Ms Anne Lawlor:

On behalf of the Genetic and Rare Disorders Organisation, the national alliance for people affected by rare diseases in Ireland, I thank the committee for giving us the opportunity to make a presentation to it on the occasion of International Rare Diseases Day 2014. My name is Anne Lawlor and I am the only employee of the Genetic and Rare Disorders Organisation. I work 15 hours a week to facilitate queries and provide signposts to organisations and individuals that can assist the many callers with existing rare conditions or those who are newly diagnosed and who do not know where to turn. I am also a patient representative. I am the parent of a young woman who is affected by a rare condition, 22q11 deletion syndrome. This is a chromosomal deletion syndrome and I helped to co-found the support group relating to it some seven years ago. At that time, there was no information or support available to me. I hope to provide the committee with a background on the issue of rare diseases, particularly in the context of the impact of such diseases on families and the work that has been done in the past couple of years to improve the situation.

A rare disease is defined by the EU as a condition that affects fewer than five in 10,000 people or 0.05% of the population. Although precise data on rare disease prevalence have not been collected in Ireland, the Department of Health recognises that between 6% and 8% of the population could be affected by a rare condition. This is based on estimates by the European Union Committee of Experts on Rare Diseases, EUCERD. Approximately 80% of rare diseases are genetic in origin and most are life threatening or associated with significant disability, including intellectual disability. Between 50% and 75% of rare conditions affect children and it is estimated that 30% of these children die before the age of five. It is accepted that there may be a higher prevalence of rare diseases in Ireland due to our history of being a small island nation with a greater degree of genetic interaction. Taking a percentile of 6% to 8% into account, alongside the figures from the 2011 census, as many as 350,000 citizens of Ireland could be affected by a rare condition during their lifetimes. This would represent by far the largest patient constituency in the country. However, rare diseases are largely ignored and misunderstood. According to the European database on rare diseases, Orphanet, approximately five new conditions are described each week. This is due, in part, to new technology which can identify rare conditions.

With up to 8,000 rare diseases described, the impact is wide and varied. Some people are affected by conditions which are life limiting and for which there is no treatment. Others are diagnosed as infants with a condition that they will grow up with but not out of. Children and young adults are diagnosed with conditions that are complex in nature and associated with physical, sensory, intellectual, social, emotional and genetic consequences. Some of them also develop mental health problems. When a person is diagnosed with a rare condition, the impact on the entire family is enormous. A diagnosis often goes beyond the immediate symptoms experienced by the person affected and can have effects on the family unit. This is particularly true in the case of rare diseases due to the high genetic risk of the condition. In many cases a diagnosis leads to the development of financial and psychological issues. Many rare diseases require multidisciplinary approaches involving a range of services at each stage of the affected person's life.

Due to their complexity, rare conditions can be difficult to manage and those affected can encounter enormous difficulties in finding adequate treatment. People with rare conditions are often unable to participate in work or education or else their ability to do so is quite limited. Learning disabilities can add to their difficulties with education. For a significant proportion whose condition does not affect their ability to participate, however, it is the lack of support which excludes them from education and employment opportunities. This is a critical issue for members of Genetic and Rare Disorders Organisation. It is also acknowledged that many restrictions and difficulties are encountered with regard to the provision of many types of insurance - including life, motor and medical insurance - as well as problems in acquiring mortgages for people with genetic and rare diseases.

Although there has been some progress with better communication between patient groups and specialists in the medical field, it remains the case that those who have received an accurate diagnosis are considered fortunate. Patients and families affected by rare diseases can wait years for a correct diagnosis and the number who have received an incorrect diagnosis before the final one is made is too high. Delays in diagnosis have serious implications for both life expectancy and quality of life and are leading to inefficient use of already overstretched resources. In 2011 a survey by the Genetic and Rare Disorders Organisation showed that 13.3% of people waited over ten years for a diagnosis and that 37.2% received an incorrect initial diagnosis. Any delay in diagnosis or misdiagnosis can result in multiple and unnecessary appointments with doctors and consultants, incorrect treatments and diagnostic tests and, of course, significant distress. Diagnostic experiences for patients vary greatly and there are many questions concerning equity of access and fair treatment, depending on where one lives in the country. The lack of awareness of rare conditions among health care professionals, including family GPs, is of concern to the Genetic and Rare Disorders Organisation's members, who have highlighted the fact that in the case of paediatrics the parents are the experts who inform the health care professionals. The delay for a genetic test at the National Centre for Medical Genetics is in excess of 15 months and samples continue to be sent abroad, costing the Government in the region of €1.5 million per annum.

When we previously presented to the committee in February 2012, our main concern was the lack of a central point of information for patients or medical professionals in the field of rare diseases. We demonstrated that in certain areas where patient groups exist, information flows and awareness is greater. However, thousands of patients have no group to represent them or inform the medical professionals on their conditions. They feel lost and marginalised and are becoming increasingly desperate. The Genetic and Rare Disorders Organisation is represented on the national steering committee at the Department of Health. The latter is working with stakeholders on the development of a national plan. The issue of a national office for rare diseases has emerged as a key recommendation. This was also one of the key needs to come out of the consultation process on the development of a national plan at a meeting of stakeholders on 11 June 2012 and the associated online consultation that followed. It is proposed that the rare diseases office would assist with and support epidemiological research and population studies in rare disorders with partners - principal among which would be the Health Research Board, HRB, the Medical Research Charities Group, MRCG, the Department of Health, Institute of Public Health, etc. - and over time consolidate access to all known rare disease registries and incorporate the relevant information into the Orphanet portal.

One of the goals of the office would be to support local implementation of best practice, as the patient feedback from European project for rare diseases national plans development, EUROPLAN, and other public consultation indicates that Irish patients seek quality care as near to home as possible. It is hoped to provide early access to information and referral to ensure that patients will not be obliged to wait longer than necessary to be given a means to manage their mostly life-limiting and debilitating conditions. In addition, population screening and advances in therapies for rare diseases will emphasise the need for agreed care plans and pathways, which provide life-long care and which will require a governance model through a rare diseases clinical directorate. The national centre for metabolic disorders at Temple Street Children’s Hospital and the national centre for medical genetics at Our Lady's Children's Hospital, Crumlin, are seen as centres for expertise in rare disorders. However, both remain severely under-resourced. Due to significant resource deficits at the national centre for medical genetics, no new clinicians are being trained. This will result in an even greater shortage of trained professionals in this discipline in the next ten years. In order to prioritise rare diseases as a whole in the Irish health system and address the current information deficit among health care professionals when it comes to such diseases, networks for provision of equity and safe care to all those affected by rare conditions should be developed.

This provision should be either from a recognised national centre of expertise or by linkage through the patient’s health care provider to recognised European reference networks. The importance of the transition from paediatric to adult care cannot be overemphasised and needs to be managed seamlessly, as this is a highly sensitive time where families need additional support. The implementation of a patient-centred approach to accessing services according to individual patient needs with emphasis on continuity of care for the lifetime of the individual is vital. This can be best achieved through the development of a clinically led national centre for rare diseases.

Appropriate and timely access to medicines and treatments is vital to patients. Genetic and Rare Orders Organisation, GRDO, members have reported difficulties in obtaining appropriate treatments and medicines, and many do not believe that they have access to the best medical care for their condition. Trying to obtain medicines can be distressing for many patients and families. With no licensed treatment available for many conditions, patients are informed of off-label or unlicensed medicine and must inform their doctors. Significant inconsistencies in access to medicines, including orphan drugs, are experienced throughout the country. GRDO hopes this important issue will be addressed in the upcoming national plan for rare diseases.

As patients and their carers of people with rare disorders, we appeal to this committee to recognise that the area of rare diseases is complex and collaboration between all stakeholders is key to moving the process forward. We are therefore working with the national steering committee at the Department of Health on the development of a national plan for rare disease and are now working with the clinical lead for rare disease, Professor Eileen Treacy, on the national clinical programme for rare disease working group. The area of rare disease is one where the benefit of multi-stakeholder engagement has shown great benefit and enables progress. We thank all of those who have worked with us for 26 years to bring the voice of those living with rare diseases to the ears of those who can help us make sensible changes to improve the lives of so many in this country.

Since the early 1990s, GRDO volunteers have worked with patient organisations within the EU on advocacy to develop national plans and strategies to provide better care for patients affected by this condition in the health systems. Countries like France, Denmark, Sweden, Spain, Bulgaria and Romania have all developed national plans that have shown benefit to patient outcomes and also shown savings. Our learning from other member states have provided us with examples of best practice, and as a small country, this should be done more easily than in those with decentralised systems.

In 2009 the EU recommended that all member states have a national plan in place by 2013 and the Government has signed up to this. We are working with the Department of Health, the HSE, the Institute of Public Health, the Health Research Board and other patient groups, including the Irish Platform for Patient’s Organisations, Science and Industry and the Medical Research Charities Group on the development of a national plan which will go for public consultation in April of this year. We are assured that a national plan will be published later this spring and look forward to the announcement of a date of publication. We very much welcome the appointment of Professor Eileen Treacy as clinical lead for rare disease and the development of a working group to develop a clinical care programme.

We as patients are still awaiting a national office or a point where we can ensure that access to the best information is provided to all those who seek it - not only the patients and their carers and families but researchers, clinicians, social workers and policy makers. This is an absolute necessity, with the benefit of such an office obvious to us and all stakeholders, and we hope it will be obvious to the committee. This office will not cost a significant sum of money considering what it is costing every day to have patients referred to several departments, adding to the general cost of health care and creating distress, frustration and further isolation. To put it bluntly, for us it is a "no brainer", so we implore the committee to support us in this, as it is the cornerstone of support for us.