Elizabeth Berry-Kravis, MD, PhD, co-director of the Molecular Diagnostics Section of the Genetic Laboratory at Rush Medical College in Chicago, talks about advocacy efforts for patients with Niemann-Pick Type C (NPC).
NPC is a disabling neurogenetic disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood. This very rare genetic disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. It can result in the patient’s death soon after birth or manifest as a chronic disorder with symptoms worsening slowly over time.
Multidisciplinary care management may be the best approach to helping patients with NPC (and their families or caregivers), because NPC affects different organs, muscle tone, and mental status.
To learn more about Niemann-Pick disease, go to https://checkrare.com/niemann-pick-disease-2/ and visit our Niemann-Pick Disease Type C Learning Center.