Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh. Watch their stories below.
Born with CPTII, Jack is thriving thanks to the care he received at UPMC Children’s Hospital of Pittsburgh.
Andrew was diagnosed with very long chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder. His family sought out the expertise of the Center for Rare Disease Therapy.
Mindy suffered from Phenylketonuria (PKU). Read about the success of her procedure and experience at UPMC Children's Hospital Pittsburgh.
Connor suffered from GM3 Synthase Deficiency. Read more about her experience with cord blood transplant at UPMC Children’s Hospital of Pittsburgh.
Niko suffered from Osteogenesis Imperfecta. Read more about his experience and success of his procedure at UPMC Children's Hospital of Pittsburgh.
Isaac suffered from Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature syndrome. Read more about his experience and success of his procedure at UPMC Children's.
Randall suffered from PI3K-delta syndrome. Read more about his experience and success of his procedure at UPMC Children's.
Reagan suffered from Trifunctional Protein (TFP) Deficiency. Read more about her experience and success of her procedure at UPMC.
Levi suffered from Krabbe Disease. His family traveled from his home in Australia to receive care at UPMC Children’s Hospital of Pittsburgh. Learn more about his care.
Grace suffered from Steroid Resistant Nephrotic Syndrome. Read about the success of her procedure and experience at UPMC.
Ally suffered from Combined Immune Deficiency. Read more about the success of her procedure and experience at UPMC Children's Hospital of Pittsburgh.
Leah suffered from Maple Syrup Urine Disease. Read about her experience at UPMC Children’s Hospital of Pittsburgh.
Joshua suffered from Glycogen Storage Disease. Read more about the success of his procedure at UPMC Children's Hospital of Pittsburgh.
Lily suffered from Krabbe Disease. Read about the success of her procedure and experience at UPMC Children's Hospital Pittsburgh.
