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There Must Be More?

In a recent New York Times Magazine piece, Lisa Sanders puts out a call for individuals showing symptoms that resemble those in a child with a rare genetic condition.

The search began with one child's diagnostic odyssey, Sanders reports. A 6-year-old girl named Kamiyah began having 'strange spells' when she was just a toddler. In the years that followed, Kamiyah's doctors suspected that she might be experiencing everything from ear infections to narcolepsy. It wasn't until Kamiyah underwent genetic testing through the National Institute's of Health's Undiagnosed Diseases Network that she was finally diagnosed. This year, her mother learned that Kamiyah carries a de novo mutation that leads to one form of paroxysmal dyskinesia, a condition that interferes with voluntary muscle control.

Even so, Sanders says, "Kamiyah was something of an outlier, even here." While she experiences muscle symptoms, the girl does not have seizures or intellectual disability, which often co-occur with paroxysmal dyskinesia. And that makes treatment tricky, prompting efforts to find more individuals with the same set of symptoms.

"There have been 21 patients with this exact genetic abnormality published in the scientific literature. But there are probably more than that here in the real world," Sanders writes. "Does your child, nephew, granddaughter, patient have a disorder that looks like Kamiyah's? Let us know."