Providing information and support · raising awareness · encouraging research
Rubinstein-Taybi Syndrome (RTS) is an extremely rare genetic condition, occurring in around one case per 125,000 live births.
RTS was identified in 1963 by Jack Herbert Rubinstein and Hooshang Taybi.
The condition is often but not always characterised by typical facial features, microcephaly (small head circumference), broad thumbs and first toes, intellectual disability, and postnatal growth delay. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.
The syndrome may be caused by a mutation in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown. RTS is a lifelong condition which affects individuals in different ways and to varying degrees of severity.
The Rubinstein-Taybi Syndrome Support Group is a registered charity with a committee of elected Directors who all have a direct link with RTS.
They ensure that the charity is run legally, responsibly, safely and with the interests of people living with RTS at its heart.
Have you recently received a diagnosis of RTS for a child or relative?
We understand this can be a challenging time. It can help to reach out to others who understand what you are going through. The RTS Support Group is here to help.
The charity connects RTS families to create a support network and provide a sense of community for people who may be facing similar challenges and can relate to each others’ situations.
You may be looking for useful and relevant information about the syndrome, and what life can be like for individuals with RTS and their families. On the Info Bank page you’ll find comprehensive information about many aspects of RTS.
Register and we’ll keep you up to date with support group activities and events.
Raising a child with a disability
It is sometimes hard to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. We love this poem which so effectively helps to convey some of the feelings and reactions RTS parents may have experienced themselves at times along their RTS journey.
Welcome to Holland by Emily Perl Kingsley
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The Gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very, very significant loss.
But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.
©Emily Perl Kingsley. All rights reserved