When I was 11 years old, I had pneumonia and spent the week before Christmas in the intensive care unit. Because I have SMA, my pulmonary functions are weaker, and when I get sick — even with a common cold — it can quickly become something much worse. I’ve…
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A new review of studies from six countries reveals that incorporating spinal muscular atrophy (SMA) into newborn screening (NBS) programs yields clinical improvements and reduces healthcare spending, particularly when paired with presymptomatic treatment. “These results collectively indicate that NBS for SMA, when combined with presymptomatic treatment, is not only…
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 shoot I’d been dreaming of for over a year. Then, in a…
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 Zolgensma and Itvisma, which is intended to increase levels of…
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 with premenstrual dysphoric disorder years before my pregnancy, so regular mental…
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 heart. Everything my mom does for me, which is a lot, comes from that same place.
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