Pitt Hopkins UK

Pitt Hopkins UK raises awareness of Pitt-Hopkins syndrome (PTHS) among health professionals and supports families of both adults and children with PTHS delivering important information and funding future research.  We have been a registered UK charity since May 2016 with nine trustees some of whom have family members with Pitt-Hopkins syndrome.   PTHS is an ultra-rare neurodevelopmental condition which causes delayed motor development and moderate to severe intellectual disability. Children with PTHS tend to be either non-verbal or have a limited vocabulary. In many cases, they may suffer severe constipation while some can have reflux. Many have seizures. Signs of PTHS can include daytime apnoea and hyperbreathing.  Our goal is to raise awareness among health professionals to be able to identify someone with Pitt-Hopkins syndrome as well as to find parents of children dealing with PTHS via our social media. Our fundraising goals are to support and advocate for parents while delivering the latest information to families and encouraging much-needed research about the breathing anomalies and the dysfunctional autonomic system which interfere with the quality of life of those with PTHS. Recommendations for care have been developed under the guidance of Professor Raoul Hennekam in the Netherlands and we share parent-friendly versions of these with parents and doctors on our website, the Google Groups, Facebook groups, Facebook pages, and our free app. We also have a video in English kindly shared by the Dutch Pitt-Hopkins charity.