Suburban family warns others after daughter diagnosed with Metachromatic Leukodystrophy

CHICAGO - A suburban family is in a race against time after their daughter was misdiagnosed for months. They are sharing their story to alert other families to a rare, but often overlooked disease.

"No one knows the child better than the parent and if they feel like something is wrong, then they need to advocate as loud as they can for their children," said Krystle Meyers.

At the age of eight, her daughter, Amelia, began exhibiting odd symptoms. Before that, she played soccer and dress up while excelling in school. Then, the unexplainable happened.

"She was once a really great reader, and then she started to struggle with reading, so that was a big red flag," Krystle said. "When we were preparing her for second grade, she couldn't write her name anymore."

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Amelia’s Marengo elementary school recommended she be tested for autism, dyslexia and ADHD. All tests came back negative.

Amelia started falling down and suffering silent seizures. It took months to see a specialist. Then, even they couldn’t come up with a definitive answer.

"She started some tip toeing. Any neurologist that you talk to would be like something's up, that's a red flag, something's going on here," said Aaron Meyers, Amelia’s father.

At the age of nine, a simple test was recommended, an MRI. Within minutes, Amelia was diagnosed with a white matter genetic brain disease called Metachromatic Leukodystrophy. It was progressing rapidly.

"Unfortunately, it affects her brain, her legs. She will have issues with eating, talking, basically everything," said Krystle.

Amelia Meyers | Provided

Dr. Marc Patterson treated Amelia at the Mayo Clinic and explains the genetic condition like a traffic jam.

"If you have a traffic jam, the traffic can't move properly in the city. Things can't be delivered to where they need to go. The trash that needs to be taken out isn't, so you get consequences of that. Because of these compounds of things in the cells, the cells malfunction and eventually die," said Dr. Patterson.

Without treatment, life expectancy with the condition is five years. The delay in a diagnosis has made Amelia ineligible for intervention. Her parents believe they were failed by their school, pediatrician and initial neurologist.

"There are literally thousands of these rare diseases and there's no doctor in the world who knows all of them and can always recognize all of them," said Dr. Patterson. "No one knows better than a parent if their child isn't right. If you've sought help and your physician isn't able to give you an answer, you may need to get another opinion."

The Meyers want school staff and pediatricians to have more information about neurological disorders. For now, they are hoping for a miracle for the little girl who loves unicorns and won’t give up.

Amelia’s parent are big advocates for genetic testing for expectant parents. They’ve learned one of out of ten people carry a gene mutation that can cause a serious disorder or disease.