By the time Jacob Wilson was diagnosed with Barth syndrome at age 10, he had already endured years of unexplained infections, seizures, hospital stays, and pain. His early childhood was a patchwork of medical mysteries—frequent fevers, muscle weakness, developmental delays—each piece failing to form a coherent diagnosis. But when his cousin Christopher was born with a heart condition and later diagnosed with Barth syndrome, a rare and life-threatening mitochondrial disorder affecting fewer than 200 known individuals in the U.S., Jacob’s mother, Amy, finally found the missing piece.
“He had so many little things going on—growth issues, arthritis, infections, fatigue—but no one could explain why,” said Amy Wilson. “It wasn’t until we learned Christopher had Barth that we finally had doctors go back and take a closer look.”
The Wilsons live in Braxton, Mississippi—a quiet town far from the academic centers that conduct rare disease research. There, the diagnosis was a double-edged sword: relief at finally having an answer, and despair at the realization that no FDA-approved treatment existed.
Now 24, Jacob is still fighting—not just the symptoms of Barth, but the weight of a bureaucratic system that, his family believes, is dragging its feet on the one therapy that has helped him.
Jacob was among the first patients to participate in the clinical trial for elamipretide, an investigational drug developed by Stealth BioTherapeutics. The therapy, which targets mitochondria to improve energy production and reduce fatigue, is being reviewed by the U.S. Food and Drug Administration (FDA) for potential approval.
Jacob says the difference while on the drug was like “night and day.”
“My life was exponentially better,” he said. “Even though I had to stop because of a skin reaction, I’ve never stopped wanting to get back on it. I know it works. I’ve lived it.”
But late last month, the FDA delayed its decision on the drug yet again, despite a 10-6 vote last fall by an independent advisory committee supporting its efficacy in Barth patients. For families like the Wilsons, the delay isn’t just frustrating—it’s devastating.
Amy says she has tried to remain strong for Jacob, but the weight is becoming unbearable.
“My child—and quite frankly, myself—are ready to give up,” she said. “I’ve never said this before, but this has been a very long fight. The people at the FDA might feel differently if this was their child.”
Their story is echoed in a new public call to action from the Barth Syndrome Foundation, which is urging the FDA to complete its review as soon as possible, set a definitive
decision date, and approve elamipretide for the full population of patients with Barth syndrome.
“Without this medication,” Amy said, “we are losing our children.”
Jacob’s life today is far from typical, but it’s one he fights to hold onto. He takes six to eight medications daily, including three abdominal injections of Neupogen a week to boost his immune system. His energy is limited. He’s experienced severe neutropenia, hypoglycemia, and social isolation. Yet his dreams are achingly familiar.
“I just want to live as normally as possible,” Jacob said. “I want to have kids. I want to have a life.”
Amy says she’s tired of being told to be patient. “We don’t need more empathy. We need action. We’ve done the studies. We’ve traveled. We’ve advocated. The science is there. The need is clear.”
For Jacob, the urgency is simple. “I know doctors have all these degrees,” he said, “but I know my disease. I know what works. And I know I deserve a chance.”
Call to Action
The Barth Syndrome Foundation calls on the FDA to:
Complete the review of elamipretide immediately
Set a clear decision date
Approve the drug for all eligible individuals with Barth syndrome
To help families like Jacob’s, read BSF’s statement here: Barth Syndrome Foundation Calls for Urgent FDA Action
