Providing information and support · raising awareness · encouraging research

TERRY AND JOSH COMPLETE SPONSORED CYCLE FROM LAND’S END TO JOHN O’GROATS FOR RTS!

Tristan was diagnosed with RTS in 2009. Tristan’s brother Terry and his friend Josh recently cycled coast to coast from Land’s End, the most southern point in England to John O’Groats, the most northern point in Scotland, covering over 1000 miles in just 16 days.

Tristan’s family have found the support group helpful to them, and Terry and Josh undertook the ride to raise funds for the charity.

Their energetic adventure has raised over £3,400! If you would like to donate, please visit their gofundme page at the button below.

CONGRATULATIONS TERRY AND JOSH!

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.

Information & support

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.

Latest news: Co-funding new research into mental health in RTS with Aston University

We are excited to be joining forces with Aston University to produce new information and create greater understanding about RTS. Part funding of a PhD over a period of three years is a significant financial commitment for the charity – the fundraising target is £25,000 – read more.

Raising a child with a disability

I am often asked 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. It’s like this…

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

©1987 by Emily Perl Kingsley. All rights reserved

Stories

Read about families and individuals living with RTS.