Center for Rare Disease Therapy Patient Stories

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.

Mia was diagnosed with GEMIN5. Read more about her experience at the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh.
Read Mia's Story >>
Connor suffered from GM3 Synthase Deficiency. Read more about her experience with cord blood transplant at UPMC Children’s Hospital of Pittsburgh.
Read Connor's Story >>
Gino was diagnosed with KIF1a Associated Neurological Disorder. Read more about his experience at the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh.
Read Gino's Story >>
Niko suffered from Osteogenesis Imperfecta. Read more about his experience and success of his procedure at UPMC Children's Hospital of Pittsburgh.
Read Niko's Story >>
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.
Read Isaac's Story >>
Randall suffered from PI3K-delta syndrome. Read more about his experience and success of his procedure at UPMC.
Read Randall's Story >>
Reagan suffered from Trifunctional Protein (TFP) Deficiency. Read more about her experience and success of her procedure at UPMC.
Read Reagan's Story >>
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.
Read Levi's Story >>
Grace suffered from Steroid Resistant Nephrotic Syndrome. Read about the success of her procedure and experience at UPMC.
Read Grace 's Story >>
Ally suffered from Combined Immune Deficiency. Read more about the success of her procedure and experience at UPMC Children's Hospital of Pittsburgh.
Read Ally 's Story >>
Leah suffered from Maple Syrup Urine Disease. Read about her experience at UPMC Children’s Hospital of Pittsburgh.
Read Leah's Story >>
Joshua suffered from Glycogen Storage Disease. Read more about the success of his procedure at UPMC Children's Hospital of Pittsburgh.
Read Joshua 's Story >>
Lily suffered from Krabbe Disease. Read about the success of her procedure and experience at UPMC Children's Hospital Pittsburgh.
Read Lily's Story >>