When Debra Chiabai helped her good-Samaritan dad volunteer for his charity of choice—Muscular Dystrophy Canada—they both thought of it as a simple, nice thing to do.
Many years later, that connection to the organization became much more personal.
Not long after her father’s death, Debra’s toddler son, Alex, started having trouble walking. Lots of falling. Problematic movements.
By the age of 3, he was diagnosed with Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) is a genetic disorder: one of the nine types of muscular dystrophy and the most common. Characterized by degenerative muscle weakness, people with DMD lack a protein called dystrophin, which normally resides within the body’s muscle fibres and controls muscle functionality.
Many of those affected by DMD will not survive into adulthood.
It’s a heavy concern for Alex. Now 15 years old and surrounded by strong family support, Alex has started high school and continues the family legacy by volunteering with his mother and sister at the Muscular Dystrophy Association of Canada.
But his condition has taken its toll.
About a year and a half ago, DMD took Alex’s ability to walk.
He relies on a stand-up wheelchair for home and school, and his only hope at keeping his decline at bay has been a mix of physical therapy and steroids.
At least, that used to be his only hope.
Ottawa researchers radically altered their understanding of DMD when they discovered that muscle fibers were not the only ones at fault for the degenerating muscle weakness.
The real perpetrator is the stem cell function.
That’s right: researchers believed for the past 20-odd years that dystrophin existed within muscle fibers. As it turns out, the protein also should live in the stem cells. When the protein’s not home, stem cells don’t produce precursor cells and that ultimately means three things:
- Fewer functioning muscle fibers
- Stem cells not dividing to make more of themselves
- A failure to properly repair muscles
So to summarize: DMD is, in fact, a stem cell disease—and this light bulb realization illuminated new rooms of thought and unexpected hallways that could one day lead to better and more effective treatment options.
Already, researchers are targeting a muscle-repairing protein that may help restore cell function. They’re also looking at treatments already on market to be re-purposed for DMD.
It’s a breakthrough moment for this condition. Though the final products are long in coming, Alex, his family, and those like him now have a new hope. That in itself can be one powerful treatment.
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