Violet Pimental’s family meets with lawmakers on Capitol Hill after FDA denial threatens treatment helping their young daughter survive
From their home in Folsom’s Parkway neighborhood to the halls of Congress in Washington, D.C., Frances Pimentel and her husband have taken on a fight no parent ever expects — advocating for the life-saving treatment helping their young daughter survive a devastating rare disease.
The couple’s daughter, Violet, is a cheerful preschooler who attends the medically complex preschool program at Empire Oaks Elementary School. At home, she plays with her older brother Kai, a student at Oak Chan Elementary, and works hard every day to take steps with her walker and speak the growing list of words her parents once feared they might never hear.
But Violet’s life story began with uncertainty and a diagnosis that changed everything.
“Violet was diagnosed at 8 months old after a long diagnostic odyssey,” said her mother, Frances Pimentel. “She finally received genetic testing at UCSF that confirmed her diagnosis.”
Doctors determined that Violet has a rare pediatric neurodegenerative mitochondrial disease, a severe genetic disorder that affects the body’s ability to produce energy at the cellular level. The disease can progressively damage organs and muscles, often leading to life-threatening complications during childhood.
When the diagnosis came, the outlook was grim.
“We were not given much hope at the outset,” Pimentel said. “Ten to twenty percent of children with her condition pass away in childhood. It’s a very severe and debilitating disease and we were told she will most likely never walk or talk.”
For the Pimentels, the news launched a difficult journey navigating specialists, treatments and the unknown future of their daughter’s condition. Amid the uncertainty, however, doctors offered a single possibility that could change Violet’s path — enrollment in a groundbreaking clinical trial.
The trial, based at Stanford University, was testing what could become the first treatment for Violet’s disease, and Violet became the final patient accepted into the program.
Three years later, the impact on her life has been profound.
“She has now been on the drug for three years and can walk with a walker and we’ve lost count of how many words she can say,” Pimentel said.
Her mother says the medication has stabilized Violet in ways that were once unimaginable.
“She has been stable. The drug has kept her lactic acid at normal healthy levels for three years and she’s been able to stay out of the hospital, attend school and travel with us,” Pimentel said.
For children with mitochondrial disease, lactic acid levels are a critical biomarker tied to the body’s energy production. Stabilizing those levels can mean the difference between constant medical crises and a more stable life.
According to Pimentel, the trial’s physician leader has also seen promising results.
“Dr. Rebecca Ganetzky, the lead physician of the trial, has not lost a single patient in six years that has been on the drug,” she said.
For the Pimentels, the treatment has meant more than medical stability. It has meant watching their daughter grow, learn and participate in childhood experiences many families take for granted.
But last August, the family received news that threatened to undo that progress. Despite the survival data and biomarker improvements seen during the trial, the U.S. Food and Drug Administration denied approval of the drug. The decision stunned families participating in the program and sparked a wave of advocacy from parents determined to keep the treatment available.
“The FDA has refused to engage with the patient community,” Pimentel said.
In response, families launched a petition urging federal regulators to reconsider the decision, and within three weeks the petition gathered more than 17,000 signatures.
For the Pimentels, advocacy quickly became part of daily life. What began as phone calls and letters soon expanded into a national effort to raise awareness about how treatments for ultra-rare pediatric diseases are evaluated, an effort that ultimately led them to Washington, D.C.
Last week, during Rare Disease Week on Capitol Hill, Frances Pimentel and her husband traveled across the country to share Violet’s story directly with federal lawmakers. During their visit they met with more than 20 congressional offices to explain the potential consequences of the FDA’s decision and the challenges families face when treatments for ultra-rare diseases stall in the regulatory process.
Pimentel also addressed policymakers during a congressional briefing.
“I gave a speech at a briefing in the House,” she said.
Violet’s story also reached the Senate floor when Sen. Rick Scott, chairman of the Senate Committee on Aging, highlighted her during a hearing and displayed her photograph as part of the discussion surrounding rare pediatric diseases.
For the Pimentels, the response they received from lawmakers was both emotional and encouraging.
“What we found was bipartisan support and outrage at the situation of the FDA,” Pimentel said.
Advocates say the issue extends far beyond a single drug. According to data shared during meetings on Capitol Hill, nearly 78 percent of pediatric neurodegenerative disease treatments with no existing therapies have received Complete Response Letters — regulatory delays or denials — from the FDA over the past year.
According to Pimental, many argue that Congress has already provided regulatory tools designed specifically for ultra-rare diseases, allowing the agency to rely on survival data and biomarkers when traditional large-scale clinical trials are impossible due to the small number of patients. Yet advocates say those tools are not always being used consistently.
The debate gained additional attention earlier this week when U.S. Health and Human Services Secretary Robert F. Kennedy Jr. announced a new “Plausible Mechanism Pathway” intended to help accelerate approvals for ultra-rare diseases based on survival data and biological markers.
For families like the Pimentels, however, the urgency is deeply personal.
Back in Folsom, Violet continues her daily routine — attending preschool, practicing walking with her walker and filling the family’s home with words and laughter that once seemed uncertain. Her progress is what fuels her parents’ determination.
Their trip to Washington was not just about policy or politics. It was about ensuring that Violet and other children battling similar diseases have a chance to keep growing, learning and living.
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