Patient stories

Hear from families who turned to genetic testing in search of answers. Explore their journeys to a genetic diagnosis, the challenges they faced along the way, and what finding answers has meant for their families.

Featured blog posts

Rapid Genome Sequencing

Cayden’s story: How rapid genome sequencing in the NICU helped his family act early

A smiling family of four posing outdoors in a flower-shaped frame with text about family testing.

Cerebral Palsy

Rosie’s story: How genetic testing defined a journey beyond cerebral palsy

Genome

Genomics

FRRS1L

Everly’s story: How genome sequencing led to an FRRS1L diagnosis

Mora’s story: How an early SYNGAP1 diagnosis changed her care

Developmental

Epilepsy

Exome

Rare Disease Diagnostics

Mora’s story: How an early SYNGAP1 diagnosis changed her care

Maxwell's story: How genetic testing turned uncertainty into a roadmap for action

Rare Disease Diagnostics

Epilepsy

Exome

Maxwell's story: How genetic testing turned uncertainty into a roadmap for action

Cerebral Palsy

Diagnostic Odyssey

Genetic Testing

Rare Disease Diagnostics

Exome

Abbie's story: How broader genetic testing changed her cerebral palsy diagnosis

Genome

Layla’s story: Three hospitals. Two surgeries. One rare disease diagnosis

Cerebral Palsy

Evelyn’s story: When a cerebral palsy diagnosis wasn’t enough

Rare Disease Diagnostics

Savannah’s story: How exome testing diagnosed CTNNB1 Syndrome

Newborn

Margot’s story: A CDKL5 diagnosis through genome-based newborn screening

Rare Disease Diagnostics

Bodhi’s story: How exome testing diagnosed Cabezas Syndrome

Science that serves people.

We’re scientists, but we’re also parents, siblings, and caregivers who understand how powerful an answer can be.

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Patient stories

Featured blog posts

Everly’s story: How genome sequencing led to an FRRS1L diagnosis

Mora’s story: How an early SYNGAP1 diagnosis changed her care

Maxwell's story: How genetic testing turned uncertainty into a roadmap for action

Abbie's story: How broader genetic testing changed her cerebral palsy diagnosis

Layla’s story: Three hospitals. Two surgeries. One rare disease diagnosis

Evelyn’s story: When a cerebral palsy diagnosis wasn’t enough

Savannah’s story: How exome testing diagnosed CTNNB1 Syndrome

Margot’s story: A CDKL5 diagnosis through genome-based newborn screening

Bodhi’s story: How exome testing diagnosed Cabezas Syndrome

Science that serves people.

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