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.

Reagan suffered from Trifunctional Protein (TFP) Deficiency. Read more about her experience and success of her procedure at UPMC.
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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 >>