My Nonprofit Reviews

My first son died when he was two weeks old. I had no idea he was sick. My world was turned upside down. At that time, I didn’t know about Barth syndrome.

Our journey began in 2002. When Nathaniel Joseph was born on September 9th, he seemed to be the picture of health. That is, until he died unexpectedly two weeks later. The cause of death was eventually determined to be dilated cardiomyopathy. We were told it was a fluke, a one in a billion thing. Nothing could have been done, and it would never happen again.

When I discovered I was pregnant again, just over a year later, I panicked. Numerous tests were performed throughout the pregnancy, and I was assured my baby had a healthy heart. However, when Devin James was born on July 22, 2004, he couldn’t breathe. He was rushed to the neonatal intensive care unit, where an X-ray revealed a severely enlarged heart. He was intubated and airlifted to University of Michigan's C.S. Mott Children's Hospital within six hours of his birth. I was terrified. I just couldn’t bear the thought of losing another child.

Devin spent the nine agonizingly long weeks in the pediatric intensive care unit, where he suffered complete heart failure and a full cardiac arrest. Eventually, my sweet baby underwent successful heart transplant surgery.

Barth syndrome had been suspected early on, but genetic testing performed prior to transplant revealed a mutation that had never been seen. Although Devin’s symptoms and family history indicated Barth syndrome, it was not considered enough for a diagnosis.

In 2006, I saw an episode of Discovery Health Channel’s “Mystery Diagnosis” that featured Barth syndrome. I immediately got in contact with Shelley Bowen, a driving force behind the Barth Syndrome Foundation. She urged me to look further into genetic testing.

After six months of additional testing, Devin was finally diagnosed with Barth syndrome at the age of 27 months, more than two years after receiving the “gift of life,” and four years after the death of his brother, Nathaniel.

This diagnosis is so important in many aspects of Devin's care, including nutrition, metabolism, growth, cardiac care, physical therapies, education, and more. Infection is constant worry. We once spent four days in hospital for a scraped elbow! Devin takes countless medicines and supplements. We know the emergency room all too well. Life can be hard as 13-year-old boy that is the size of most seven-year-olds. Add the suffering from muscle weakness, extreme fatigue, and lots of missed school – it just breaks my heart some times. As his mother, I worry constantly.

One light in this darkness is the Barth Syndrome Foundation (BSF). Thanks to BSF, we are not on this journey alone. Expertise is always an email or phone call away. Attending BSF’s conference enables us to learn so much about this incredibly rare condition, while spending time with families from around the world that are just like Devin. He is also seen at the Barth Syndrome Clinic at Kennedy Kreiger Institute, the only clinic in the US that specializes in Barth syndrome.

Thanks to BSF and the “gift of life,” I am the proud mother of a relatively healthy and happy 13-year-old boy. I am so grateful for the Barth Syndrome Foundation for helping Devin and all of his “Barth brothers” around the world.

There is not a doubt in my mind that my son is doing so well today because of the work of the Barth Syndrome Foundation (BSF). Having 2 children born with Barth syndrome, I know all too well the effects of this devastating disorder. After losing my first son at 2 weeks of age to an undetected heart condition, I was told it was likely a fluke and to try for another baby. Imagine the surprise and absolute horror I felt when my second son was born with the same heart problem. Thankfully it was detected, and my second son underwent successful heart transplantation at 9 weeks of age. The awareness raised by BSF led his doctors to believe BTHS may be the cause of his heart failure, so they sought the input of a BSF affiliated cardiologist before listing him for a transplant. It was on the advice of that cardiologist that Devin was listed for, and eventually received, the donor heart. Although his cardiac health improved post transplant, BTHS is a multi-faceted disorder, and the work of BSF has allowed us to manage all of the other facets. Finally, the support and camaraderie offered by a group of people affected by such a rare and devastating disorder is made possible by BSF.

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