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“Scientists Discover Rare Genetic Condition That Attacks Kids’ Immune Systems” by Kristina Sauerwein

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Joseph Anthony Vena IV
Joseph Anthony Vena IV

The Robert G. Fenley Writing Awards: General Staff Writing - Bronze

“Scientists Discover Rare Genetic Condition That Attacks Kids’ Immune Systems” by Kristina Sauerwein
Washington University School of Medicine in St. Louis

The story spotlights the discovery of a rare genetic disease that attacks children’s immune systems. It was first identified by Megan A. Cooper, MD, PhD, an associate professor of pediatrics at Washington University School of Medicine in St. Louis, working with other researchers. The narrative alternates between scientific explanations of the genetic mutation TLR8 and the experiences of patients and their families affected by the condition. Typically, the gene TLR8 that plays a fundamental role in activating the immune system to fight viruses. However, with this disorder, TLR8 is too active, causing inflammation and immune system malfunctions. For Joseph Anthony Vena IV, the disease caused high-fever infections, excess brain fluids, an enlarged spleen, and kidney and liver failures. He underwent bone marrow transplants, chemotherapy, and radiation and was on a ventilator before he died at age 4. The story also highlights Dr. Cooper’s dedication to the patients and their families, as well as the challenges she faces diagnosing and treating rare genetic diseases. The new discoveries have inspired an ongoing collaboration of scientists nationwide.

“Joseph Anthony Vena IV was tired of fighting a mysterious infection that battered his body. Tired of shots and hospitals. Tired of focusing on his illness instead of interesting things like Spider-Man. ‘For years, he kept going,’ said his mother, Ashley Bitler. ‘But after Joseph’s second bone marrow transplant and rounds of chemotherapy, his body couldn’t take it. He looked at us and said he was tired.’ Joseph died June 13, 2020, at age 4 in a hospital near his home in New Jersey… [His] infections confounded doctors up and down the Eastern Seaboard. Eventually, in 2019, a physician referred the parents to Megan A. Cooper, MD, PhD, an associate professor of pediatrics at Washington University School of Medicine in St. Louis.”

Kristina Sauerwein
Kristina Sauerwein

What was the most impactful part of your award-winning entry?
Highlighting the scientific discovery and devastation of the rare pediatric disease increased awareness. As a result, more children have been diagnosed with the condition. Additionally, research collaborations were formed between scientists across the country.

What was the biggest challenge in writing this topic?
Writing about rare diseases is always a challenging topic in terms of generating media and public interest. This is because the disease affects so few people. This is even more true during the pandemic, when COVID-19 is dominating the world’s interest.

Contact: Kristina Sauerwein

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