![Newborn screening indicated Dean (left) and Danny (right) had Fabry disease](/sites/default/files/styles/landscape_133_4x3_160x120_1x/public/2024-08/image-Mason-Family-Fabry-Disease-780x439-2.jpg?itok=KgeRoa6o)
Division of Human Genetics Patients Stories Listing
Our team of attending physicians, genetic counselors, nurses and dietitians work with a variety of departments at CHOP to ensure a continuity of care and individualized treatment for children with genetic conditions.
Appointments and referrals
![Newborn screening indicated Dean (left) and Danny (right) had Fabry disease](/sites/default/files/styles/landscape_133_4x3_160x120_1x/public/2024-08/image-Mason-Family-Fabry-Disease-780x439-2.jpg?itok=KgeRoa6o)
![](/sites/default/files/styles/landscape_133_4x3_160x120_1x/public/gene-therapy-sickle-cell-disease-segun-s-story-16x9.jpg?itok=5yC51T2W)
Gene Therapy for Sickle Cell Disease: Segun’s Story
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Beckwith-Wiedemann Spectrum: Chelsea's Story
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EDEM3-CDG: Austin, Savannah and Lily’s story
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WAGR Syndrome: Miranda’s Story
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Beckwith-Wiedemann Syndrome and Pancreatoblastoma: Kaitlyn’s Story
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‘KOP Makes My Day More Predictable’: Alex’s Family’s Story
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Bone Marrow Transplant to Treat Hurler Syndrome: Josie’s Story
![](/sites/default/files/styles/landscape_133_4x3_160x120_1x/public/bone-marrow-transplant-patient-ethan-family-16x9.jpg?itok=evjFNrdL)
Bone Marrow Transplant for Hurler Syndrome: Ethan’s Story
![](/sites/default/files/styles/landscape_133_4x3_160x120_1x/public/liver-transplant-patient-josie-16x9_0.jpg?itok=PVUISLpP)