Sacramento-area families rally for research on rare muscle disease
Twelve-year-old Drew Pontarolo doesn’t remember getting diagnosed with the muscular degenerative disease FSHD. It’s always been just a part of his life growing up in Rocklin, alongside sports and family.
However, he’s become more aware of its impact recently: “I love to play baseball, and it’s kind of gotten harder to play when you get to the bigger field,” he said Sunday.
FSHD, which stands for Facioscapulohumeral Muscular Dystrophy, is a genetic disorder that causes muscles to weaken over time. The disease affects an estimated 870,000 people worldwide, and in Sacramento on Sunday, about 50 people gathered to participate in the local FSHD Society chapter’s second annual Walk and Roll event.
Almost two dozen of those people came out to represent “Team Drew,” including his mother, Donna Pontarolo, who remembers her son’s diagnosis well. In his first years, Drew was late to start walking, and when he did “he was tripping all the time.”
“I just had that mom sense, like, ‘something’s not right,’” she said. Genetic tests revealed the cause, early-onset FSHD, which only affects 5-10% of those with the disease.
“At that time they said, since it’s such early onset, he would be in a wheelchair, probably (by) lower elementary (age).”
However, Drew has been able to live a full, active childhood – playing football, baseball and golf. Although he said the past season was his last as a player on the baseball diamond, he’s been invited to coach on some of his former teams.
“Coaching has come naturally,” he said with a smile.
Staying active, holding on to hope
The active life Drew is leading is Paul Miller’s wish for all young people with FSHD.
Miller, 68, is the director of the Sacramento chapter of the FSHD Society, and president of the Sacramento Audubon Society. He was diagnosed with the disease at 16.
“For the younger people here that have (FSHD), don’t stop. I didn’t stop,” Miller said during an address to attendees. “I did all the things that I wanted to do. I still remember the 20-foot wave I dropped into. I still remember the diamond ski hill I went down.”
Miller now uses a motorized wheelchair and a mobility van to help him lead birding trips, and encouraged all attendees with the disease to do what they need to do to live the life they love.
His words resonated with Vacaville resident Brittany Lauro, 29, who organized Sunday’s walk.
Lauro was once a ballerina, cheerleader and horseback rider, but had to stop as her muscles continued to weaken. Now, she said, she deals with persistent fatigue, but finds ways to enjoy her free time.
“I’ve created new passions. I love photography. I love going out in nature and taking pictures,” she said.
The public affairs professional is also keeping track of developments in treatments for the disease. Early data about the efficacy of a medicine that targets the underlying cause of FSHD has been promising, and further research is underway.
“I think the future is bright,” she said.
This story was originally published September 7, 2025 at 2:14 PM.
