David Cullinane (Sinn Fein)

Cuirim fáilte roimh an tAire Stáit go dtí an Teach. I also welcome the guests in the Visitors Gallery and thank the Fine Gael Party for tabling this motion. Members may be aware that the International Day for Rare Diseases occurred last week. A number of very good presentations were made to the Joint Committee on Health and Children.

I was struck by a number of the comments and the number of presentations. Avril Daly was in the Visitors Gallery and she represents the national task force on rare diseases, Towards 2013. She said that a person diagnosed is often regarded as the fortunate one because of the diagnostic journey which many people find themselves involved in with problems of misdiagnosis. This is very telling. When a person is diagnosed with a rare condition, the impact on the entire family is enormous. It is important when considering putting in place a national centre for rare diseases, with access to information and looking at pathways to health care and access to services, that the patient is put at the centre of the process. We also need to be cognisant of the needs of the family and the supports they will need and the issues that will arise for family members, especially when the patient is a young child.

It is harrowing to listen to the experience of some family members when a young child has a rare disease and they have to overcome many problems and battles. I will give the House a number of examples as these can tell the story better than I can. These examples were provided by Andrew Kehoe from Rett Syndrome Ireland. Rett syndrome is a rare neuro-development disorder which affects primarily females. I will give the House an indication of some of the problems which are experienced by young females with this disorder as described by Andrew Kehoe.

The length of time it can take to get the first appointment with a neurologist when initial signs of aggression appear can be anything from six to 12 months. Also, the gap between appointments afterwards is too long and this prolongs the length of time it takes to get a correct diagnosis. This process can take years and it can be a very traumatic experience for the whole family. Without a firm diagnosis a child cannot access vital services. At diagnosis stage, many families are given little or no information.

Accessing appropriate and adequate services from the HSE becomes a constant battle for all families, to some extent, but can vary depending on the geographical location. Accessing appropriate school placements and SNA allocations from the Department of Education and Skills is a constant struggle for families qualifying for the domiciliary carer's allowance and medical cards. One of the issues raised was that some people with a rare disease must have their medical cards renewed every year. Surely this rule should be examined and the medical card should be issued for life. They should not be forced to reapply year after year with all the attendant problems in the national centre. This issue could be addressed very promptly. Respite services are completely inadequate and in many cases, not available at all. Facilities in hospitals are inadequate to cater for the needs of disabled people with regard to lifting hoists, shared tables and changing areas and waiting times for critical operations. There is a lack of service provision for girls once they reach 18 years and school-leaving age and many stay at home full-time until their parents or families can no longer look after them. There is no independent inspection or regulation of service-providers to the intellectually disabled.

These are not my points but rather this information comes from a person who advocates on behalf of parents. I fully support the call to establish a national centre which would oversee access to information and which would provide information to GPs. Senator Crown made the point at the meeting of the Joint Committee on Health and Children that in more global terms there should be a European centre and also a national centre. We also need a national plan to deal with all those issues such as barriers and struggles faced by families in the past. I refer in particular to the diagnostic journey and also access to services. These should not be problems to be overcome or encountered in the future.

This all comes back to the question of resources. One of the questions asked by a delegate at the Joint Committee on Health and Children was why Ireland has not ratified the UN Convention on the Rights of Persons with Disabilities which Ireland signed in 2007. I am not in a position to answer that question but perhaps the Minister of State can supply a response. I stress the importance of ratifying this convention.

I welcome the motion and that this issue was discussed at the joint committee. However, the focus and spotlight must be kept on this issue so to ensure that the steering group comes up with the right solutions. We do not want to be back here in two or four years or five years with advocate organisations still giving personal testimonies of what it is like for them and the families and patients. It is bad enough that a person is diagnosed with a rare disease without having to deal with all those problems which present because he or she cannot gain access to the required services.

It is vital that these services are accessible and the best way to ensure this happens is to have a national plan which will identify the needs and which is properly resourced. I hope the Government and the Minister of State will implement such a plan. I welcome the comments of the Minister, Deputy Reilly and I acknowledge his presence during this debate which sends out an important message. He said he would take this issue seriously and that the Government will act on this issue. I hope it will do so. The House should give the Minister our full support, across all parties and none, on this issue because of its importance.