Stephen Donnelly (Wicklow, Fianna Fail) | Oireachtas source

I will be sharing my time with Deputy Pádraig O'Sullivan.

Rare diseases, as we know, are anything but rare. There are now more than 6,000 known rare diseases. One in 17 people in Ireland has a rare disease, which is 300,000 people. When you include the mums and dads, the brothers and sisters, and the sons and daughters who live with all of those people with a rare disease, it is likely that probably 1 million people in our country either have a rare disease or are living with someone who has a rare disease. To all of those people - the one in 17 with the rare disease, their families, friends and carers - I say that our ambition is to ensure people with rare diseases have rapid access to the best possible healthcare.

We are continuing to put in place and expand screening measures. We are investing in genetic testing. We are putting in place advanced diagnostics. We are continuing to invest in advanced treatments, including new medicines. I have listened very carefully to patients and families who are saying that while the investment and access to the new medicines is essential, much more than that is required. We must have suitable supports in people's homes and in their communities.

As Minister, I have met patients many times, and as recently as last week, for Rare Disease Day. I am very aware that these conditions can often have a severe and devastating impact first and foremost on the person with the disease, but also on their families and loved ones. That is why the Government has made a commitment for an increased focus on rare diseases and the people affected by them, and I will be making sure, as I am sure all of us in the Oireachtas will be, that we do so.

Through the development of a new national rare disease plan, the Government is delivering for patients with a rare disease. This was the task I set when I established the new rare disease policy unit in my Department, which liaises with the rare disease office in the HSE and relevant stakeholders.

In December, we established a rare disease steering group which, I am happy to report, has met four times to date. The group is tasked with developing our new rare disease plan. This sets out the vision for services and how we are going to support patients and families and the actions required to achieve this. I am determined the plan will be progressed, that it will look to the future and that it will put the patient at the centre of everything we do. The voices of patients, families and advocacy groups must be, and have been, central to the development of future policy. This is why I have established a patient forum so that we have a formal mechanism for listening very carefully to ensure the patient voice determines the investment, the direction and the services we put in place. I am very happy to say that the forum, which meets for the second time this week, is going to feed directly into the steering group, the strategy and the implementation plan.

As we all know, screening is an important tool in reducing the impact of rare diseases. I am very happy to say that our national screening advisory committee has already made two recommendations, one on severe combined immunodeficiency, SCID, and one on spinal muscular atrophy, SMA. I wrote to the committee about the prospects for metachromatic leukodystrophy, MLD. I acknowledge the advocacy of Les Martin and others on this. We are making progress but we have more to do on screening and we must set the ambition of being one of the leaders in Europe in screening. We have a way to go in this regard.

New medicines are essential to provide the best possible care for people with rare diseases. Over the lifetime of this Government, we have allocated new development funding of almost €100 million. The full-year cost of that is far in excess of the €100 million. This year, as colleagues will be aware, we have allocated €30 million. I am very happy to be able to share that the money to date, not including the €30 million for this year, has led to the reimbursement decisions and the authorisation of 148 new medicines and new uses. Critically, 39 of those medicines are orphan drugs, specifically for rare diseases.

The Government will continue to work with those who have rare diseases. I acknowledge the strong voices of people like Deputies Naughten, Devlin and Pádraig O'Sullivan and others on this important task.

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