As I write this, my dad debates the longevity of one of my favorite dresses. I bought it used, so I don’t feel bad retiring it. But my dad is hesitant, despite the fact that he throws a fit every time I put it on. I’m purging my wardrobe, so…

In the first year of a newborn screening program for spinal muscular atrophy (SMA) in Japan, more than 10,000 babies were screened and one tested positive for the disease, according to a new study. The baby with SMA was able to receive the gene therapy Zolgensma (onasemnogene abeparvovec-xioi)…

If you’re a regular reader of my column, you might have noticed that it usually ends with a positive spin. Once, I even wrote about being thankful for things that don’t seem very good. I won’t deny that life with SMA has negative aspects, but whenever possible,…

The other day, I had an appointment at the hospital to change my nasojejunal (NJ) feeding tube. Since the tube is placed in my jejunum, a part of the small intestine, and not my stomach, these procedures have to take place under fluoroscopy…

Compared to what would be expected without treatment, the approved oral therapy Evrysdi (risdiplam) led to marked benefits in survival and motor outcomes for babies with spinal muscular atrophy (SMA) type 1, according to a comparison of clinical trial data. “Untreated infants with Type 1 SMA … reached…

Thinking about parallel universes can be scary. Sometimes, though, it’s necessary to think about the scary what-ifs in order to be more aware of the positive things in life. More on this in a minute. For my friend and fellow columnist Halsey Blocher and me, looking at the bright side…

The homework assignment in fifth grade involved music. I probably wrote a few short reports about composers and attempted to draw some instruments with my dual-ended map colors. I wrote “Music” on the outside of the blue folder and added some spiffy artwork. Good spelling came naturally…

I recently attended my first pop culture convention since the onset of the COVID-19 pandemic. Masked up, I felt right at home among the crowds of “Star Wars” and “Stranger Things” cosplayers passing by. Though it had been three years since my last con, I eagerly anticipated a day…

As part of this column, I’ve taken to recording encounters with ignorant — if well-meaning — healthcare providers. Fortunately for me, those encounters have been few and far between. But that doesn’t make those few-and-far-between encounters any less frustrating. A few months ago, I wrote about a trip to…

Moxifloxacin, an antibiotic with a well-established safety profile, boosted production of the SMN protein in cellular models of spinal muscular atrophy (SMA) and it extended the lifespan and improved motor function in mice with the disease, a new study reports. “Preclinical data from patient-derived MNs [motor neurons] and a…