My name is Jack and I am 3 years old.  I was born with a very
rare (1 in 120.000) genetic condition, Rubinstein-Taybi Syndrome(RTS).

RTS affects my development in many ways, meaning I have lots of input from various health professionals such as physiotherapist, speech and language, occupational therapist, hospital and community paediatricians, although the rarity of it means that most of them know little or nothing about the condition. My mummy and daddy make every effort to learn as much as possible to help guide them.

Having RTS in no way defines who I am. I am non-verbal, although I hope that one day I will be able to say a few words. I am able to communicate by using Makaton signing, and other communication methods to help express what I need or want.

I love going to my pre-school nursery, where I get lots of help and support to learn new skills.

I have global developmental delay, although this doesn’t stop me from trying new things. I am constantly surprising & delighting my mummy and daddy with some new found skills.

As with many 'syndromes' there is a wide scale on which those with RTS are placed. I am thankfully on the lower end, having fewer health issues, but many of those diagnosed with RTS are affected by more serious health problems, such as severe cardiac and other major organ difficulties. Some have multiple hospital visits, often for surgery. Most, including myself, have regular appointments to monitor growth and feeding, yearly eye and hearing evaluations, respiratory assessments and evaluation for cardiac, dental, and renal abnormalities. I suffer with severe constipation, reflux and vomiting, re-current chest infections, breathing difficulties, poor weight gain to name but a few.  

The RTS UK group has been an invaluable lifeline for us as a family, providing us with information and connecting us with other RTS families to share experiences and friendship, some of whom we have meet whilst attending the annual RTS Conferences. Their twice yearly newsletter ensures that families are kept up to date with current information, events, information and news from other families etc. All of this is financed by voluntary donations and fundraising.

All funds raised during the Church 'Big Fun Day Out' will go directly to the RTS UK support group to help them continue the invaluable support they are giving to families like ours.