You have found us because you want to find out more about Pitt-Hopkins syndrome in the UK and Ireland. Please do call 0203 239 2123 or email [email protected] with any questions.
You probably know that Pitt-Hopkins syndrome is a very rare syndrome. It can, in fact, be classed as an ultra-rare ultra-orphan disease. This is because Pitt-Hopkins Syndrome only occurs at a rate of about 1 in 225,000 to 300,000. That’s something like 4 cases in a million people!
In September 2013 the members of the Pitt Hopkins UK fundraising group knew of 33 cases of PTHS in the UK. In September 2014 we were in contact with at least 40. At our PTHS UK Day in July ’14, we heard that there were about 200 diagnosed people in the UK. This meant we had contact with about 1 in 5 of all cases already diagnosed in the UK. In June 2015 we had contact with over 60 families. Some of these new families came from the DDD study. In 2020 we have contact with about 100 families in the UK and Ire