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Mattawan girl leading way with treatment after being first diagnosis for rare genetic disorder

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Posted at 10:08 PM, Jul 16, 2021

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.”

While still in utero, Marley suffered a brain hemorrhage, and within a few days of her birth, she lost all of her hair, which puzzled medical professionals.

Following years of tests, at age three, doctors diagnosed Marley with what would eventually be called Bachmann-Bupp syndrome, named after Caleb Bupp, M.D., a medical geneticist at Spectrum Health Helen DeVos Children’s Hospital, and Andre Bachmann, a professor of pediatrics at Michigan State University College of Human Medicine, who discovered the condition.

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“She is one of a kind, and it was very surreal that this has not been identified in a human before,” said Kelly. “It was like, ‘Then why my human?’”

Bachmann-Bupp syndrome is a mutation of a person’s ODC1 gene. It’s involved in processing polyamine, which is important for growth.

Symptoms include developmental delays, low muscle tone, and hair loss.

Doctors know of seven other people worldwide with the syndrome.

“It’s kind of terrifying to not know what to do,” said Bupp.

Bupp says their efforts into understanding why the gene mutates are continuing, but prior research quickly pointed them to DFMO, or difluoromethylornithine, as a possible treatment.

It’s a drug that has long been used in treating tropical diseases and pediatric cancers.

After receiving approval, Marley started her treatment in November 2019, coinciding with her developments. This week, another patient, a boy from California, received his first dose.

“A patient that walked in our doors — we were able to find her disease and treat it — and that’s just cool,” said Bupp. “That makes you feel good at being part of this community.”

Spectrum Health has since started an international center focused on polyamine disorders with the hope that it could lead to additional research and resources for patients. According to Bupp, it’s believed there may be up to 25 diseases similar to Marley’s syndrome.

“What we want to try to understand as we move along is, why do these things change? What time do they change? What level of drug do we need to give them? Some are a really low dose; some are a really high dose. If we give more, would she get better faster? These are just things that we don’t know right now,” said Bupp.

Kelly is hopeful it will allow other patients to reach milestones previously not thought of as possible.

“She doesn’t know the impact that she has on the world at this point because now there’s kids outside of the United States that could potentially benefit from this treatment one day,” said Kelly. “She’s a big deal. She’s very modest. She doesn’t realize it, you know.”

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