Read the remarkable stories of some of our patients diagnosed by genetic testing and treated at UPMC Children's.
Kailynn was diagnosed with Ehlers-Danlos Syndrome and underwent several surgeries. Read more about her experience at UPMC Children's Hospital of Pittsburgh.
Jeff found out about his Loeys-Dietz Syndrome as an adult. Read his story here.
Brie was diagnosed with Aicardi-Goutieres syndrome (AGS) on March 1, 2021. Read her story here.
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.
Dominic has MECP2 duplication syndrome. Read more about his experience with the Medical Genetics team at UPMC Children’s Hospital of Pittsburgh.
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.
