Woman organizes benefit for victims of rare dystrophy
It’s personal for her: Husband and son have the disease.
Number one on the bucket list for Susan Aumiller and her husband, Bob, is to visit all five dozen U.S. national parks.
With about half under their belt, the couple’s world was turned upside down last summer when, shortly after retirement, Bob was diagnosed with an incurable form of muscular dystrophy that has made it more and more difficult for him to walk.
The diagnosis came six weeks after the Powell couple had learned that their son, Bill, had the same disease.
Susan Aumiller was devastated.
“It was like a tornado,” she said. “We’ve all been just spinning for a year, because we were so healthy and so active. Just looking at the future, it’s so different than the future I anticipated.”
In the midst of her spinning, Susan set out to learn everything she could about the disease, facioscapulohumeral muscular dystrophy, referred to as FSH or FSHD.
Susan discovered that FSHD is caused by a genetic mutation that can be passed to children and is typically marked by atrophy of muscles in the face, back, upper arms and shoulders and sometimes the core, hips and lower legs.
She just had to do something, and has since organized the first Columbus-area Walk & Roll to Cure FSHD. The event Sept. 13 was designed to increase awareness and raise funds for the Massachusetts-based FSH Society, which has the goal of finding a cure by 2025.
The walk comes after the FSH Society launched an initiative this spring to create “an army of activists” in the form of chapters around the country, said Beth Johnston, who heads up community development for the society. Aumiller leads the Columbus chapter, the second of 13 to officially set up shop nationwide.
Johnston said the Columbus Walk & Roll is among the first in the nation and she and Mark Stone, the society’s chief executive officer, attended.
Stone has a goal of raising $10 million over the next three years to fund research at the clinical-trial level and accelerate the time it takes to get treatments into the hands of patients.
In Columbus, Scott Harper is one of the researchers working to develop a cure at the Center for Gene Therapy at the Research Institute at Nationwide Children’s Hospital.
After testing it successfully in mice, his team seeks to further explore a therapy that aims to knock down a muscle-destroying gene activated in people with FSHD. The therapy involves injecting mice with a virus loaded with a microRNA sequence that binds to the nasty gene and directs the body’s cells to chew it up.
While Harper is confident that the therapy will translate to humans, it will take more research to determine whether he’s right.
“This is awesome,” Harper said of the fundraiser. “If we get awareness and we have people like Sue out there lighting fires, it helps get people interested in wanting to help us get over the hump.”
According to the society, it is traditionally thought that FSHD affects about 1 in 20,000 people worldwide, with more recent research indicating that it might be found in as many as 1 in 8,333, or roughly 870,000 people.
While most people with FSHD begin noticing symptoms in the second or third decade of life, onset can come in infancy or childhood.
The Aumillers said doctors had misdiagnosed their FSHD for years.
While 36-year-old Bill, who lives in Colorado, has yet to develop severe problems (and recently climbed a 14,000-foot mountain), his 63-year-old father has degenerated quickly, experiencing difficulty walking and regular pain.
The Aumillers’ other son, who’s 37, doesn’t have the FSHD gene.
With no treatment available, Bill Aumiller doesn’t plan to have his two daughters, an infant and 2-year-old, genetically tested but hopes a cure or therapy will be found before the girls potentially face any struggles.
“There’s a 1-in-2 chance that my children could have it. I’m scared to death,” he said. “We’re just praying that they’re going to be OK for now.”
As for his mom, she finds it bewildering that the family had always taken responsibility for their health and now find themselves facing something they cannot control, no matter what they eat or how many push-ups they do.
Instead, she plans to do anything in her power to support a cure.
“At the end of the day,” she said, “I just want to know I did everything humanly possible to save my family.”