Saturday film





Cambridge Rare Disease Network - RAREfest | Film - Pitt Hopkins UK Awareness Day 1

Pitt-Hopkins UK Awareness Day

Synopsis: Our video is made from slides of parents’ profile photos showing their child with Pitt-Hopkins syndrome (PTHS). It is interspersed with slides with some basic facts about PTHS, an ultra-rare syndrome. There are thought to be about 300 diagnosed people in the UK but many undiagnosed or misdiagnosed. Many geneticists have not heard of PTHS let alone seen anyone with the diagnosis so we hope that showing photos of many children and adults will help others to be diagnosed. We made the film for our International Awareness Day.

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