The Benefits of Newborn Screening for Pompe Disease

  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...

Is It Safe For Pregnant Fabry Patients to Continue ERT?

  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...

Telling New Parents About a Rare Disease Diagnosis: SMA

  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,...