Cara Gilmore, a patient with adult onset Niemann-Pick disease type C (NPC), discusses her diagnostic journey.
NPC is characterized by an inability of the body to transport cholesterol and other lipids inside cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue.
As Ms. Gilmore describes, an adult onset NPC diagnosis can take a long time as genetic testing is often needed for an official diagnosis.
For more information about NPC and other metabolic disorders, visit checkrare.com/...
29 авг 2024
