Columns

My feeding tube became a part of my life amid a series of illnesses that required hospitalization when I was 13. I’d lost a dangerous amount of weight as my body burned through every available resource in an attempt to fight off infections. I was…

Whenever I think about how I started driving my wheelchair at 3 years old, I always wonder, “Whose great idea was that?” I accidentally crashed into furniture. I made plenty of dents in the walls learning how to navigate my new set of wheels. I even accidentally knocked down…

In the North Carolina mountains, spring signifies random weather: gorgeous blue skies, rain, wind, thunder, snow, and freeze warnings — sometimes all on the same day. Buds and blossoms are exploding, and the bees are happy. We noticed the annual duck visitation in the pond and…

Twin girls with type 0 spinal muscular atrophy (SMA) — the most severe form of the disease, which usually leads to death in the first months of life — are alive nearly two years after receiving early treatment with the gene therapy Zolgensma (onasemnogene abeparvovec-xioi), according to…

The 2014 film “Boyhood” caught the attention of audiences and critics upon its release for its wildly experimental approach. Writer-director Richard Linklater spent 12 years making the movie, following the main character, Mason, from elementary school until he went away to college. Linklater used the…

GenQA is asking people with spinal muscular atrophy (SMA) and their families in the U.K. to donate a small blood sample that will help the company determine if newborn screening tests are accurate and reliable. The U.K.-based company, operated by the Oxford University NHS Foundation Trust, provides…

As humans, we so often want everything to fit into tidy little boxes with labels that clearly identify the contents. But while we may be able to draw a few parallels, life isn’t exactly like organizing a storage closet. It’s more complicated than that. That knowledge doesn’t always stop…

Some of life’s best lessons come from the beach. Don’t you agree? Maybe it’s because I’m a solar-powered soul, but the beach is my happy place. It’s where I go when I need to recharge and clear my head. There’s something about the sound of waves crashing onto the…

A pilot study describes how researchers successfully implemented a newborn genetic screening in Osaka, Japan, to identify infants with spinal muscular atrophy (SMA) as early as possible. No false-positive results occurred in about 23,000 samples screened in the study; after implementation, newborn screening detected one presymptomatic SMA infant…

If you regularly read what I write, you’ll know that whether you have a rare disease or not, I have similar emotions and thoughts as everyone else. Yet, the medical symptoms I experience from SMA must seem completely foreign to anyone who doesn’t live through…