Reflecting on the perks of being a wheelchair user
“It must be nice sitting in that thing all day.” Having lived with SMA for 32 years and used a power wheelchair since I was 2 years old, I’ve heard some version of this comment many times.
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Blocking small molecule improves motor symptoms in SMA mice
Blocking a small RNA molecule called miR-140-3b can improve motor function in a mouse model of spinal muscular atrophy (SMA), a study suggested. Reducing miR-140-3b activity increased the levels of KIF5A, a protein involved in the transport…
Genetic engineering eases motor symptoms in SMA mice
Modifications that help certain genetic information travel to specific parts of nerve cells can ease motor symptoms and help normalize communication between nerves and muscles in a mouse model of spinal muscular atrophy (SMA), a study reported. SMA…
Self-doubt and the endless pursuit of a fulfilling life
In the true fashion of a passionate actor, Neil Newbon opens a TEDx Talk by imitating an ape — a choice inspired by his role voicing the lead ape in the video game “Planet of the…
Prenatal therapy extends survival in SMA mice, study finds
A one-time treatment designed to correct a single letter, or base, in the SMN2 gene increased levels of the survival motor neuron (SMN) protein — which is lacking in spinal muscular atrophy (SMA) — and prolonged survival in…
What receiving care from a friend taught me about giving care
“If you need anything at all, don’t hesitate, just give me a yell!” Pam says on Saturday nights as she tucks me into bed. “OK, you, too!” I reply, and we giggle and bid each other…
Coordination lacking in transition from SMA pediatric to adult care
In a new interview-based study, adults with spinal muscular atrophy (SMA) reported a lack of care coordination during their transition from pediatric to adult care settings — along with poor communication, no clear transition plans, and…
Headache? Brain tumor? Unpacking the roots of illness anxiety
As a lifelong proponent of therapy, I go through phases. Sometimes I don’t need the support. Sometimes I do, so I go through the whole rigamarole of finding a practitioner I vibe with. It’s not a fun process.
Almost all kids given early Evrysdi walking 3 years later: Trial data
Nearly all children with spinal muscular atrophy (SMA) who were started early on Evrysdi (risdiplam) in a clinical trial — as newborns, before the onset of symptoms — are now walking after three…
The sustained intensity of indelible memories of SMA, and of Jeffrey
The fall of 1996 brought the usual glorious colors, cooler weather, and a whammy of a news bulletin: I was pregnant. In our 40s, my husband, Randy, and I adjusted as well as possible, as did…