UK RTS Support Group Conference on 9th June 2018

Maria and Raoul Hennekam in June 2018

We've just returned from a really wonderful RTS one-day conference in the UK by the RTS Support Group. It was very well attended and included presentations by leading academic doctors, medical doctors and lawyers. Chris Oliver, Jane Waite and Hayley Crawford offered fascinating and  informative presentations on the clinical (behavioural) psychology of RTS. Adam Shaw spoke of the many medical complications of RTS and Raoul Hennekam summarised the genetics of RTS and gave some exciting news about a Fragile X trial starting in June 2018. What's this got to do with RTS? Let me explain ...

The CREB protein is used to help gene transcription and expression in the human body. RTS people have a genetic defect that prevents the CREB protein from being manufactured is sufficient quantities. You probably know that already.

In 2003 a paper was published claiming that an inhibitor of phosphodiesterase 4 (PDE4) called rolipram helped to cure mice with Rubinstein-Taybi Syndrome (RTS). They suggested this drug could be used to treat RTS people. The medical community was sceptical until another paper, published in 2017, made a similar claim for mice with Fragile-X Syndrome (FXS) using PDE4D (a type of PDE4 inhibitor) called BPN14770. In both cases, the amount of an important signalling molecule called cAMP is regulated by these inhibitors, which in turn regulates the amount of the CREB protein produced and hence gene expression in the body.

So, in short, we have a way to compensate for the lack of CREB protein produced and if the trial for FXS is successful then it might be used to help people with RTS.

Raoul was excited by this new development, which could help RTS patients in several areas of mental processing and behaviour. However, he warned that those parts of the brain that are physically underdeveloped may not benefit from such treatment. We wait with bated breath!

Other speakers included Gavin Pride-Williams on wills, trusts, probate and tax planning. Laxmi Patel spoke about Education, Health and Care (EHC) Plans, which, unfortunately, didn't apply to families like us living in Wales. Wales still uses the old SEN Statement. But after hearing what Laxmi said about EHC Plans, there didn't seem to be much difference between these and the old SEN Statements.

Elizabeth Perry gave an thought-provoking presentation on the legal aspects of caring for an RTS person. This included a look at community care law and mental capacity, which related to my concerns about what happens if Maria wants further education or to get married.

In the evening we had dinner. Following desert, Jane Waite and Hayley Crawford showed us a new RTS video they had just launched on the FIND website. The evening ended with a disco, games and other activities. In short, we had a great time and I met many new RTS families.

If only every country could have this kind of wonderful RTS support. My hope is that those visitors from other countries who attend our events are inspired to form their own RTS support groups.

POSTSCRIPT AND WARNING: please note that rolipram is poisonous to humans.