For families with Rubinstein-Taybi Syndrome.
You are not alone.
Your central hub for community, guidance and lifelong support.
About the Condition
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.
About RTS Support Group
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.
Supporting families.
The map indicates the locations of RTS families who have expressed an interest in meeting other RTS families living within their area. The map does not display any personal information, only the town where the family is located.
What our families say
Research and Impact.
The RTS Support Group are co-funding a PhD student with Aston university to carry out research into mental health in RTS.
Meet our Team
Our team have skills, knowledge and experience
On the management committee, we have many collective years of experience of parenting children and young people with RTS up to and into adulthood.
-
Jo Mullins
Jo is the RTS Support Group Chairperson, marketing and sustainability professional.
-
Abbas Meghjee
Abbas is the RTS Support Group Treasurer and financial analyst.
-
Rosie Ingham
Rosie works on RTS events, communications and supporting fundraising.
-
Ann George
Ann is RTS Support Group Administrator.
-
Zohra Lakha
Zohra works across charity communications and supporting fundraising.
-
Elisa Bach
Elisa focuses on RTS information gathering and providing family support.
-
Danielle Mclnerney
Danielle is a driving force behind the RTS Family Network and the charity’s social media.
-
Julian Smith
Julian leads the charity’s fundraising.