Neurofibromatosis Type 1


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Neurofibromatosis type 1
Neurofibromatosis type 1: NF1, a genetic disorder characterized by a number of remarkable skin findings including multiple cafe au lait (coffee with milk) spots, multiple benign tumors called neurofibromas on the skin, plexiform neurofibromas (thick and misshapen nerves due to the abnormal growth of cells and tissues that cover the nerve), and freckles in the armpit and groin. The cafe au lait spots increase in number and size with age. Ninety-seven percent of people with NF1 have 6 or more cafe au lait spots by age 20. The skin neurofibromas appear later, usually in the second decade of life. In NF1 there is an increased risk of scoliosis, optic gliomas (benign tumors on the optic nerve), epilepsy, and learning disability. The risk of malignant degeneration of neurofibromas is below 5 percent. NF1 is inherited in an autosomal dominant manner and is due to mutation of the NF1 gene (in chromosome band 17q11) that encodes a protein called neurofibromin. Half of cases are due to new mutations in the NF1 gene. Prenatal testing is available. Also called von Recklinghausen disease.
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Neurofibromatosis is one of the world's most common - neuro genetic conditions
Categorised into NF Type 1 and NF Type 2 the severity of the condition will vary from person to person. Nerve Tumours UK provides support and information, as well as campaigns and raises awareness on behalf of over 26,500 people in the UK who have Neurofibromatosis (NF1 and NF2) and Schwannomatosis. This project looks into the work of the charity and the importance of raising awareness by showcasing the stories of those that are affected.
"Making this film and raising awareness of NF Type 1 and NF Type 2 - specifically capturing the stories of the Burbridge Family and Emily Owen - was incredibly fascinating. Films should always have a strong narrative and being able to share their inspiring stories and their courageous journey through adversity, was both heartwarming and inspirational." Phil K Matthew Film Director
For more information visit our website https://nervetumours.org.uk/
For donations and your support please click here https://nervetumours.org.uk/get-involved/donate
Director
Phil K Mathews
https://www.philkmatthews.com/