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Back to GeneDx for Families

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

Woman smiling and embracing a young boy lying on a couch with text about Maxwell's patient story.
Rare Disease Diagnostics
Maxwell's Story: How Genetic Testing Turned Uncertainty Into a Roadmap for Action
Developmental
Mora’s story: How an early SYNGAP1 diagnosis changed her care
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
Dr. Tommy General Pediatrics Genetic Testing Webinar Blog
Pediatrics
3 Things General Pediatricians Should Know About Earlier Genetic Testing
Abbie's Story: How Broader Genetic Testing Changed Her Cerebral Palsy Diagnosis
Cerebral Palsy
Diagnostic Odyssey
Genetic Testing
Rare Disease Diagnostics
Exome

Abbie's Story: How Broader Genetic Testing Changed Her Cerebral Palsy Diagnosis

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Patient Stories
Three Hospitals. Two Surgeries. One Rare Disease Diagnosis: Layla’s Story
Genome

Three Hospitals. Two Surgeries. One Rare Disease Diagnosis: Layla’s Story

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Patient Stories
Evelyn’s Story: When a Cerebral Palsy Diagnosis Wasn’t Enough
Cerebral Palsy

Evelyn’s Story: When a Cerebral Palsy Diagnosis Wasn’t Enough

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Patient Stories
Savannah’s Story: How Exome Testing Diagnosed CTNNB1 Syndrome
Rare Disease Diagnostics

Savannah’s Story: How Exome Testing Diagnosed CTNNB1 Syndrome

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Patient Stories
Bodhi’s Story: How Exome Testing Diagnosed Cabezas Syndrome
Rare Disease Diagnostics

Bodhi’s Story: How Exome Testing Diagnosed Cabezas Syndrome

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Patient Stories
Carlotta’s Story: How Exome Sequencing Helped End a Search for Answers
Rare Disease Diagnostics

Carlotta’s Story: How Exome Sequencing Helped End a Search for Answers

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Patient Stories
Ben’s Story: How Genome Sequencing Diagnosed Labrune Syndrome
Epilepsy

Ben’s Story: How Genome Sequencing Diagnosed Labrune Syndrome

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Patient Stories

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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