Barth syndrome is another rare disease that affects children


Uplifting Athletes supports the larger rare disease community in addition to the rare diseases our 25 student-athletes led chapters champion. We welcome any rare disease organization to share their story with our audience. Barth syndrome is an inherited rare disease that affects young boys. This rare disease causes an enlarged and weakened heart, growth delays and a vulnerable immune system. The Barth Syndrome Foundation raises awareness and research dollars all to help find a cure for this rare disease.

DEVINDevin just celebrated his 10th birthday. He appears small for his age, but otherwise looks healthy. When Devin wears his superhero cape, he seems capable of anything.

Despite his outward appearance, Devin is a seriously sick young man.

It’s impossible to imagine what this smiling boy, who loves animals, Legos, music and dancing, fishing and Harry Potter, went through in the first 2 months of his life, and what he still faces every day.

Devin has Barth syndrome, a rare inherited disease which causes an enlarged and weakened heart, growth delays and a vulnerable immune system.

Like all boys affected by Barth syndrome, Devin still faces many challenges, including his extremely small stature, frequent infections, increased fatigue, educational delays, annual heart catheterizations, and the possibility of needing another heart transplant in the future.

After losing her first son at 2 weeks, when Nicole discovered she was pregnant again with Devin she saw a Fetal Medicine Specialist who confirmed Devin’s heart was healthy through the pregnancy.

So it was a shock when he was born on July 22, 2004, in respiratory distress.

He was intubated and airlifted to University of Michigan’s C.S. Mott Children’s Hospital within 6 hours of his birth. Devin’s heart function worsened and it became clear that a heart transplant would be the only option.

Devin then went into full cardiac arrest at 3 weeks of age. The next few weeks were a rollercoaster that no parent should have to ride, with Devin on full life-support. Finally, at only 2 months of age, Devin received the Gift of Life: a perfect donor heart. Nicole still didn’t know what had caused all these terrible problems for her son.

Two years after Devin was born, Nicole watched an episode of “Mystery Diagnosis” that discussed Barth syndrome. She almost immediately contacted Shelley Bowen at the Barth Syndrome Foundation who urged her to revisit Devin’s earlier genetic testing.

She discovered Devin did have the mutation of his G4.5/TAZ gene which causes Barth syndrome, the leading cause for infantile dilated cardiomyopathy in boys. Devin was finally diagnosed with the syndrome 2 years after receiving his Gift of Life heart.

In the United States, only 173 boys have been diagnosed with Barth syndrome.

The Barth Syndrome Foundation raises money for a research grant program, which seeks to improve treatments and to find a cure for this rare disease. It also works to increase awareness, which improves the rate of diagnosis for boys like Devin, as well as provide help, medical advice, and education to the families of affected boys.

 

 

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