Children's Hospital Colorado

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Genetics and Inherited Metabolic Diseases Patient Stories

We help families navigate decisions about genetic conditions and testing.

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For some families, getting an accurate diagnosis and the right treatment for a genetic condition can feel like a mystery. Fortunately, we have some of the best medical detectives in the country — and all the best specialists to provide the best care. Read these stories of finding hope and healing.

Meet the families we've helped

Jake: Defying Deep Vein Thrombosis

As a young athlete, Jake was diagnosed with deep vein thrombosis. The condition is not only rare, but also mysterious. See how our experts have helped him thrive.

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Wyatt: Achieving Milestones with Achondroplasia

Wyatt was born with achondroplasia and multiple respiratory conditions landed him in the hospital. See how he pulled through and is thriving as a little person today.

Child holding a 'First Day of Kindergarten' sign, smiling, with a U.S. flag and a school building in the background.

Rowan: Diagnosing Pediatric Cancer Using Genetic Testing

Rowan’s rare pediatric cancer diagnosis took time, but thanks to genetic testing and precision medicine, a targeted immunotherapy is helping him heal.

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Grayson: How Genetic Testing Saved His Life

See how genetic testing and our team’s expertise helped save Grayson from a rare genetic condition and help other kids like him.