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Massachusetts man with rare disease denied experimental drug treatment

Marshfield mom fights for son's quality of life after experimental drug pulled off the market
Marshfield mom fights for son's quality of life after experimental drug pulled off the market 03:15

MARSHFIELD - A Massachusetts man with an incredibly rare illness was getting better thanks to an experimental drug, but suddenly, federal regulators pulled it off the market. His family is now fighting for his quality of life.

Josh Eaton's story   

"It's been a long one," Alexandra Eaton told WBZ-TV from her Marshfield home. "It's been challenging, but he's persevered."

You can see the love in Eaton's eyes, looking at her son, whose care and comfort consumes her entire life. Josh, who is 26, lives with rare and debilitating Arginase 1 Deficiency.

"He's missing the arginase enzyme in his body to break down arginine. The arginine is toxic, it's a neurotoxin," said Alexandra Eaton.

Untreated as a toddler, the condition damaged Josh's brain. He was diagnosed at three, but dangerous ammonia levels in his body left him cognitively impaired and intellectually disabled. He suffers seizures every day.

Josh and Alexandra Eaton
Josh and Alexandra Eaton CBS Boston

"He gets medicine nine times a day. He gets formula nine times a day," Eaton said. "My whole day is consisting of G tube feeds, assisting with changing him. We try to get him out of the house to have a little better quality of life."

The experimental drug 

In 2022, after a three-month hospital admission, Josh's quality of life did change - thanks to an investigational trial for the drug pegzilarginase.

"It was eight months, and during those eight months he felt better, he was eating better, his expressive language was impressive. He would communicate what was hurting him," Eaton said.

Despite its success, the drug was not approved. And even as it moves forward in Europe, patients here still suffer. Mom suffers too, her hope, and even the simplest dreams, stolen.

What's next

"My goal is to rent an RV and take him down to Sesame Street Place and go see Elmo and Big Bird and Cookie Monster," Eaton said. "We need to get you back on drug Josh huh? Yeah." 

Alexandra explained Josh was the 49th patient in the U.S. to get approved for that trial, so the condition is extremely rare. Families in the U.S. are encouraged its moving ahead in Europe because of different standards and are clinging to hope their loved ones could get back on the medicine through expanded access or compassionate use.

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