Rare diseases need treatment, too 

Barth syndrome is a diagnosis from which it is often impossible to recover.  

Heart failure can claim lives in an instant as cardiomyopathy progresses undetected, like it did for my baby, Declan. At 11 months old, he unexpectedly went into acute heart failure and was hospitalized. He was put on machines with unfamiliar acronyms, like ECMO and VAD, to keep him alive. I, along with Declan’s father and my partner, were told his only hope would be a heart transplant.  

What we experienced as a family was nothing short of a living nightmare, but the reality is that the past year could have been much worse for us. Declan is still here today because of a series of miracles.  

Our first miracle was that his treating physician was Dr. Amy Goldstein, director of the Mitochondrial Medicine Program at the Children’s Hospital of Philadelphia. Not only had she heard of Barth syndrome — not a foregone conclusion for a disease that affects fewer than 150 people in the U.S. — she was also familiar with elamipretide, an investigational medicine that had shown improvements in heart function, exercise tolerance, and muscle function, with few side effects, for patients with Barth syndrome. 

Our second miracle was how quickly Declan was able to begin treatment with elamipretide. Dr. Goldstein petitioned the FDA for access under the compassionate use program, which allows people with a serious or life-threatening disease to try unapproved medicines if the potential benefit justifies the potential risks. They approved the request within 24 hours. 

Our third miracle is the life-changing and potentially life-saving improvements Declan has experienced while taking elamipretide. His heart structure and function improved beyond what his doctors believed possible. We were told that there has never been a Barth syndrome patient on a ventricular assist device (VAD) who has recovered without a heart transplant. But my son’s VAD was removed six months after he began treatment, and he left the hospital with his native heart beating in his chest and pumping blood throughout his body. He is now two years old and is able to run around so much that I can’t keep up with him. 

Our son is living an exceptional Barth syndrome story.  

But his story should not be the exception; every child with Barth syndrome should have access to this medicine. Too many people with this devastating disease lose their lives too soon. For those fortunate enough to make it through the early heart-failure chapter, Barth syndrome remains a progressive disease that comes with a poor quality of life and no approved treatments.  

Most Barth syndrome patients cannot be treated with elamipretide because the FDA has declined to even look at the data to consider it for approval. Because Barth syndrome is so rare, there are not enough patients to support the clinical trials the FDA is requesting. For years, the Barth syndrome community has advocated for a fair, equitable and appropriate review of this investigational medicine — most recently through a petition signed by nearly 20,000 people, which was hand-delivered to the FDA in December 2023. 

If the FDA does not consider this medicine, most of those living with Barth syndrome will never have a chance for a full and thriving life. The clinical trial participants who are currently receiving the medicine will lose access to it, and the improvements they have experienced will likely deteriorate. 

The compassionate use program will end, and my son will no longer receive the treatment that may have saved his life and is enabling him to live a healthier and happier life than I could have imagined a year ago. 

We need the FDA to act now, or our community will face unimaginable consequences. 

Jamie Dubuque, the mother of a toddler with Barth syndrome, is a leader in the grassroots advocacy campaign Not Too Rare to Care.