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CHAMPLIN, Minnesota (WCCO) -- When a 17-year-old Minnesota boy got sick with a mysterious illness, his mom went on a quest for answers.
Connor Martin, of Champlin, stays busy.
"I play violin. Right now, I play softball," said Connor Martin.
He also loves going to Minnesota Twins games to see his favorite players. But a little more than three years ago, Martin and his family were thrown a curveball.
"It just felt like he just was sort of slowing down and I just noticed his reaction time was slower than usual, he was perhaps more clumsy than usual," said mother Jessica Martin.
His bloodwork and other tests were normal, but Jessica Martin kept pushing for answers to her son's medical mystery.
He was quickly referred to children's neurologist Dr. Jessica Goldstein, at M Health Fairview Masonic Children's Hospital.
"There's a lot of detective work. Really looking for clues or key elements that kind of point you in one direction or the other," said Goldstein.
Within a few months, there was a diagnosis: Niemann-Pick disease type C (NPC).
"It was terrifying," said Jessica Martin.
NPC is a rare, inherited, progressive and fatal neurodegenerative disease. Jessica Martin pushed for her son to be part of a clinical trial for a new drug called Miplyffa.
Since starting the medicine in late 2022, Connor Martin has made improvements.
"It really did stabilize things for him pretty quickly," said Goldstein. "We've seen improvement in swallowing, in speech, in energy level."
"The medicines have definitely given us more time and more memories and more opportunities to just enjoy our child," said Jessica Martin.
Which, for Connor Martin, includes being in the stands for Twins opening day.
"We have an OK team this year," said Connor Martin.
And his mom will continue to swing for a cure.
"For these rare diseases, gene therapy is really the endgame," said Jessica Martin. "These treatments are hopefully going to buy us all the time we need to get there."
