Meet the Marshalls 

by Chelsea Moeller

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Amanda was diagnosed while pregnant with her third of five children. A swollen leg with no obvious origin led to a neuromuscular specialist, who noticed the slightest droop in her face and connected cause to her winging scapula, long attributed to an injury during her high school tennis career. A blood test followed, along with a genetic confirmation: facioscapulohumeral muscular dystrophy (FSHD), a rare, genetic, progressive muscle-wasting disease with no known treatment. 

Without symptoms impacting her day-to-day, life moved on, and so did she—until her youngest son, Benji, started showing signs in toddlerhood. Low muscle tone. The early curve of a swayed back. He was thin despite being a good eater. His kneecaps were unusually prominent, his walk slowly shifting in ways that were hard to ignore. By the time he was seven, there was no question and there weren’t many answers either. 

“By seven, it was very obvious,” Amanda recalls. “We used a stroller for him during long outings because he was losing strength.” 

A broken leg in middle school—the result of a trampoline double-bounce gone awry—likely accelerated what was already underway. By his eighth-grade year, Benji was a full-time wheelchair user. Getting him to appointments and outings meant Amanda lifting his wheelchair in and out of her Honda Pilot, over and over, as her own strength quietly diminished. Eventually, a mobility van became a necessity—one more adaptation in a life that increasingly relies on them. 

 

Now 16, Benji navigates the halls and the emotional highs and lows of his teenage years differently than his peers. He rides around with his now-driving friends, occasionally laments his own lack of a license and the freedom that comes with it; participates in adaptive sports; and has participated annually in a summer muscular dystrophy camp. He has his mother’s undaunted and practical optimism, and his own peppy and contagious vivaciousness. 

Three of Amanda’s five children now show signs of FSHD, though they’ve not all been tested. The process feels like an admission—a costly one, literally, mentally and emotionally.  

The level of progression among them varies. As does the level of acceptance. In addition to Benji, one son is choosing action, pursuing connection with a neuromuscular specialist and participation in a natural history study. Another turns away from the reality of what the diagnosis might mean for their future. Amanda understands both impulses. “If we don’t talk about this,” she says, “it’s like we can pretend it’s not there.” 

As her children age and their symptoms progress, Amanda sits with the particular heartbreak of a parent who cannot protect her children from something written into their very DNA. 

Her own symptoms have mounted steadily. Stairs are a hardship. She can no longer raise her arms above her head. She lives with pain down the right side of her body. Chasing the children in her preschool program—he work she has given her life to—gets harder every year. This is the only career she’s ever known, and it’s becoming one she may not be able to sustain. She’s facing necessary retirement and reinvention due to the mounting constraints of the condition. 

And beneath it all runs a persistent, practical worry: affordability. Will she be able to afford the increasing costs of care and medication if and when one becomes available? “I’m a single mom running a daycare,” she says. “Forget about me. Will I be able to pay for a treatment for my son?” 

 

Still, Amanda and Benji have chosen not to burn daylight waiting on the “what ifs.” The family takes summer vacations, rides rollercoasters, makes memories. “It’s all done differently,” Amanda says, “but for the most part, we can do what we want. It takes more time, more thought, but, so far, almost everything can be overcome.” 

For herself, Amanda’s hope for a treatment is modest in its simplicity: “If I could just stop it where it’s at now, that would make me happy.” Her dream for Benji is bigger: to turn back the hands of time, to restore what has been slowly taken from a teenager with so much living still ahead of him and a heart that seems incapable of hardening. 

With more than 25 companies actively working in the FSHD therapeutic development space, one clinical trial in phase three and multiple others following close behind, Amanda and Benji both feel hopeful.  

They go about their days holding space for what will be while and embracing what is. Benji plays video games, eats pizza and caprese salad with friends. Amanda tucks in exhausting, fulfilling days with a guilty-pleasure Netflix show. And they both rise again the next day to do it all over again—just like the researcher who will, too, getting us all little bit closer to the breakthrough this family, and so many others, have been waiting for.