These mice from China could help save a boy in the United States

Amber Freed noticed distinct differences in her twins Riley and Maxwell shortly after they were born.

“I realized Maxwell had never used his hands. He had never held a rattle. He wasn’t interested in the world around him,” Amber Freed said. “He wasn’t touching our face or trying to grab at my earrings.”

Mice in a box [Photo: AFP]

Maxwell was diagnosed with a rare disorder called SLC6A1, named for the gene which interrupts brain communications when it malfunctions.

Freed’s intense search for a cure led her to a Chinese lab which provided scientists with five mice whose SLC6A1 genes have been altered just like Maxwell’s.

“The mice that have that mutation have compatible symptoms with what we see in people with SLC6A1-related disease,” said Austin Larson, Maxwell’s pediatrician at Children’s Hospital Colorado . “And so what that allows us to do is to see if treatments for the condition change the course of the disease in mice.”

If the mice show improvement, Freed hopes to get approval for a gene therapy trial for her son before SLC6A1-related epileptic seizures begin.

“It is a race against the clock,” Freed said. “With the onset of seizures if your brain is misfiring, you lose all of that developmental time, and while your brain is seizing, a lot of kids suffer regression and start losing the skills they fought so hard to gain.”

Dr. Larson said Freed’s efforts to enlist scientists in her campaign, highly unusual for such families, and it could pay off in the end.

“People like Amber who have the motivation and the capability to do things like this, I really believe that paves the way for other therapies in the future and has benefits that go far beyond her son,” Larson said.