What it is like to live with a rare disease?
99% of genetic conditions are classed as rare, meaning they affect fewer than 1 in 2,000 people. Currently, there are over 6,000 known rare diseases, and thanks to advances in genome sequencing new ones are being identified and described on a regular basis. Collectively, rare diseases are not so rare. It is estimated that one in 17 people in the UK will be affected by a rare disease at some point in their life. Individually, however, they can raise unique challenges for patients and families.
People with rare diseases and their families with rare diseases are one of the largest groups of patients and research participants for whom genome sequencing can have immediate clinical implications. Understanding their experiences is crucial to maximise the benefits of genomic research. n initial
The rare disease community and the charities that advocate and support them have always worked in partnership with scientists, health professionals and policy makers to improve the lives of patients and families touched by rare disease. Collectively they have developed and hosted joint conferences, and provided educational activities; such as the European Conference on Rare Diseases. This year will see participation from Christine Patch and Alessia Costa from the Wellcome Genome Campus Society and Ethics Research.
Ahead of the upcoming Rare Disease Day on 29 February 2020, Rare Diseases UK has been hosting the UK’s first ever film festival to help raise awareness on the experience of living with a rare disease.
The short-listed films beautifully demonstrate the power of film and creative story-telling to convey the experience of living with a rare disease. From using animation to represent how people see with a visual impairment, to taking viewers on a climbing adventure showing how it feels for people with movement disorders to calibrate each move they make, the films help us to experience the world from the perspective of people with rare diseases.
The films have effectively broken the silence and isolation that often surround rare diseases, by showing us the struggles experienced by patients and their families, as well as highlighting their hopes and achievements.The award-winning film shows the emotional wrecking that rare diseases can inflict on a family, their journey towards acceptance and the importance of living life to its fullest – something we can all learn from people living with rare diseases.
Written by – Alessia Costa (Postdoctoral Fellow), Wellcome Genome Campus Society and Ethics Research.