Mark Daly (Fianna Fail)

I support the need for proper resourcing and structures to be put in place for those with rare diseases. I welcome the Minister of State to the House. I am sure she is aware of the comprehensive report by the patient support and empowerment sub-group on this issue and chaired by Tony Heffernan, who is well known to me. In the case of cystic fibrosis, one in 20 people in Ireland carry the gene for this disease and this country has one of the highest rates of prevalence in the European Union. There is, however, a gap between what can be done for patients and what is being done in practice.

In many cases this is not about funding but rather to do with the issue of transplantation. A transplant authority has been established but is not fully functioning. There is also the issue of required request and whether every accident and emergency department should have a mechanism and a protocol to make a request of families to consider a donation of organs . This would make a significant difference and could transform more than one life.

I know the Minister is aware of the recommendations of the patient support and empowerment sub-group. These recommendations are practical and some involve a cost but the Minister of State, Deputy Shortall, has encountered people who have these rare disorder and who have suffered stress as a result of a tardy diagnosis or a misdiagnosis, as illustrated by my colleague from Waterford, Deputy Cullinane. It would make sense to establish a national council and office and a portal for dealing with rare diseases council as this would ensure that the families who have personal experience of the inefficiencies in the current services and other families in the future will not suffer as Tony Heffernan and others have suffered.

I am aware that the establishment of a special social support services to ensure delivery of service and a patient-centred and co-ordinated approach at all stages is an issue of protocol and of funding. However, if the protocol is in place, at least when funding becomes available, then health service support staff would have guidelines to follow. It should not be a case of different protocols between hospitals, as this is often the case, when it comes to diagnosis.

I have personal experience of the difficulties experienced by the Heffernan family as a result of delayed diagnosis when it was not discovered why their child was having so many seizures, up to 20 in a given day. They attended the neurological services in Dublin and in Tralee but they experienced a delay in diagnosis. Once the correct diagnosis is made, the pathways to treatment and care and the access to medicines are clear. My colleagues have referred to the issue of warfarin and the information centres and what needs to be done in this regard.

I know the Minister of State is aware the issue is one of funding as much as anything else.

We can develop and take best practice from European countries that have already set up offices for rare disease. We do not have to reinvent the wheel but can see what was done elsewhere, for example, having a national register of rare diseases, in the way they are diagnosed, described and prioritised in other European countries. Some diseases have different names in different countries, as in the case of one of the more famous of them, Lou Gehrig's disease.

There must be implementation of a national plan and the Minister of State has the recommendations and the report. While I was watching the debate on the monitors, I was glad to hear the Minister, Deputy Reilly, state he was taking the issue seriously and would try to put the available resources towards it. Although the diseases are rare, many families are affected, including not only actual family members but all the loved ones around who try to support them. It is not only the situation of not knowing, after the diagnosis is made, which is a trauma in itself, but there is also the sense of loss, finding out where to go within the structures of Government and learning how to find other families affected. That is why support groups set up by families who have gone through the system are invaluable. We owe an enormous debt to all those who have continued on with this work, in spite of the loss of loved ones to the disease. They continue in memory of those they have lost and to try to help others in the same situation.

I thank the Minister of State for attending this debate and look forward to hearing her response to this most valuable document.