Today, 18 September, is Pitt Hopkins awareness day. Pitt Hopkins Syndrome (PTHS) is a neurodevelopmental syndrome which currently affects approximately 350 people worldwide and affects a specific gene in chromosome 18, called TCF4.
Marang Sealey who has been studying at Grantham College since 2011 is currently on the Promoting Independence course. The course aims to enable young people and adults to develop essential personal, social and practical skills as well as increasing self-esteem, confidence and independence.
Marang along with other students on a variety of First Level Learning courses was tasked last week with making badges to promote PTHS to hand out to students which would accompany a display course leader Louise Cooper had put together.
Louise said ‘I wanted to increase awareness of the syndrome as it is so rare, with only 350 cases known worldwide. Giving out smiley badges seemed an ideal way to get people talking! Since coming to Grantham College, Marang has become much more aware of what is going on around him, and displays interest in what others are doing. He has taken part in many activities, many in conjunction with mainstream students, such as sports, bowling, arts, and crafts, as well as experiencing many life skills such as cooking, cleaning, and shopping.’
Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanour with frequent smiling and laughter although most cannot talk and some are confined to wheelchairs, dependent on others for everything. Many also suffer from seizures, hyperventilation, visual impairment, sensory issues and various gastrointestinal difficulties. The Pitt Hopkins Foundation is committed to accelerating progress toward effective treatments and ultimately a cure for PTHS, by directly funding the most promising research.