Through intimate self-filmed footage, candid interviews and expert insights, 'Life with CASK' shines a light on CASK gene disorders - a group of ultra-rare neurological diseases caused by mutations in the CASK gene.

The documentary paints a picture of the resilience, courage and unwavering spirit of those touched by these rare conditions. It also reveals the almost impossible situation of rare disease research funding, and aims to be a call to action for more support for rare diseases.

The short film was funded by CASK Research UK, a charitable organisation dedicated to advancing scientific understanding of the CASK gene and its associated disorders. Their primary mission is to provide grants to support researchers studying the intricacies of the CASK gene, forge partnerships with like-minded charitable organizations, and champion cutting-edge scientific research in this specialised field.

WHAT IS CASK?
The CASK gene plays a crucial role in the healthy development of the brain. When mutations occur in this gene, they give rise to a spectrum of disorders collectively referred to as CASK gene disorders. These disorders profoundly impact brain function and can manifest in various ways, including conditions such as MICPCH (Microcephaly with Pontine and Cerebellar Hypoplasia) and X-linked intellectual disability with or without nystagmus.

CAST
With a cast of three parents and two researchers, Life with CASK portrays the differing experiences resulting from a spectrum of phenotypes commonly found associated with a CASK gene mutation.

Giovi is the mother of Angelina and lives in Australia. Along with her husband she runs the Angelina CASK Neurological Research Foundations, in Australia and the USA. Viewers are invited to learn the raw realities of the more hidden aspects of CASK.

Laura is mum to 6 year old Sarah and founded CASK Research UK. She co-founded the CASK Coalition with Giovi and their French partner Thierry. The documentary discusses the benefits of CASK non-profits working together.

Liz is mother to two year old Henry and is a trustee at CASK Research UK. She talks positively about learning to live day to day and making the most of their rare disease life.

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