My aunt, who doesn’t throw anything away, recently sent me an artifact from my childhood: a pink paper pamphlet titled “Meet Connie.” I was diagnosed with SMA type 2 when I was 18 months old and started using a power wheelchair when I was in first grade. Around the…
The use of disease-modifying therapies (DMTs) — all widely approved in the last 10 years — may help children with spinal muscular atrophy (SMA) maintain nutrition and prevent stunted growth, an Australian study suggests. Children with SMA type 1 and type 2 who received approved DMTs…
Treatment with Spinraza (nusinersen) was linked to measurable changes in a range of cerebrospinal fluid (CSF) biomarkers in people with spinal muscular atrophy (SMA), some of which were associated with improvements in motor function, according to a review of published studies. Among the protein changes seen in CSF,…
Discussion
“You must have dropped the baby.” That sentence was one of the many knives flung at my mother’s chest when I was diagnosed with SMA. She was 24, barely an adult. I was a difficult pregnancy, born a full month before I was due. My birth would’ve been even…
Discussion
Three months ago, my husband, Randy, and I adopted Ellie, a mama dog who had been at the rescue for four months. She arrived with six puppies, tending to another litter after hers were adopted. “Tending” might be a stretch. When we saw Ellie, her interim miniature charges…
Evidence-based guidelines have been developed for newborn screening (NBS), diagnosis, and early management of spinal muscular atrophy (SMA) in Australia and New Zealand to help ensure that all affected children are identified and treated as early as possible. “The study informs best practice within a new diagnostic and therapeutic…
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