by Peter Ciszewski | Mar 9, 2021
Emily Holtvluwer, mother of two young children with spinal muscular atrophy (SMA), discusses the two different diagnostic journeys her kids went through to get a diagnosis. Her oldest child was not diagnosed for several months after symptoms began to appear...
by Peter Ciszewski | Mar 8, 2021
Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of Pediatrics and Director of the Lysosomal Storage Disorders Program at UPMC Children’s Hospital of Pittsburgh, discusses why the process of newborn screening for lysosomal storage disorders can be so...
by Peter Ciszewski | Mar 5, 2021
Priya Kishnani, MD, Professor of Pediatrics at the Duke University School of Medicine, discusses the benefits that newborn screening for Pompe disease can provide for both the patient and research community. Pompe disease is a rare inherited lysosomal storage...
by Peter Ciszewski | Mar 5, 2021
Chelsea Johnson, mother of a boy with hypothalamic obesity (HO), discusses her and her son’s experience with his condition. HO is a rare endocrine disorder characterized by severe and debilitating obesity. Signs and symptoms of hypothalamic obesity include...
by Peter Ciszewski | Mar 4, 2021
Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, discusses research confirming the safety of Fabry patients continuing enzyme replacement therapy (ERT) during pregnancy. Fabry disease is a rare X-linked...
