In 2023, the Washington Post featured the hospital’s work solving genetic mysteries. The article detailed the experiences of Logan, a boy whose story demonstrates the power of genetic and genomic medicine.
When Logan was 9, he nearly died from a cardiac arrest on Christmas day. Before that, he had struggled with behavioral problems, including difficulty learning and disruption in school.
Everything changed, however, when Logan transferred to Children’s National for intensive care following his health crisis. Seth Berger, MD, PhD, a medical geneticist, looked into Logan’s case.
Dr. Berger uses sophisticated biochemical, genomic and artificial intelligence tools — including RNA sequencing — to solve medical puzzles. Luckily for Logan, Dr. Berger found a needle in the haystack of the boy’s molecular code — a harmful mutation in the gene SLC6A8, which is essential to the body’s ability to store and use energy via creatine at the cellular level. Logan’s rare metabolic condition is one of only 300 known cases in medical history.
Thankfully, a treatment existed Logan began to take a mixture of creatine, arginine and glycine. His health stabilized and he could finally enjoy school activities. “The result was night and day,” said Melissa, Logan’s mom. “He went back to school, and they asked ‘who is this kid?’ Since he was so well behaved and able to learn in a classroom for the first time.” Over the summer, Logan attended Camp Accomplish, a Children’s National-affiliated summer camp. He enjoyed playing basketball so much that he won the Lebron James Award.
Logan’s medical journey also will help to save the lives of people around the world who share his rare condition. Dr. Berger published findings related to his case, which helped establish a connection between creatine deficiency and cardiac arrest. The study also demonstrates the power of RNA analysis to uncover treatment possibilities.
Melissa also credits cardiologist Elizabeth Sherwin, MD, for Logan’s excellent care. She expresses deep gratitude that the Center for Genetic Medicine Research was there for him. “I am so grateful to have Dr. Berger and Dr. Sherwin in our life,” she says. “I am a believer in the future of genetic medicine. We are beyond lucky.”