Impact of Niemann-Pick type C disease

Despite a range of therapies being available including drug treatments (both symptomatic and NP-C-specific), physical therapy, speech therapy and occupational therapy, Niemann-Pick type C disease (NP-C) remains a devastating condition that presents considerable challenges for patients and their families.

Impact on the patient

NP-C has a tremendous impact on patients’ quality of life, with detrimental effects on schooling and work.¹ The progressive nature of NP-C means that children perform poorly at school and find it difficult joining in with recreational and social activities. For adults, everyday activities, including the ability to work or drive, become severely restricted. Sufferers inevitably lose their independence and have to rely heavily on family members for support.

Impact on the family

Coping with a severe, chronic disease such as NP-C is also extremely challenging for parents and family members.¹ The wide ranging symptomatology requires parents to liaise with a number of different medical specialists and treatment regimens, both pharmacological and physical, are often complex to administer. Looking after a family member with NP-C requires a considerable amount of time and energy, which although extremely rewarding, can at times be all-consuming and overwhelming. NP-C can be disruptive and stressful, and inevitably, places restrictions on normal family activities, particularly for siblings. Consequently, it is essential for families to seek help and support. Patient associations (click for further information) provide invaluable access to information as well as counseling services.

References

1. Wraith JE, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.