Nico suffered from multiple seizures as early as on the 8th day of his life. Doctors were able to identify the genetic disorder based on machine learning algorithms.
Nico was admitted at Rady Children’s Hospital with severe seizures that were flat-lining the 8-day-old’s brain activity. The seizures were traced to a pair of genetic mutations causing a rare condition called pyridoxine-dependent epilepsy, which is treatable with a form of vitamin B6. Within 36 hours of treating the newborn with the right vitamin, seizures stopped.
Without genetic testing, doctors would likely have had to play a weeks-long guessing game, trying one anti-seizure medication after another until they eventually found the right one.
While this example is dramatic, the reality is that most kids don’t need an extremely-rapid genetic workup. Their conditions are stable enough that taking a few days to get the results back doesn’t cause any setbacks. But, for a small group of kids, time really does matter.
Clinical lab director Shimul Chowdhury, who has a doctorate in interdisciplinary biomedical sciences, has been right in the middle of the diagnosis process since Rady bought its first set of genome sequencers.
He said seizures are the biggest area where time to diagnosis really makes a difference. The longer seizures last, the more damage is done to the brain. “For these uncontrollable-seizure kiddos, every hour makes a difference, for sure,” he said.
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