Robin Collins is a self-described “little old lady.” She’s 4 feet tall in her wheelchair and unexpectedly hurtling toward age 70 while wearing functional, ladylike skirts. Robin has SMA type 3, which was diagnosed before she turned 10. Lately, she’s more vocal, writing down her thoughts and sharing…
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A novel mutation in the ASAH1 gene was identified as the cause of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) in a 4-year-old boy, according to a recent report. Despite the genetically confirmed diagnosis, the boy showed no signs of myoclonic seizures, or brief muscle spasms, which…
My brother’s birthday was July 13. While we generally aren’t able to get together to celebrate, we managed to do so in 1997. Paul’s birthday fell on a Sunday back then, too. At the time, our parents served as innkeepers of the still relatively new family lodge on the…
Every year while I was in high school, I went to a weeklong summer camp with my church youth group. It was my favorite week of the year because I felt like I belonged there more than anywhere else. We played games, sang songs, stayed up talking all night, and…
I turned 30 on June 29, which I suppose is why this year’s Cure SMA conference was so difficult for me. You can’t pass from one decade to another without reflecting on everything you have — or haven’t — accomplished. That type of reflection is particularly difficult when surrounded…
Molecular markers in the liquid that surrounds the brain and spinal cord, called the cerebrospinal fluid (CSF), may help predict how well people with type 2 or 3 spinal muscular atrophy (SMA) respond to Spinraza (nusinersen), a study reports. The study’s researchers found that certain CSF molecules involved…
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