New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more

Patient stories

Rare Disease Month spotlight: The top five psychological benefits of a genetic diagnosis

Every day we hear from families about what a difference a genetic diagnosis made in their lives. Here’s what they have to say.

One mom’s seven-year journey to find answers for her son’s illness

Ben’s illness started with seizures when he was just six months old.

His mother, Ashley, never stopped searching for answers—and finally found them with a genome test.

For Carlotta’s family, early intervention meant everything

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