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When I returned from the annual Cure SMA conference this summer, I knew something needed to change. I made a list of everything I’d been putting off, like finding a new therapist and setting up the photo…
Mifepristone, a glucocorticoid blocker, increased survival and muscle size in a mouse model of spinal muscular atrophy (SMA), according to a recent study. Combining mifepristone with a gene therapy construct similar to the one used in…
Our daughter, Charlie-Anne, was born on June 22, 2009. When the doctor handed her to me, I was shocked to see a full head of beautiful, red hair. I was instantly in love. I had been diagnosed…
Every morning, after relieving the night nurse, my mom walks toward my bed. “Snookums!” she lovingly calls out when she sees that my eyes are open. It’s a nickname that comes straight from her…
Our granddaughter, Clara, turns 10 this month. She loves choosing themes for her birthday parties, and “PopPop,” as she calls my husband, Randy, challenges himself to design and bake elaborate cakes to match. This year’s theme is…
Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improved motor function in children with spinal muscular atrophy (SMA) who needed tracheostomy, without posing new safety risks, a real-world study showed. Tracheostomy is a surgical procedure that creates an opening in…
Seeking inspiration for this week’s column, I asked: “Hey, Mom. What is a favorite memory you have of our family traditions during the holidays?” “That’s easy,” came the surprisingly immediate response. “Sugar cookies.” The two words brought…
A high-dose regimen of nusinersen — the active ingredient in Spinraza — has been recommended for approval to treat spinal muscular atrophy (SMA) by the Committee for Medicinal Products for Human Use (CHMP), a branch of…
“Sherry has big dreams!” my neurologist once told my mom while explaining the difficult decisions my medical team had to make, adding that the team was doing its best. At the time, I had wanted to become a video…
For many years, there was a quote hanging in our local zoo, but I no longer remember if it was by Edmund Burke, who (rightly or wrongly) is credited as saying, “Nobody…
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