I’ve been putting off this column for months, I guess in the hopes that it’d become easier to write. I didn’t want to go public until I knew for sure that everything was going to be all right, hence my disappearance; my column was the only public-facing endeavor I maintained.

Richard Finkel, MD, a pediatric neurologist at St. Jude Children’s Research Hospital, was included on a list of 100 individuals having a positive influence on global health in 2025, in recognition of his work treating childhood neuromuscular disorders such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Finkel…

Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less costly, a study reports. The new technique was also able to detect one copy…

SMA Europe will host its 1st International Clinical Care Symposium on SMA and focus on the biological causes of spinal muscular atrophy (SMA) and how to prevent and manage the symptoms that may lead to life-threatening emergencies. Titled, “Medical Emergencies in SMA: pathophysiology, prevention, and response,” the…

One of my favorite pastimes is cruising the sidewalks of our downtown area all by myself. I have a wheelchair-accessible van, but I need my friends to drive it, which means I rarely go anywhere in public alone. There have been seasons in my adult life, though, when I’ve lived…