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A treatment for this toddler’s rare genetic condition was in sight. Then the pandemic hit.

Covid-19 has shut down labs and rare disease research, setting back Amber Freed and her son Maxwell.

Amber Freed and her son Maxwell.
Brad Livengood Photography

Amber Freed’s singular mission is to help scientists develop a treatment for her son. But the pandemic has put the success of that mission into question.

Freed is a mother to twins Riley and Maxwell, who just turned 3 this year. Riley is a healthy toddler. But Maxwell has a rare genetic disease that has led to delays in his development. He’s nonverbal, and he has a movement disorder. The condition responsible for these symptoms is called SLC6A1, after the gene that’s affected, and Maxwell was only the 34th person in the world to get this diagnosis. if left untreated, the disease could soon cause debilitating epilepsy.

When doctors broke the news of the diagnosis to Freed, they told her there was no treatment or cure for her son, and that her family would have to prepare to live with Maxwell’s condition. But Amber didn’t accept that.

“Every instinct in my body said, ‘You’ll have your whole lifetime to cry for yourself,’” Freed said. “At this exact moment, you put your feelings and sadness aside. This isn’t about you. This is about Maxwell. And you fight like the third monkey on the loading deck to Noah’s Ark, and it’s starting to rain.”

This is how Freed’s quest began. She taught herself microbiology, so she could understand her son’s condition. She lobbied scientists to take up the research, which wasn’t on their radar given how rare the disease is. She convinced scientists in China to make genetically engineered mice that could be sent to the US and act as a model of Maxwell’s disease. And she fundraised — a necessary step given the high cost of the gene therapy research.

All told, she’s raised more than $1 million. “What we’re doing will be the building blocks of all gene therapies to come after us,” Freed told Arielle Duhaime-Ross on an episode of Reset in January.

Even though she was racing against time, she was optimistic that Maxwell would be treated this year, as experiments on the genetically modified mice were about to begin.

Then the pandemic hit.

Covid-19 has brought most non-coronavirus medical research to a halt, and closed labs.

“I never anticipated or thought something like this could happen,” Freed said, “but also it was a state of devastation like I felt when Maxwell was originally diagnosed that lightning hit us. The unthinkable happened. And here, lightning has hit again. A black swan event for the world that no one could have anticipated.”

Freed came back to Reset to talk about the impact of the pandemic on Maxwell and her family — as well as rare disease research as a whole. Listen to the full episode below.

The episode also features a conversation with BuzzFeed science reporter Dan Vergano, who first wrote about Amber’s story and who talks about how the closure has impacted thousands of other kids with rare diseases, as well as clinical trials for other types of medical research.

Listen and read more:

Listen to the original Reset story from January

Dan Vergano’s reporting on this story for BuzzFeed

Back in January, Dan’s piece on how the mice were being used to develop a treatment

Milestones for Maxwell, Amber Freed’s website

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