The SMA community today is marked by progress, hope, and loss
A columnist reflects on a quarter century of changes in the world of SMA
My husband, Randy, and I moved our family to the North Carolina mountains in the final hours of 1995. Adventures in our old farmhouse commenced immediately. We considered a newsworthy blizzard and the escape of two flying squirrels from the wall into the dining room ample excitement for a long while — but we considered wrong.
About 18 months after our move, our third baby joined his siblings, Matthew and Katie. Jeffrey was beautiful and surprisingly quiet. His cry and cough barely registered above a whisper, and he only whimpered when he was hungry or needed a diaper change. He never wailed, but I rationalized that someone was constantly at his beck and call, eager to oblige his requests before he made them.
Just as we settled into a routine that seemed almost, well, routine, life as we knew it screeched to a halt. Jeffrey’s docile manners weren’t due to an overly genteel personality, but rather to a rare, genetic nightmare called SMA. The pediatric neurologist informed us that Jeffrey had a severe case of SMA in its deadliest form and likely wouldn’t make it through preschool.
Our thrust into the world of this rare disease was fast and furious. I discovered an organization called Families of SMA (later renamed Cure SMA) and bonded with other families who were either walking in our shoes or had “been there, done that.” Incredulously, some had “done that” more than once.
We searched for alternative treatments to thwart SMA’s insidious nature, desperate to prove the experts wrong. The search became increasingly frantic as summer shifted to fall, rendering respiratory issues an even greater threat. Deaths of babies and children with SMA seemed to come in heartbreaking waves at the time. I didn’t read about many deaths of adults with SMA, as most adults with SMA had a mild form back then. Many simply didn’t reach adulthood.
Treatments with mind-boggling results
Our active SMA duty wrapped up in less than six months, yet the effects of our brief stint linger even today. While some things remain the same — SMA still holds the title of leading genetic killer of children under 2 — some exhilarating changes have taken place. Three treatments currently provide the hope for which so many families like ours had prayed. An additional investigational add-on treatment has received fast track status and orphan drug and rare pediatric disease designations by the U.S. Food and Drug Administration.
Not every treatment suits everyone with SMA, but there is still much to be celebrated. These innovative therapies have altered the course of SMA as our family knew it so long ago. Thanks to newborn screening and early intervention, babies and toddlers with SMA can sit, stand, run, jump, and dance with glee, blending in seamlessly with unaffected peers. That will never be anything but mind-boggling for those of us who experienced the flip side of the story.
Death of adults with SMA
Learning of so many infant deaths while we were battling for Jeffrey’s life never got easier. I don’t keep up with fellow SMA families nearly as closely as I did back then, but early deaths should be less prevalent now with treatment. The losses still hurt, though, even — or maybe especially — when they’re adults who at least momentarily outwitted the disease with steadfast determination while in pursuit of their dreams.
One of the toughest recent losses in the SMA family came last year when Margaret Jo “MJ” Purk apparently determined she’d accomplished enough here (she accomplished plenty) and slipped away quietly. She was no doubt greeted by all those whose families she’d so generously supported over the years with myriad SMA projects. Her indelible impact on those in and far beyond the SMA community, including the medical folks frequently baffled by her predicaments, continues to defy description.
Last month, the SMA community lost two accomplished adults. Mere weeks before her 60th birthday, Sandy Spoonemore of Texas joined MJ. Like MJ, Sandy refused to let SMA squelch her aspirations. According to her obituary, she was a devout Christian who enjoyed a successful career in corporate America, traveled the world, served and consulted on several task forces, and earned numerous prestigious awards at Mary Kay. In addition, in 2016, she was crowned Ms. Wheelchair Texas. What a role model she was for all of us.
Three days later, the SMA and Bionews communities bid a sad and unexpected farewell to DeAnn Runge. In a heartfelt tribute to their special friend, fellow Bionews staffers Kevin Schaefer and Michael Morale stressed the joy, humor, grace, grit, and energy DeAnn consistently exemplified. In a bit of irony, DeAnn’s “Dose of DeAnn” podcast on Jan. 12 began by saying, “Can you believe we’re into 2025? For me, it’s really hard to believe. With a condition like SMA, to be honest, I didn’t know if I would ever see 2025. So, now that it’s here, I plan on making the best of it.”
DeAnn was gone nine days later. She was 45 years old.
SMA may be rare, but bright spots in the SMA family abound. Thanks to Jeffrey, I’m honored to be part of it.
Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.
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