Mr. Declan McPhillips:

I am chairperson of the Rett Syndrome Association of Ireland and of the CDKL 5 Association of Ireland. My daughter, Shauna, is profoundly disabled by Rett syndrome. I thank the committee for extending the invitation to us to make a presentation at this meeting. I thank Deputy Caoimhghín Ó Caoláin in particular who nominated us to attend. Deputy Ó Caoláin attended our conference and experienced at first hand the difficulties faced by these families. I 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 the Rett Syndrome Association of Ireland.
The association is a voluntary organisation with nine committee members, all parents of children with Rett syndrome and CDKL 5. It a rare neurological disorder primarily affecting girls and is caused by a random mutation of a gene on the X chromosome. The incidence is one in every 10,000 female births, approximately three per year. In most cases the girls appear normal at birth and continue to develop until a devastating regression takes place, usually between 12 and 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 their needs, day and night, for all their lives. Epilepsy, scoliosis, breathing irregularities and tube feeding are also common features of the condition. There are a total of 21 symptoms. CDKL 5 is a very similar condition with similar symptoms and is often referred to as atypical Rett syndrome. There are three cases of CDKL 5 in Ireland and 74 cases of Rett syndrome in our organisation.
The first major breakthrough came in 1999 when the gene responsible for the condition was discovered. This led to the creation of Rett mice models in laboratories around the world. In 2007, the scientific and medical world was rocked when Rett syndrome became the first neurological disorder to be reversed or cured in mice in a laboratory. This has given great hope not only to families affected by Rett syndrome but also to those affected by other neurological disorders, including autism.
The search for a cure in humans continues and many trials are taking place around the world in efforts to identify existing drugs, in the Children's Hospital in Boston and in Italy, which may relieve some of the many symptoms of the condition. That is why continuous funding for research into rare diseases is critical as a breakthrough can often have knock-on effects for other mainstream conditions.
We carried out a survey of families which included just over half the number of families in the organisation.