Children's Hospital Colorado

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

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.

Cole: The Tree of Life

After diagnosing 6-year-old Devan Ortiz with x-linked adrenoleukodystrophy (X-ALD), bone marrow transplant physician Dr. Ralph Quinones used genealogy to catch it in his cousin, Cole Chavez, helping to save Cole's life.