At the moment most of the families with Pitt-Hopkins syndrome are quite spread out around the UK but some of us have been able to meet up at least once a year since 2008. In September 2011, we had our first Pitt Hopkins UK Family Day with Professor Raoul Hennekam speaking to us about the latest known about Pitt-Hopkins syndrome. We had a wonderful time and we hope to do this again one day. Meanwhile, we get together when we can for Pitt Hopkins UK get togethers which has usually been once in the summer and some time around Christmas. We mainly support one another via email, the UK Facebook support group and some phone calls. Many families are also part of the International English speaking support groups.
UPDATE 2020 We had a get together in January 2020 before the pandemic but sadly we do not know when we will be able to meet again in person. Even if larger gatherings were allowed with many of our children being at higher risk it would not be fair to have a gathering for the forseeable future. Meanwhile we are having regular Zoom Coffee mornings and will continue to have these. If anyone would like to chat but doesn’t feel ready for a Zoom call please do call our Pitt Hopkins UK number 0203 239 2123
The following article was written at the request of a genetic testing centre in the States describing how our international support group began. In the 8 years since it was written, we have almost trebled in size to over 600 members. We have also been joined by families from Bolivia, Hungary, Mexico, Japan, Portugal, Pakistan and Kuwait.
When parents realize that their baby is not developing as they expected they want to know how to help them but they also want to know why their child is different. When a child has, in fact, a very rare condition it makes it very hard to find this out, especially when there is no blood test available. This was the case with Pitt-Hopkins Syndrome (PTHS) until July 2007 when researchers discovered the responsible gene and developed diagnostic tests. Since then if a child is found to have a mutated or deleted TCF4 gene on chromosome 18q they are diagnosed with Pitt Hopkins Syndrome.
In October 2007, our family in Europe got a phone call from our geneticist telling us our son of nearly 16 years old had a diagnosis. As he was part of a research project we did not even know he was being tested. Completely out of the blue we discovered he had Pitt-Hopkins syndrome and we did not know anything about it – even the name was a mouthful! We were told there were probably less than 60 confirmed cases worldwide. We managed to access a few research papers but everything was in pure scientific language and sounded very negative. We wanted to talk to other parents but could not find anyone else with the diagnosis. We searched through rare syndrome groups but no one had any information and it was suggested we start a support group! That’s a good idea if you know someone else with a child with Pitt-Hopkins. It was so frustrating to have a diagnosis after so many years but not to know anyone else! “Contact a Family,” a UK-based charity, suggested we put a message on the Making Contact and NORD (National Organization for Rare Disorders) sites in the US.
Two days after we posted a message on NORD we heard from a family in the States whose 16-month-old daughter was diagnosed just 5 days earlier. We wrote back and forth and discussed starting an online support group at such time as we found another family. We heard from no one else until the following March when two mothers from the States contacted us on NORD.
All the families were interested in the idea of setting up an Internet support group. On April 13, 2008, the Pitt Hopkins Syndrome Google Group Support group was created by Theresa and Paul, from North Carolina (parents of Victor), and us, Sue and Brian, from London but presently living in the Netherlands (parents of Christopher). That first week there were 4 members. A year later we had about 30 members. Now almost 4 years later we have over 160 members, with a new family joining every couple of weeks on average. As of March 2012, we have families from the US, Canada, the Netherlands, the UK, Ireland, Germany, France, Italy, Spain, Portugal, Switzerland, Austria, Denmark, Belgium, Sweden, Norway, Cyprus, Brazil, Australia, and New Zealand.
Theresa and Sue are the Pitt-Hopkins Syndrome Google Support Group managers. This group is a place to find support and parent information about PTHS. It has been created to bring together the ideas, thoughts, and hopes of people caring for loved ones with Pitt-Hopkins syndrome.
To join this support group please follow the link:
There is also now a google support group for the UK and Ireland. This group is for parents, family members and carers of children and adults with Pitt-Hopkins and Pitt-Hopkins -like syndromes living in the UK and Eire. Other families are, of course, welcome but it is a place to share mainly items pertaining to the UK and Ireland. We will, of course also share about our children and help one another and new families joining learn more about Pitt-Hopkins syndrome. Parents who have a child waiting for a diagnosis are also welcome.
Pitt Hopkins UK Google Support Group