Patient Stories from Medical Genetics at UPMC Children's Hospital of Pittsburgh

Medical Genetics

Read the remarkable stories of some of our patients diagnosed by genetic testing and treated at UPMC Children's.

Ehlers-Danlos Syndrome - Medical Genetics
Kailynn was diagnosed with Ehlers-Danlos Syndrome and underwent several surgeries. Read more about her experience at UPMC Children's Hospital of Pittsburgh.
Read Kailynn's Story >>
Loeys-Dietz Syndrome - Medical Genetics
Jeff found out about his Loeys-Dietz Syndrome as an adult. Read his story here.
Read Jeff's Story >>
Aicardi-Goutieres syndrome (AGS) - Medical Genetics
Brie was diagnosed with Aicardi-Goutieres syndrome (AGS) on March 1, 2021. Read her story here.
Read Brie's Story >>
MECP2 Duplication Syndrome – Pediatric Medical Genetics
Sonny was diagnosed with MECP2 duplication syndrome in May 2022. Read about his experience with Medical Genetics and numerous other specialists at UPMC Children's Hospital of Pittsburgh.
Read Sonny's Story >>
MECP2 Duplication Syndrome – Pediatric Medical Genetics
Dominic has MECP2 duplication syndrome. Read more about his experience with the Medical Genetics team at UPMC Children’s Hospital of Pittsburgh.
Read Dominic's Story >>
MECP2 Duplication Syndrome – Pediatric Medical Genetics
Jayden and Josiah were diagnosed with MECP2 duplication syndrome. Read about their experience with Medical Genetics and numerous other specialists at UPMC Children's Hospital of Pittsburgh.
Read Jayden and Josiah's Story >>