This section is intended for healthcare professionals outside of the US only. If you are a patient or a carer, please click here for further information.

Impact of Niemann-Pick type C disease

Correct, early diagnosis of Niemann-Pick type C (NP-C) facilitates access to treatment, which may help delay a patient’s progression of neurologic symptoms and improve the patient’s quality of life.1 Despite a range of therapies being available including pharmacological treatments (both symptomatic and NP-C-specific), physical therapy, speech therapy and occupational therapy, NP-C remains a devastating condition that presents considerable challenges for patients and their families.

There is a need for fully coordinated healthcare teams around the family in order to provide a support structure that enables them to achieve the best quality of life for them or their child, both in the early stages of NP-C and as the disease progresses

Impact on the patient


NP-C has a tremendous impact on patients’ quality of life, with detrimental effects on schooling and work.2

·       The progressive nature of the disease means that children may perform poorly at school and may find it difficult joining in with recreational and social activities.

·       For adults, everyday activities, including the ability to work or drive, may be restricted.

·       Those affected may inevitably lose their independence and have to rely on family members for support.

The NP-C Patient and Healthcare Professional Survey showed that the journey to diagnosis of NP-C was lengthy and challenging.3

·       Time to diagnosis is very much influenced by the type of symptoms patients experience and how quickly they are recognized.

·       The average time from onset of noticeable symptoms to diagnosis of the patient among the families interviewed was slightly over five years; however, timescales varied from a few months to 19 years, depending on the rate and recognition of symptom development.

Impact on the family


Coping with a severe, chronic disease such as NP-C is also extremely challenging for parents and family members.3 Parent and carer interviews conducted as part of the NP-C Patient and Healthcare Professional Survey provided insight into the range of strong emotions experienced at the time of diagnosis (see Figure 1).3

·       For some, there is a sense of relief that their child’s illness is no longer a mystery; the stigma of the ‘naughty’ child or ‘pushy’ mother disappears and they can finally access any support or services on offer.

·       For those parents whose child has only shown mild symptoms or where less severe diagnoses have been discussed, the diagnosis of NP-C comes as a complete shock.

·       Diagnosis removes the uncertainty but it is always a huge emotional blow and can lead to feelings of devastation and despair.

·       Feelings of guilt are also common amongst parents and carers, as they express regret over lost time with their child or maybe realize that they may have been disciplining the child unnecessarily or he/she have been made to struggle in mainstream education.

·       Parents may also feel that in some way that they are responsible because it is an inherited disease.

What the families say


Parent, Germany, NP-C patient survey 20103

There were things that we didn’t even notice as parents; for example, he could no longer hold the fork properly or hold his own cup, and whilst others would take note of that, we thought that perhaps he was simply mimicking his baby brother in order to attract attention.


Parent, Spain, NP-C patient survey 20103

…finally the year 3 teacher recommended that we see a specialist so we went to a center and we saw a psychologist. He was diagnosed as a child with learning difficulties. We went to a psychiatrist, the psychiatrist treated him for anxiety, then when we realized that the medication for anxiety was having no effect and if anything he was much less receptive and much slower…

 

Figure 1: Insight from parent and carer interviews into the range of emotions experienced at time of diagnosis3

Figure 1: Insight from parent and carer interviews into the range of emotions experienced at time of diagnosis


The wide ranging symptomatology means that parents have 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.


Resources

NP-C can be disruptive and stressful, and inevitably, places restrictions on normal family activities, particularly for siblings. A number of case studies, available as videos, may help improve understanding of the impact of NP-C and signpost accessible support. Please visit educational resources to view these patient videos and also specialist NP-C Patient and Healthcare Professional Survey reports.
"Think Again, Think NP-C" is a campaign led by the International Niemann-Pick Disease Alliance (INPDA), an alliance of non-profit patient support organizations across the world.

 

 

References

  1. Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012. 106(3):330-344.
  2. Wraith E, Baumgartner M, Bembi B et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Gen Metab 2009;98:152–165.
  3. Klünemann H, Wraith E, Wijburg F. Niemann-Pick Type C Disease – Report on Results from the Niemann-Pick Type C Patient and Healthcare Professional Survey. Eur Neurol Rev 2011;6(1):12–15.