When Kristi Pena’s son Christopher was born with cardiomyopathy, doctors told her to prepare for the worst. Christopher was under hospice from three weeks old thru 15 months. It was at 22 months he was diagnosed with Barth syndrome. The prognosis for boys with Barth syndrome is grim: more than 85% don’t live to see their fifth birthday.
Christopher, now 17, has defied that prediction. But it hasn’t been easy.
He has endured heart failure three times, seizures, a stroke at age 4, and unrelenting fatigue. He requires 23 doses of medication a day, receives two injections a week, and is monitored by ten different specialists. For much of his life, Christopher has lived not in anticipation of the future, but in fear of the next medical crisis.
“The older he gets, the harder it becomes,” Kristi says. “His body keeps fighting, but it’s tired. And now, so is he.”
Barth syndrome—a rare, inherited mitochondrial disease—affects fewer than 200 people in the U.S. It disrupts the body’s ability to generate energy, leading to muscle weakness, immune deficiency, and often, heart failure. Christopher’s form has been especially severe. Even a trip to the grocery store requires multiple rest breaks. He cannot attend school in person. He’s felt the sting of isolation, frustration, and, in moments of profound pain, hopelessness.
“There was a time recently when he asked me to let him die,” Kristi shares quietly. “That’s how much he was hurting. That’s how tired he was.”
But five months ago, something changed.
After exhausting every option, Kristi secured emergency access to elamipretide, an investigational therapy designed to support mitochondrial function. The results were almost immediate.
“For the first time ever, he could jump,” she says. “Stairs—his lifelong nemesis—became possible. He had stamina for schoolwork. He helped with chores. We saw joy again. He could keep up with his peers for the first time—roughhousing, laughing, even dominating a two-on-one gel blaster session the other day. It’s incredible to watch unfold.”
That fragile progress is now under threat. Despite a positive advisory committee vote last fall, the FDA has delayed its decision on whether to approve elamipretide. For families like the Penas, the uncertainty is devastating.
“It’s a miracle drug, and the FDA agrees it’s safe and effective,” Kristi says. “But they’re hesitating because there aren’t enough of us. Because Barth is rare.”
Rare, Kristi argues, should not mean disposable.
“This disease doesn’t just impact the child. It devastates entire families—financially, emotionally, generationally,” she says. “My grandmother buried both of her sons. I have a nephew and a cousin with Barth. This is our family history. And finally, there is something that can change it.”
Kristi’s advocacy isn’t new. Her family has been featured in national media. She’s helped secure legislation for pulse oximetry screening in newborns. She’s campaigned for children’s hospitals and participated in every research opportunity that’s come their way.
But this moment feels different. Urgent. Unacceptable.
“If we lose this drug, or if others never get the chance to try it—how do I explain that to Christopher?” she asks. “How do I tell him that the effort was made, the results were there, and he still wasn’t seen?”
Kristi dreams of watching her son attend school in person for the first time. Of seeing him play sports. Of giving him a life not defined by his diagnosis but by his potential.
“He has so much to offer this world if only his body will give him the chance,” she says. “And now, with this drug, he finally has that chance. We just need the FDA to do what’s right.”
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
View BSF's full statement: Barth Syndrome Foundation Calls for Urgent FDA Action
