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Doctors Treat Girl s Genetic Disorder with Repurposed Drug

2 years into treatment, girl with new genetic disorder much improved

2 years into treatment, girl with new genetic disorder much improved
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Mattawan girl leading way with treatment after being first diagnosis for rare genetic disorder

Mattawan girl leading way with treatment after being first diagnosis for rare genetic disorder A West Michigan girl is the first to ever be diagnosed with Bachmann-Bupp syndrome, a rare genetic mutation. and last updated 2021-07-16 22:43:45-04 MATTAWAN, Mich. — Six-year-old Marley Berthoud is on the move. “It’s just been this continuum of advancements,” said Kelly Berthoud, Marley’s mom. “We’re seeing a lot of progression with her movements.” Marley’s ability to scoot through her Mattawan home and her head full of hair are just some of the changes she’s recently experienced. “It’s awesome to watch that she’s progressing so rapidly,” said Kelly. “For so long, the first four years of her life, she was very basic function.”

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