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Family stories

Here you can watch films of NP-C patients and their families talk about their experiences of living with NP-C.

The journey to diagnosis and treatment can be lengthy and challenging due to the wide variation in the type and timing of symptoms of NP-C. Some patients and their families have kindly shared their experiences including how they cope and find solutions to everyday challenges.

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 twenty-three year old who showed no symptoms of NP-C until he reached fourteen years 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 realized something was wrong. Adam works part time and continues to remain as independent as possible.

Calum's Story

Calum was diagnosed with NP-C almost two years after birth, even though symptoms were first noticed at three weeks old. Calum's mother shares her experience of having her son diagnosed with NP-C and how the family coped with Calum's disease. Clinical Nurse Specialist Jackie Imrie explains the symptoms of NP-C and what can help families like Calum's.

The Poincilit Family

Hanny and Christoph Poincilit have three children, Mathias, Alix and Zita. In this film they 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 realized 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.