Meghann Ferguson, Director-at-Large at the National Niemann-Pick Disease Foundation and mother of a 7-year-old boy with Niemann-Pick Disease Type C (NPC), describes her son’s diagnostic journey.
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.
As Ms. Ferguson explains, physicians noticed elevated levels of conjugated and unconjugated bilirubin as well as an enlarged liver and spleen during her son’s 24-hour check-up. Originally, they thought her son might have progressive familial intrahepatic cholestasis (PFIC), another rare lysosomal storage disorder, which affects the liver. Genetic testing was done on Ms. Ferguson, her husband, and her son which ultimately led to the diagnosis of NPC.
To learn more about Niemann-Pick disease and other rare neurological disorders, visit checkrare.com/diseases/neurology