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Kansas City family searching for million dollar miracle for toddler with rare genetic disease

Posted at 4:14 PM, Oct 30, 2019
and last updated 2019-10-30 21:38:52-04

KANSAS CITY, Mo. — A Kansas City, Missouri, family is doing everything it can do save its toddler. A scientific breakthrough and millions of dollars stand in the way.

Charlie Fry will turn 2 years old next month.

In August, Charlie was diagnosed with a rare genetic disease called SLC6A1. He's has been affected by tremors, possible seizures and delays in milestones.

"We have been on a long journey for answers for our son," Charlie's mom, Kim Fry, said.

The Fry family describes Charlie as the life of the party, but that could soon change. Kim said the disease causes him to have trouble moving and communicating, and doctors say it will only get worse as Charlie gets older.

"Right now, there's not a huge difference between him and the kids in his peer group, but as he ages we're just concerned that there's going to be a gap there that just continues to grow," Charlie's dad, Nate, said.

When Charlie was only a few months old, his parents noticed symptoms that included tremors and delayed speech that his older sister never displayed. Genetic testing confirmed the rare disease.

"I just started Googling to look for clinical trials or something, because at that time, we were told they only knew of 34 people in the world with this disease and that seizures were going to be a part of his life and there was nothing we could do about it," Kim said.

Unable to sit back and hope for the best, Kim started looking for answers and found a group of scientists searching for a cure.

A gene therapy treatment is in development, but it's a race against the clock for the Fry family. Millions of dollars need to be raised to advance the research before Charlie's first serious seizures start.

The family has started a fundraiser in hopes of a cure.

"We're just worried all the time," Kim said. "His second birthday is coming up and it's really scary to enjoy him being 2, because next is 3 and then what happens at 3?"

The Fry family is trying to raise $50,000 to help find a cure for Charlie, and other children affected by the rare genetic disease.