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.

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 >>
Mindy suffered from Phenylketonuria (PKU). Read about the success of her procedure and experience at UPMC Children's Hospital Pittsburgh.
Read Mindy's Story >>
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 Children's.
Read Isaac's Story >>
Randall suffered from PI3K-delta syndrome. Read more about his experience and success of his procedure at UPMC Children's.
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 >>

Contact Us

At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.

For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with a rare disease, please contact:

Amy Lukanski, MSN, RN, CPN
Phone: +1-412-692-RARE or 412-692-7273
Email: amy.lukanski@chp.edu