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…
Community Perspectives
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…
SMA culture is changing, but love and joy are still the best treatment
A few years ago, a good friend of mine named Essie found out that her newborn daughter had been diagnosed with SMA. She reached out to me then, as she knew I had…
Preclinical study finds antidepressant may boost SMN
A preclinical study found that blocking the SMPD1 enzyme with available drugs such as the antidepressant clomipramine increases the levels of SMN, the protein missing in spinal muscular atrophy (SMA), potentially offering a new treatment strategy. “The strategy presented…