After their daughter was misdiagnosed for months, a suburban family is in a race against time. They are sharing their story to raise awareness of 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.
Amelia, her eight-year-old daughter, began exhibiting strange symptoms. Previously, she excelled in school while playing soccer and dressing up. Then the unexplainable occurred.
“She was once a really great reader, and then she started to struggle with reading, so that was a big red flag,” Krystle explained. “When we were preparing her for second grade, she couldn’t write her name anymore.”
Amelia’s elementary school in Marengo suggested she be tested for autism, dyslexia, and ADHD. All of the tests were negative.
Amelia began to collapse and have silent seizures. Seeing a specialist took months. Even they couldn’t come up with a conclusive answer.
“She began to walk on tiptoe. Any neurologist you speak with would say something’s wrong, that’s a red flag, something’s wrong here,” Amelia’s father, Aaron Meyers, stated.
A simple test, an MRI, was recommended at the age of nine. Amelia was diagnosed with Metachromatic Leukodystrophy, a white matter genetic brain disease, within minutes. It was moving quickly.
“Unfortunately, it has an impact on her brain and legs. She will struggle with eating, talking, and pretty much everything else,” Krystle stated.
Dr. Marc Patterson, who treated Amelia at the Mayo Clinic, compares Amelia’s genetic condition to a traffic jam.
“When there is a traffic jam, the city cannot function properly. Things cannot be delivered to their destination. The trash that should be picked up isn’t, so you suffer the consequences. The cells malfunction and eventually die as a result of these compounds of things in the cells,” Dr. Patterson stated.
Without treatment, the condition has a five-year life expectancy. Amelia is ineligible for intervention due to the delay in diagnosis. Her parents believe their school, pediatrician, and initial neurologist failed them.
“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,” Dr. Patterson explained. “Nobody knows better than a parent when something is wrong with their child. If you’ve sought help and your doctor is unable to provide an answer, you may need to seek a second opinion.”
The Meyers want more information about neurological disorders for school staff and pediatricians. For the time being, they are hoping for a miracle for the little girl who adores unicorns and refuses to give up.
Amelia’s parents are strong supporters of genetic testing for expecting parents. They discovered that one out of every ten people has a gene mutation that can lead to a serious disorder or disease.
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