Presentation to Dail Committee for Health & Children 27 February 2014
Venue : Leinster House
Speaker : Declan McPhillips – Chairperson of Rett Syndrome & CDKL5 Association Ireland
Introduction and thanks :
My name is Decaln McPhillips and I am Chairperson of R.S.A.I. and my daughter Shauna is
profoundly disabled by Rett Syndrome.
Firstly I would like to thank the Committee for extending the invitation to us to present at this
meeting and in particular to Caoimhghin O’Caoilain who nominated us.
I would also like to take this opportunity to thank everyone from both houses of the Oireachtas
and from the Northern Ireland Assembly who took part in the Mourne Mountains Charity Walk
last year , the proceeds of which were very kindly donated to R.S.A.I.
Introduction to Rett Syndrome & CDKL5
Rett Syndrome is a rare neurological disorder primarily affecting girls and is caused by a random
mutation of a gene on the X Chromosome.
The incidence is 1 in every 10,00 female births approximately. ( i.e. 3 new case per year approx.)
In most cases the girls appear normal at birth and continue to develop until a devastating
regression takes place usually between 12-18 months leaving the girls with a multiple range of
profound physical and intellectual disabilities.
Most are unable to walk , talk or use their hands resulting in total dependency for all of their
needs 24/7 for all of their lives .
Epilepsy , Scoliosis , breathing irregularities and tube feeding are also common features of the
condition.
CDKL5 is a very similar condition with similar symptoms and is often referred to as Atypical Rett.
Research
The first major breakthrough came in 1999 when the gene responsible for the condition was
discovered.
This led to the creation of “Rett mice” in laboratories around the world to enable further
research.
Then in 2007 the scientific/medical world was rocked when Rett Syndrome became the first
neurological disorder to be reversed/cured in a laboratory which has given great hope not only to
families affected by Rett Syndrome but also those affected by other neurological disorders
including Autism.
The search for a cure in humans continues , but along side this there are also many trials taking
place around the world trying to identify existing drugs ( e.g. IGF-1) which may relieve some of the
many symptoms of the condition.
That is why continuous funding for research in to rare diseases is critical as a breakthrough can
often have knock on effects for other mainstream conditions also.
Other difficulties faced by families
The overall effect of budget cuts to services and allowances , medical cards , respite grant , phone
& heating allownces etc.