Duncan Smith (Dublin Fingal, Labour) | Oireachtas source

Last week, I met with the Alliance of Rare Diseases Companies Ireland, which made one thing very clear: the current reimbursement system is not fit for purpose. We need a system that is clear, predictable and time-bound, with fixed assessment criteria and, most important, one that facilitates immediate or early access to rare disease therapies.

As the Minister mentioned in his own speech, it is a misnomer to call them “rare diseases”, because they are in fact not that rare, with one in 17 people in the country suffering from a rare disease. I welcome the fact that the Minister is developing an updated plan in relation to rare diseases, but we need urgency and we need to have this plan as soon as possible. The implementation of the national rare disease plan 2014-2018 was poor. There is no reason a new plan cannot be expedited with a focus initially on the recommendations of the original plan, which went unactioned. While a new plan is important and long overdue, we cannot have a situation again where we will have a list of recommendations that go unactioned. I ask the Minister to commit to implementing as many measures as possible within the lifetime of this Government, and not to push the work of this group or indeed its actions into the next Government.

I would also like to thank the Labour Party’s local representative for Skibbereen, Evie Nevin, who suffers from a rare disease. She took the time to share with me some of the difficulties experienced by people like her. She suffers from Ehlers-Danlos syndrome, EDS, an inherited disorder that affects connective tissue. She shared with me the issues she faces. One of the major issues for patients with EDS is a lack of multidisciplinary teams that can provide comprehensive and co-ordinated care. As a result, hundreds of families have resorted to fundraising for treatment in the UK, Spain and the US, collectively spending more than millions of euro to access specialist care and treatment. For example, Evie and her family have had to raise more than €20,000 to see doctors and physiotherapists in London. This is just not good enough. We have much too long a history in this country of exporting people with medical needs to receive care abroad. That should not be the case in any area, and it should not be the case for rare diseases. Evie outlines another challenge faced by patients with rare genetic diseases; while long waiting times are prominent across the health service, they face long waiting times for genetics appointments.

This has serious consequences for those with life-threatening conditions such as vascular EDS, which affects the blood vessels and organs and can cause them to rupture.

I would like to see 29 February, Rare Diseases Day, to be a springboard from which we begin to address the flaws in our system as regards rare diseases. The Minister's announcement of an updated national rare diseases plan is a positive step in the right direction but I think he will acknowledge that there is more that we can be doing. Living with rare diseases can mean a lonely station with little contact with other sufferers and very little helpful information. There is an opportunity for the Minister and his Department, alongside making some firm changes, to run an awareness campaign. The public attitude is one of wanting to know more. We know this from a recent study that showed 30% of people claimed to have an awareness of the term "rare disease" and could correctly identify a condition. Importantly, 69% expressed an interest in learning more about rare diseases. The Minister and his Department should build on this, particularly when 82% of respondents to this survey agreed that these conditions need to be taken more seriously. The alliance of rare diseases has called for the appointment of a designated liaison person within the Department of Health with whom to discuss rare disease policy. The Minister mentioned liaising in his own speech but I would like him to give further strong consideration to the proposal that there be one point of contact at a senior level. It would be remiss of me not acknowledge the Minister's commitment to this issue, which I estimate most sincerely, and indeed the work of Deputy O'Sullivan and Deputy Naughten in this House over the four years I have been here.

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