Sally Walker Burger didn’t expect history to repeat itself. When her son, Walker, was diagnosed with Barth syndrome at 19 after a lifetime of symptoms—cardiomyopathy, low muscle tone, failure to thrive—it felt like a medical mystery finally solved.

But months later, when her grandson Jackson was born with similar signs, the mystery turned into a pattern. Two boys. Two generations. One rare disease.

“Walker had lived his whole life with unexplained health problems,” Sally recalls. “It wasn’t until his cardiologist heard about Barth syndrome at a conference that the dots were connected.  Then Jackson was born shortly after - in heart failure. At that point, we knew exactly what we were facing.”

Barth syndrome is an ultra-rare mitochondrial disorder that zaps the body’s energy at the cellular level, causing chronic fatigue, muscle weakness, growth delays, and heart complications. For both Walker and Jackson, it has shaped nearly every aspect of their lives.

Walker, now 36,  one thing has changed his trajectory: elamipretide. The investigational therapy, which enhances mitochondrial energy production, gave him something Barth syndrome rarely allows—stability.

“He’s been on elamipretide for eight years,” Sally says. “It has transformed him into a strong, productive, happy, healthy young man. He’s finally able to participate in life.”

Jackson’s experience, however, is different. At 15, he struggles with energy, low muscle tone, and the emotional toll of watching his peers live lives he can’t access. “Jackson just wants to be like everyone else,” Sally says. “He wants to feel stronger. He wants to participate in life.”

And while Jackson received a heart transplant as an infant, it only solved part of the problem. “Barth is still there,” Sally explains. “It’s not just about the heart—it’s about energy, mobility, and the ability to live fully.”

Now, both of them are watching anxiously as the FDA delays its decision on whether to approve elamipretide. Despite a 10–6 advisory committee vote last fall supporting the drug’s effectiveness, the agency has yet to move forward.

For Sally, the implications are devastating.

“Walker is terrified he’ll lose access. I don’t know what would happen to him without it, I do not want to know “  she says. “And Jackson—he hasn’t even had the chance yet. It’s inhumane to withhold treatment that is safe, effective, and life-changing.”

As a mother and grandmother, Sally has spent years navigating the health system, advocating through the Barth Syndrome Foundation, and pushing for a fair review of the science. She knows how much is at stake.

“These boys look normal,” she says. “But Barth syndrome is debilitating. It zaps their energy and strength. They want to participate in life—but their bodies don’t let them.”  There are other Barth boys who experience much greater, more debilitating affects.

She’s wittnessed first hand the transformation that is possible. She’s also experienced  the desperation that comes with watching the possibly slip away.

“We’re not asking for a miracle,” Sally says. “We have found one. Now we’re asking for the FDA to let others access it.”

Her dream is simple and profound: “I want Walker and Jackson to be healthy, happy, and productive. I want them to have the chance to live the lives they were meant to live.”

Call to Action

The Barth Syndrome Foundation is calling on the FDA to:

• Finalize the review of elamipretide without further delay

• Approve the therapy for all ages and stages of Barth syndrome

To show your support, visit www.barthsyndrome.org or read the foundation’s statement: Barth Syndrome Foundation Calls for Urgent FDA Action