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As many readers of this column may know, SMA is considered a rare disease. But what some may not know, or simply overlook, is that people with SMA don’t share the exact same experiences. When I think of my experiences, I think of math class…

The U.S. Food and Drug Administration (FDA) has given fast track designation to Biohaven Pharmaceuticals‘ experimental medicine taldefgrobep alfa for the treatment of spinal muscular atrophy (SMA). The designation is granted to therapies that show potential in addressing serious conditions for which available treatments fall short. It…

Rarely have I not received the best treatment available for my SMA. Doctors and nurses have been proactive in giving me aggressive care to prevent me from getting sick. But when I do, my medical team, including my mom, is aggressive enough in its care to prevent…

My voice was off-pitch. I was too nervous. Though the casting directors for Singapore’s nationally televised talent show for children, “One Minute of Fame,” gave no obvious reaction, I realized the problem the second air left my lungs. Still, with all the boldness of an 8-year-old covered in makeup…

Treatment with bicalutamide and trehalose extended survival and improved motor function in a mouse model of spinal and bulbar muscular atrophy (SBMA), a study has found. Both compounds had beneficial effects on some aspects of muscle fiber structure and reduced cell death. While bicalutamide also lowered levels of…

A gentle hand shook me awake. The practice of “shaking me awake” originated with my caregiver, Danielle, who was accompanied by her 3-year-old daughter. Elena took it upon herself to wake me up. Every morning, a tiny little hand would touch my face, followed by a whispered warning.

The Tufts Medical Center, a teaching hospital of the Tufts University School of Medicine, has been awarded a Muscular Dystrophy Association (MDA) grant to investigate patient access to treatments for spinal muscular atrophy (SMA) and other diseases. The project, led by James Chambers, PhD, will evaluate access…

Life doesn’t always flow the way it’s supposed to, and by “flow,” I mean literally. I’ve recently been experiencing a lot of issues with my nasojejunal (NJ) tube. It’s become more difficult to place each time it needs to be exchanged. It clogs much more easily…

A gene-silencing therapy designed to lower the levels of two proteins was found to improve muscle strength and coordination in a mouse model of spinal and bulbar muscular atrophy (SBMA), a new study shows. The therapy, which targets the protein lysine-specific demethylase 1 (LSD1) and the protein arginine…

I have a gift inherited from my late musician mother. Simple melodies or complete orchestral scores, favorite old songs, two-piano music we played, my own original tunes, or a conglomeration of all of the above play inside my head, on demand or out of the blue. James Taylor’s…