Introduction to International Rare Disease Day Conference

Introduction to International Rare Disease Day Conference 

On 28 February 2017, Philip Watt in his role as CEO of Cystic Fibrosis Ireland, Chairperson of MRCG and a member of the Rare Disease Taskforce, opened the International Rare Disease Day Conference in the Royal Hospital, Kilmainham, Dublin. Below is his introduction speech from that morning.

 

It is estimated that there are over 6-7,000 rare diseases in existence worldwide affecting 6-8 per cent of the population of Ireland North and South and affecting up to 300,000 children and adults. 

That means that one person in 12 in Ireland may have a rare disease, with 70-80 per cent of rare diseases genetic in origin. 

On behalf of the Rare Disease Taskforce and the Northern Ireland Rare Disease Partnership welcome to the third north/south seminar to celebrate Rare Disease Day. It is very heartening to see the growing support for this important day and I really want to welcome those who have travelled distances to be with us today, especially those that caught the early morning train from Belfast to Dublin. I especially want to welcome the Chairperson of the NI Rare Disease Partnership, Ms Fiona McLoughlin. 

International Rare Disease Day is held annually on Feb. 28th with a mission to educate the general public; to advance research; to improve services and to ensure equality and fairness in accessing new and innovative therapies. 

A rare disease is carefully defined by the European Union as a long-term or a fatal disease that impacts on less than 1 in 2000 people. 

30 or 40 years ago there was little that could be done for most children with rare diseases and many died before being old enough to go to primary school.  

However, thanks to major advances in medical research and better health services, there is increasing hope for many patients that their disease will be diagnosed and an effective treatment will be found, particularly because of advances in genomics and personalised medicines. 

The European Union has to be congratulated for playing a leading role in pushing for urgent action on rare disease. President Obama also made a point of introducing a raft of progressive polices on rare diseases and related research right up to the final days of his Presidency that once again demonstrates the deep humanity of an outstanding political leader. 

There are three key themes running through our proceedings today, the first of these is National Rare Disease Plans. In this context I want to welcome Professor Ian Young who will be giving us an update on the NI Rare Disease Plan this morning. 

Minister for Health Simon Harris is not with us today because of a cabinet meeting but he sends his strong personal support for today’s conference. However, we are delighted that Professor Eileen Treacy will be joining us later to give an update from a European perspective, including Orphanet and European Reference Networks (ERN’s). 

It is great to see the work being undertaken by the National Clinical Programme on Rare Diseases led by Eileen and the on-going work of the National Office for Rare Diseases, two of the most important outcomes from Ireland’s National Rare Disease Plan (NRDP). The interim report from Ireland’s NRDP is now available on the Department of Health website. 

One of the key messages from today is to call on the Irish Government to give greater resources for these two vital initiatives. One small example of the work of Eileen and the NCP is a focus on the better transitioning of young people with rare diseases from a pediatric hospital to an adult hospital. 

The importance of this transition is often overlooked and needs to be carefully and sensitively planned. Above all we need to listen carefully to the voices of those young patients who have experienced this sometimes difficult transition. 

We acknowledge all those who continue to be involved in the rare Disease Taskforce especially those involved directly in the monitoring of the NPRD who are Avril Daly; John McCormack; Tony Heffernan, Derick Mitchell and Philip Watt. 

While there is much to acknowledge in respect of progress, we cannot gloss over the major challenges that face us, some of which we will be addressing in today’s seminar.  

The first of these challenges is access to new and innovative drug therapies. 

There is a worldwide debate on access to and the high cost of new and innovative drugs for those with rare diseases. For the first time drugs are becoming available for rare diseases. 

Some recent examples that have been much in the news in Ireland are:

• Respreeza for patients with Alpha one

• Translarna for patients with Muscular Dystrophy (Duchenne) 

• Orkambi for patients with Cystic Fibrosis. 

• Patients with Cystinosis are also anxious about access to a new drug therapy which needs to go through the Health Technology Assessment Process. 

Some of the questions that are being highlighted in the present debate include: 

• Will drugs for rare diseases get past the present system of assessing drugs in the UK and Ireland or do we have to consider changing the assessment process?

• How can we ensure we are getting good value for money from international pharma companies who are developing new drugs?

• How can we better support research for new drugs in Ireland North and South?

 

The second major challenge for discussion today is support for Clinical Genetic services and Genomics in Ireland

Clinical genetic services are vital for the diagnosis and treatment of those with rare diseases. Investment in genomics today will lead to more breakthroughs or better treatments for those with a rare disease, perhaps even cures. But: 

What can we do in the south to reduce the lengthening waiting lists for those waiting for genetic services in Crumlin Hospital?

As of the end of January, according to the National Treatment Purchase Fund, there were 1,412 patients on out-patient waiting lists for clinical genetic consultants at Our Lady's Children's Hospital Crumlin and Temple Street Children's University Hospital, of which 225 were waiting more than 18 months. 

There are exciting new investments in Genomics in Northern Ireland and by industry in the Republic of Ireland – The potential of these new developments will be the focus of this afternoon’s session. 

 

Then there is the elephant in the room that is Brexit.

• What will be the impact on health in Ireland north and south when the UK leaves the European Union?

• Will those with rare conditions in Ireland still be able to access services in the UK and vice versa, including as part of the treatment purchase scheme?

• Will the UK government pick up the tab for health research that is currently provided by the European Union?

• What will happen to Rare Disease Plans in the UK including Northern Ireland and what will there be a knock on effect for the Republic of Ireland?

• Are the respective governments in Dublin, Belfast and Westminster commissioning any joint research on the impact of Brexit on health? 

 

I hope you will enjoy today’s conference and whether you are from a patient group, pharmaceutical company, health service or if you involved as a researcher or in policy making role. On behalf of the Rare Disease Taskforce, we hope that you come away empowered from today and with a sense that despite all the challenges there is also much hope.