You probably know that Pitt-Hopkins syndrome is a very rare syndrome. It can, in fact, be classed as an ultra-orphan disease. This is because Pitt-Hopkins Syndrome only occurs at a rate of about 1 in 200,000 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 August 2018 we have contact with about 80 to 90 families in the UK and Ireland and it is estimated there are 300 families diagnosed in the UK. We know there are many more families out there both diagnosed and undiagnosed. We hope to find them. If you are one of them please contact us.
The families in Pitt Hopkins UK met through the International Google online Support group started by two parents, one from the US in North Carolina and one British from London (presently living in the Netherlands)
We continue to find each other through the Google Group, Facebook, RareConnect and the International and UK websites.
We are a relatively small group of parents in the world but we are getting larger. There are now individual online support groups in Dutch, Italian, Swedish, Spanish, French and Portuguese and for families in Australia and New Zealand, Canada and the UK. The biggest groups remain the international Google support group and parents’ Facebook groups. There are many in the group whose first language is not English. The RareConnect group connects families in English, French, Italian, Spanish, Portuguese, Russian and Serbo-Croatian.
We are all learning about Pitt-Hopkins syndrome together!
Between 1978, when the first people with Pitt-Hopkins Syndrome were diagnosed and 2007 when the blood test was developed, only 7 cases were clinically diagnosed. Almost 10 years later in 2017 we know of or have contact with, well over 700 families around the world but it is impossible to know how many other diagnosed people there are and also, of course, how many yet to be diagnosed! However, it is estimated that there are at least 1500 diagnosed cases in Europe alone. We hope with all our efforts to raise awareness of Pitt-Hopkins syndrome that we will find many more soon.
In May 2016, Pitt Hopkins UK, as we are now known, became a registered charity with the Charity Commission (no. 1167153). Pitt Hopkins UK aims to raise awareness of Pitt-Hopkins Syndrome, particularly among the health professionals, to support and advocate for families while delivering the latest information about Pitt-Hopkins syndrome. Pitt Hopkins UK also hopes to be able to fund some research one day particularly into the breathing anomalies that many of the children and adults exhibit and into the dysfunctional autonomic system that affects many of the children in different ways.