Living with NPC

  • NPC is highly variable, meaning that the age of onset and types and severity of symptoms can vary widely from one person to another. Some patients begin showing symptoms of the disease in the first few months of life while many others develop "late onset" NPC where symptoms do not appear until early adulthood.
  • NPC is often described based on when symptoms first appear:
    • Perinatal (shortly before and after birth)
    • Early infantile (3 months < 2 years)
    • Late infantile (2 to < 6 years)
    • Juvenile (6 to < 15 years)
    • Adult (15 years and greater)

Symptoms tend to progress faster in patients who are younger.

  • Symptoms of NPC include:
    • Enlarged liver or spleen
    • Jaundice (yellowing of the skin, mucous membranes and whites of the eyes)
    • Failure to thrive
    • Lack of muscle tone
    • Delays in development of mental and physical skills
    • Hearing loss
    • Problems with balance and mobility
    • Speech problems
    • Problems with swallowing
    • Cognitive decline
  • A condition known as vertical gaze palsy where it is difficult to look up or down, enlarged liver, enlarged spleen, or jaundice in young people are an indication that they should be tested for NPC.
  • In some cases, teenagers and adults who develop psychiatric problems including bipolar or psychotic tendencies may be experiencing neurological effects from NPC.

Disease Burden

  • A diagnosis of NPC can be extremely emotional for both the patient and their family or caregiver.
  • Factors such as difficulty leading up to diagnosis, lack of treatment options, and the impact of the disease on patients and caregivers can present physical, emotional and financial challenges.