Doctors Treat Girl’s Genetic Disorder with Repurposed Drug

In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.

Written byAmanda Heidt

| 7 min read

Marley, pictured here with her father, was diagnosed with the rare genetic condition Bachmann-Bupp syndrome a few years ago.

Image credit:TAYLOR BALLEK, SPECTRUM HEALTH BEAT

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Kelly Berthoud remembers the day in 2019 when her daughter Marley sprouted her first eyebrows. Already four years old at the time, Marley had been hairless for most of her life, one of several characteristics about the young girl that scientists and physicians had spent years working to explain. But with the family ensconced in the living room on that morning just before Christmas, each tiny blonde hair, now growing as the result of an experimental drug Marley had recently started taking, was a gift. “We were sitting on the couch and the sunshine was hitting her just right,” Berthoud recalls. “I remember whipping my head around when I noticed.”

Marley had in fact been born with silver hair, but shortly after, it had fallen out in thick clumps. Her head was also unusually large, and a neonatal MRI revealed that sometime before her birth she had suffered a brain ...

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Meet the Author

Amanda Heidt
Amanda first began dabbling in scicom as a master’s student studying marine science at Moss Landing Marine Labs, where she edited the student blog and interned at a local NPR station. She enjoyed that process of demystifying science so much that after receiving her degree in 2019, she went straight into a second master’s program in science communication at the University of California, Santa Cruz. Formerly an intern at The Scientist, Amanda joined the team as a staff reporter and editor in 2021 and oversaw the publication’s internship program, assigned and edited the Foundations, Scientist to Watch, and Short Lit columns, and contributed original reporting across the publication. Amanda’s stories often focus on issues of equity and representation in academia, and she brings this same commitment to DEI to the Science Writers Association of the Rocky Mountains and to the board of the National Association of Science Writers, which she has served on since 2022. She is currently based in the outdoor playground that is Moab, Utah. Read more of her work at www.amandaheidt.com.
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