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Working with the biotech company Genentech never ceases to amaze me. Back in 2019, when Genentech representatives first reached out to me about an upcoming initiative, I had no idea what to expect. They wanted me to attend a meeting, along with several other people in the…

A delayed diagnosis in spinal muscular atrophy (SMA) may occur in many cases due to the absence of clinical suspicion of the rare genetic disorder, an interview-based study concluded. In particular, treating physicians of pediatric patients often disregarded or misinterpreted signs reported by parents, leading to diagnostic delays,…

Children with spinal muscular atrophy (SMA) who have lower levels of an inflammatory protein called interleukin-8 (IL-8) in the fluid surrounding the brain and spinal cord tend to respond better to treatment with Spinraza (nusinersen), a new study suggests. The findings indicate that IL-8 is a better predictor…

“Your 60s you’ll have a major surgery, the music is still loud but it doesn’t matter because you can’t hear it anyway. Seventies, you and the wife retire to Fort Lauderdale, you start eating dinner at 2 o’clock in the afternoon, you have lunch around 10, breakfast the night…

After two years of tweaking, my new wheelchair is home for good. I think. Most wheelchair users dread new devices. There’s the process of submitting the claim to insurance, which is frankly straight from hell. Then there’s the seating — a monthslong process that involves strangers studying your…

Among adults with spinal muscular atrophy (SMA), men show signs of greater disease severity than women, particularly as young adults, according to a recent study. For patients with SMA type 3, a greater proportion of women were able to maintain their ability to walk compared with men. “Gender…

Right about now, most people in the U.S. are preparing for Halloween by buying candy for trick-or-treaters, making costume alterations, and planning parties. That’s all fun, but since childhood, I’ve been drawn toward a different holiday: el Día de los Muertos, or Day of…

After two years of treatment with Evrysdi (risdiplam), most babies with spinal muscular atrophy (SMA) type 1 in the FIREFISH clinical trial are still alive without a need for permanent ventilation, and many of the youngsters are showing continual improvements in motor development. The results were published…

Do you ever look back at experiences from when you were younger and view them differently as an adult? I find myself doing that quite a bit lately. Kids look at life through rose-colored lenses. I see that in the way my little niece and nephew…

It may be annoying to some, but I’m one of those people who look forward to Christmas starting in October. Sorry, not sorry. So many of my favorite memories are either directly or indirectly related to this special day. If you ask my mom, she wouldn’t consider Christmas Eve…