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“My youngest child, Estella, was diagnosed at eight months old with an ultra-rare neurological disease called alternating hemiplegia of childhood. The power of a genetic diagnosis brought more than answers to my family; it brought a sliver of hope and potential for the future.”—Lacey

Hannah’s seizures began in infancy and persisted into adulthood, despite getting an epilepsy diagnosis. Exome sequencing at 25 years old revealed a de novo pathogenic loss-of-function variant that made her medications contraindicated. Earlier testing could have changed her treatment path—and potentially prevented years of ineffective care.^†

Ethan experienced his first grand mal seizure and was admitted to the hospital at 15 months old. It was the start of a diagnostic odyssey that continued into adulthood, until he finally received an exome test at 19 years old that provided clarity to guide his care.^†

Ben’s Labrune syndrome diagnosis led to improvements in his treatment.

“My advice to parents would be to try to get that information and push for exome sequencing as early as possible because the more information you have earlier, the more you’re potentially able to do and help your child’s long-term outcome.”—Andrea, Carlotta's mother

William missed some early motor milestones, experienced speech delays and stiff muscles, and exhibited behaviors consistent with autism. Ordering exome sequencing as a first-line genetic test could have uncovered answers within weeks. But because William’s doctors waited for signs and symptoms, it took over 7 years—and the onset of seizures—to receive a definitive diagnosis.^†