MSU Miracle for Marley

This was the first FDA-approved single-patient study in the world to treat a patient with an ODC1 mutation using DFMO.
Doctors find treatment for rare illness
Published: Aug. 5, 2021 at 7:50 PM EDT
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EAST LANSING, Mich. (WILX) - The first FDA approved single-patient study in the world to treat a patient with this rare genetic syndrome was made possible with the help of two Michigan State University professor’s in partnership with Spectrum Health.

Six-year-old Marley Berthoud of Michigan was born with a significant brain hemorrhage, leading doctors to a complex mystery of a new rare genetic syndrome call Bachman Bupp syndrome.

“There are so many days I look at my life and I’m like how is this our life?” said Marley’s mother, Kelly Berthoud. “We didn’t have any answers for the first 18 months of her life, there was no information and that was really hard to just go about our daily life.”

“Nobody had ever seen a human being that had a mutation in that particular gene,” said MSU Professor of Pediatrics, Dr. Andre Bachmann.

This gene and its proteins are crucial to cell survival in a human and contribute to the development process including motor and cognitive skills. It caused Marley to completely lose her hair as an infant and prevented her from being able to talk and crawl.

But researchers had found an FDA approved drug that could possibly help.

I connected the dots at that part and I said my goodness if that’s the same what we see in the patient the chances are the drug that’s already available to block that ODC gene, the drug could be used and that’s where it started for me as a scientist,” Dr. Bachmann said.

The drug had only been tested on a mouse before. Marley was the first patient to receive the FDA approved treatment for her rare genetic disorder and it was scary for the doctors.

“You sit down in front of a family who has a very young child and you say we think there is a treatment that would help, we never given this to a human, we think it’s safe, it worked in a mouse model, that’s a huge leap of faith to take,” said MSU Clinical Assistant Professor, and Spectrum Medical Geneticist, Dr. Caleb Bupp.

Though, that leap of faith was worth it.

“A month into treatment when she sprouted Eyebrows, I was just like stunned,” Dr. Bupp said.

“We are continuing to see her progress so drastically with her cognitive ability and also her physical abilities, a huge increase in muscle tone and her ability to move around the house,” Berthoud said.

The Berthoud family couldn’t be more thankful for the team and effort they put into her daughter.

“It’s surreal honestly. There has never been a doubt in my mind that they don’t have Marley’s best interest in mind,” Berthoud said.

Doctors say Marley will most likely have to take this medicine for the rest of her life to continue seeing improvements.

The doctors said usually it takes two decades to find a treatment for a new disease but for Marley’s case it took less than two years.

Copyright 2021 WILX. All rights reserved.

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