Early diagnosis means patients can access treatment and support.

Living with NP-C

Niemann-Pick type C disease (NP-C) can a have a huge detrimental impact on the whole family. This is made worse by the long journey to diagnosis that many patients face.1 The average delay in diagnosis is five to six years from onset of neurological symptoms and this can be extremely frustrating for patients and their families.2

Early diagnosis means patients can access support, which can improve their quality of life and the lives of those around them.3 Early diagnosis is also important as NP-C is a treatable disease. Treatment can help to manage the symptoms and can slow down the progression of the disease.3 Therefore, it is critical that we aim to achieve earlier diagnosis of NP-C.

Some patients and their families have kindly shared their experiences of their journey to diagnosis, what a diagnosis meant for them, everyday challenges they face living with NP-C and how they find solutions to help overcome these.

 

Hollie and Annie's stories

Hollie is a bright and bubbly four year old girl living with NP-C. In the film, her mother Helen talks about the difficulties experienced in gaining a diagnosis of NP-C for Hollie. She highlights how invaluable support has been to help the family come to terms with Hollie’s illness and how important it will continue to be as they look towards the future.

Annie is a vibrant and creative fourteen year old girl. Her mother Kait tells us about her experience of caring for her daughter. She discusses the neurological symptoms of NP-C that the family has to cope with on a daily basis and how adaptations are a constant feature of family, home and school life as Annie’s symptoms progress.

 

Adam's story

Adam is a positive and active 23 year old who showed no symptoms of NP-C until he reached 14 years old when his speech became slightly slurred and his friends started calling him ‘drunk’.

After a long period of assessment he finally received a diagnosis, three years after his doctor first realised something was wrong. Adam works part time and continues to remain as independent as possible.

The Poincilit family story

Hanny and Christoph Poincilit have three children, Mathias, Alix and Zita, who have all been diagnosed with NP-C.

In this film, Living with NP-C, Hanny and Christoph describe the different symptoms that each of their children experienced as they were growing up; Mathias had learning difficulties and frequent falls which continued to worsen, Alix initially suffered hearing loss and then severe bouts of depression and Zita had some hearing and vision loss. After seeing numerous specialists but with no diagnosis, it was not until Alix saw a neurologist, aged 27, that she was eventually diagnosed with NP-C. It was at this time that Hanny and Christoph realised that Mathias, aged 30, and Zita, aged 22, also had NP-C and they talk about how this felt and the impact on their family.

References

  1. 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.
  2. Mengel E, Klünemann H, Lourenço C, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 2013; 8:166.
  3. Patterson M, Hendriksz, 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):330-44.

 

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