarding my intuition that tells me something is wrong. As it turns out,…
I bravely soar to meet the challenges of SMA with determination and a can-do attitude. But despite my positivity, certain things get me down sometimes. I feel discouraged whenever I think about how only the few people closest to me know who I truly am on the inside. I…
The muscle fibers of children with spinal muscular atrophy (SMA) type 1 are substantially different from those of age-matched peers early in life, a study found. Muscle fibers are the basic units of muscle tissue that contract to allow movement. The differences were evident in levels and types of components…
