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...
by Peter Ciszewski | Mar 4, 2021
Regina Philipps, mother of a three-year-old diagnosed with spinal muscular atrophy (SMA), discusses what she would like clinicians to talk about with parents of recently diagnosed SMA. Ms. Philipps, who learned of the diagnosis when her child was 10 months old,...
by Peter Ciszewski | Mar 3, 2021
Melanie McKay, mother of a young boy with infantile-onset Pompe disease, talks about the importance of newborn screening for this rare, treatable condition. Pompe disease is a rare inherited lysosomal storage disorder due to an inadequate level of the enzyme...
