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.

VLCAD Deficiency – Center for Rare Disease Therapy
Andrew was diagnosed with very long chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder, through newborn screening at home on Long Island, N.Y. His family sought out the expertise of the Center for Rare Disease Therapy. Read Andrew’s story.
Read Andrew's Story >>
Phenylketonuria (PKU) - 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.
Read Mindy's Story >>
GEMIN5 – Center for Rare Disease Therapy
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 >>
GM3 Synthase Deficiency – Center for Rare Disease Therapy
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 >>
KIF1a Associated Neurological Disorder (KAND) – Center for Rare Disease Therapy.
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 >>
Osteogenesis Imperfecta - Patient 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 >>
CANDLE Syndrome – Center for Rare Disease Therapy
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.
Read Isaac's Story >>
PI3K-delta syndrome – Center for Rare Disease Therapy
Randall suffered from PI3K-delta syndrome. Read more about his experience and success of his procedure at UPMC Children's.
Read Randall's Story >>
Trifunctional Protein (TFP) Deficiency – Center for Rare Disease Therapy
Reagan suffered from Trifunctional Protein (TFP) Deficiency. Read more about her experience and success of her procedure at UPMC.
Read Reagan's Story >>
Krabbe Disease – International Patients
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 >>
Steroid Resistant Nephrotic Syndrome – Center for Rare Disease
Grace suffered from Steroid Resistant Nephrotic Syndrome. Read about the success of her procedure and experience at UPMC.
Read Grace 's Story >>
Combined Immune Deficiency – Center for Rare Disease
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 >>
Maple Syrup Urine Disease – Center for Rare Disease
Leah suffered from Maple Syrup Urine Disease. Read about her experience at UPMC Children’s Hospital of Pittsburgh.
Read Leah's Story >>
Glycogen Storage Disease – Center for Rare Disease
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 >>
Krabbe Disease – Center for Rare Disease
Lily suffered from Krabbe Disease. Read about the success of her procedure and experience at UPMC Children's Hospital Pittsburgh.
Read Lily's Story >>