Mr. Philip Watt:

Mr. McPhillips has probably said in more words and emotion than I might say. I will focus on two key areas. The first will give a brief description of the approach that we have adopted towards promoting the issues and challenges of rare diseases. The second will outline some of the reasons we need an effective national plan on rare diseases.

The rare diseases task force brings together three networks, including the Genetic and Rare Disorders Organisation, GRDO. I acknowledge the presence of its chairperson, Ms Avril Daly. The other networks are the Irish Platform for Patient Organisations, Science and Industry, IPPOSI - I acknowledge the presence of my colleague, Ms Eibhlin Mulroe - and the MRCG. We bring together a wide range of patient groups that are concerned with rare diseases, which I have listed in our submission for the benefit of committee members.

Mr. McPhillips has set out why we need an effective plan. I will highlight two further conditions that would benefit from an effective national plan on rare diseases. Emma is 28 years old and has epidermolysis bullosa, EB, which means her skin is fragile, delicate and easily damaged. Like most rare diseases, it is a genetic condition and affects approximately 300 people in Ireland. If someone with EB knocks or rubs his or her skin, it causes the skin to blister and come off. Emma requires high doses of pain relief, including morphine. However, she states: "I never let it get me down. Research into better treatments and cures for EB is happening worldwide. It is important to have an organisation [DEBRA Ireland is the name of that patient organisation] that fights on your behalf".

I will provide another brief example. Ciara is in her mid-20s and has Huntington's disease, which is an inherited neurological disorder. Each child of an affected adult has a 50:50 chance of inheriting the disorder. There are more than 500 sufferers in Ireland. It begins with involuntary movements and balance problems, progressively impacts on organisation and perception skills and can involve mood and personality changes. The impact is not just on health, including mental health, but on employment and relationships. Ciara states: "It sent a shockwave through my family as we found out we are all at risk. We knew so little about the disease".

There are significant problems with the health system as it relates to rare diseases. We have heard eloquent testimony from everyone present. There are lengthy delays in diagnosis or, in some cases, there are misdiagnoses, thus delaying treatment or seeing the wrong treatment provided. Parents and patients have difficulty in accessing accurate information and support. When a parent is told that his or her child may have a particular disease, naturally the parent's first action is to try to Google it. Often, this creates much fear, misinformation and concern. We need a national office from which accurate information can be provided and that parents know to contact directly.

In terms of cystic fibrosis, the greatest improvement has been the development of specialised centres with multidisciplinary teams. However, major gaps and weaknesses exist in the treatment of people with rare diseases. We have heard of some today.

Additional challenges are posed by rare diseases. Frequently, research into the development of new therapies and drugs carries a very high cost. Development itself costs a great deal, but there is also less return on that investment for the pharmaceutical companies. There is a considerable risk in investing large sums of money without knowing whether a particular therapy will be successful. There is a lack of understanding among the media and the general public as to why drugs for rare diseases - orphan drugs, as they are called - are more expensive. More information needs to be provided to ensure that people understand why this is the case.

There is also insufficient funding of basic health research in Ireland. There is a slight concern that we are moving more towards applied research, that is, research that simply informs services. We need to continue investing in basic research and finding cures. I say this carefully because, in some cases, cures or near-to-cures are being found for some rare diseases. This is a great beacon of hope - with further investment in basic research, more cures or at least the alleviation of the conditions of those with rare diseases will come about.

What is frequently glossed over or misunderstood is the need for greater support and recognition for patient groups. While I am involved in Cystic Fibrosis Ireland, which is relatively well resourced, many patient groups are basically composed of two, three or four people, for example, parents, who are doing all of the work on a voluntary basis. They need support. The GRDO is the organisation that provides that support, although it has few resources to do so.

As part of the national plan we need to ensure that there is effective support for patient groups and those who support patient groups.

We need an effective national plan for rare diseases. The key part of the process is the national office. I pay tribute to John Devlin, the deputy chief medical officer, who has been most inclusive in the development of the rare diseases plan. We look forward to the implementation of the plan and the appointment of Professor Eileen Tracey to oversee the national clinical programme. We need effective access to diagnoses, specialised centres, specialised support for registries and databases and a one-stop-shop for information and advice. Moreover, we need to ensure that drugs and new therapies for rare diseases are not discriminated against purely on the basis of cost. There is a need for greater transnational co-operation between Ireland, North and South, and between Ireland and the United Kingdom in terms of the treatment of diseases.