Rare Disease Day – February 29, 2012
Presentation to the Oireachtas Committee on Health
Opening Statement:
Avril Daly – Representing the National Rare Disease Taskforce, Towards 2013
The Taskforce, Towards 2013 comprises of representatives from:
The Genetic &Rare Disorders Organisation – Irish National Alliance for Rare Diseases (GRDO)
The Medical Research Charities Group (MRCG)
The Irish Platform for Patients Organisations Science and Industry (IPPOSI)
And Margaret Webb, representing IPPOSI and the MRCG
On behalf of the Genetic & Rare Disorders Organisation, the National Alliance for people affected by Rare Diseases in Ireland, The Medical Research Charities Group and the Irish Platform for Patients Organisations Science and Industry who together make up the National Taskforce on Rare Diseases, we would like to the thank The Committee for giving us the opportunity to present to you on International Rare Disease Day.
Rare Diseases – Background
A rare disease is defined in the EU as a condition that affects fewer than 5 in 10,000 people, 0.05% of the population. Although precise data on rare disease prevalence has 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 Committee of Experts on Rare Diseases, EUCERD, (Aymé et al, 2011). Approximately 80% of Rare Diseases are genetic in origin and most are life threatening or associated with significant disability. Some 50% to 75% of rare conditions affect children and it is estimated that 30% of these children will die before the age of five.
It has been suggested that there may be higher prevalence rare diseases in Ireland due to our history of being a small Island nation with a greater degree of genetic interaction. Taking a percentage of 6-8% into account and the census 2011 figures, as many as 350,000 citizens of Ireland could be affected by a rare condition during their lifetime. This would represent by far the largest patient constituency in the country. Yet Rare Diseases are largely ignored and misunderstood.
This is understandable when we consider that there are between 6,000 and 7,000 known rare diseases, and according to the European Database on Rare Diseases, Orphanet, approximately five new conditions are described each week.
The Impact of Rare Disease
When a person is diagnosed with a rare condition the impact on the entire family is enormous. Many rare diseases are complex and associated with physical, sensory, intellectual, social, emotional and genetic consequences. A diagnosis often goes beyond the immediate symptoms experienced by the person affected, this can have effects on the entire family unit in many cases and can lead to the development of related financial and psychological issues.
Rare disease impacts on the whole family: in addition to the symptomatic person, carers, siblings and other relatives at high genetic risk of the condition are all impacted. Many rare diseases require a multi-disciplinary approach involving a range of services at each stage of the affected person’s life. Rare conditions are often very difficult to manage and those affected can encounter enormous difficulties in finding adequate treatment.
Often people with rare conditions are unable to participate in work or education due to their symptoms. However, for a significant proportion whose condition does not affect their ability to participate, it is the lack of appropriate supports which excludes them from education and employment opportunities.
It is also acknowledged that many restrictions and difficulties are encountered with respect to the provision of many types of insurance including life, motor and medical insurance as well as difficulties in acquiring mortgages for people with genetic and rare diseases.
The Diagnostic Journey
In our healthcare system, those who actually are in receipt of an accurate diagnosis are actually considered fortunate. Patients and families affected by rare diseases can wait years for a correct diagnosis and a worrying number receive an incorrect diagnosis before their final one is made. This has serious implications for both life expectancy and for quality of life and we believe is leading to an inefficient use of already overstretched resources.
A recent survey carried out by GRDO shows that 13.3% of people waited over ten years for a diagnosis and 37.2% received an initial incorrect 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.
The experiences of patients and their families on the path to diagnosis vary greatly. The experiences do however, raise concern about the equality of access and fair treatment in certain parts of the country. Many of those affected worry about the level of awareness of rare conditions among healthcare professionals, including that of their GP and local community health services. In the case of paediatric cases it is the parents who are the experts informing the healthcare professionals.
Currently there is a delay of 15 months for a genetic test at the National Centre for Medical Genetics and samples must be sent abroad costing the government in the region of €1.5m per annum.
A National Centre for Rare Diseases
Currently in Ireland there is no central point of information for patients or medical professionals in the field of rare diseases. Where patient groups exist, the information flow about the condition and awareness is greater, but there are thousands of patients with no group to represent them or inform the medical professionals about their conditions. They can feel lost in the system and completely isolated, a burden to bear in addition to that of having a serious condition.
In Ireland, the National Centre for Metabolic Disorders at Temple Street Children’s Hospital and the National Centre for Medical Genetics (NCMG) at Our Lady’s Children’s Hospital, are seen as Centres of Expertise for Rare Disorders. However both are severely under resourced. In fact the NCMG does not have its own governance or funding structure and is supported through the budget of the Children’s Hospital. Due to significant resource deficits it is not training any new Clinical Geneticists which will result in an even greater shortage of trained professionals in this discipline in the next ten years. Ireland is already significantly under the European recommendations for the provision of geneticists and genetic counsellors for its population.
The model of other Centres of Expertise such as the National Centre for Hereditary Coagulation Disorders show how a coordinated approach to care leads to better outcomes for patients. Centres such as this provide valuable training and information to professionals and the public, it should be recognised that for many rare conditions, sufficient expertise does not exist in this country.
In order to prioritise rare diseases as a whole in the health system in Ireland and address the current information deficit among healthcare professionals in respect of rare disease, 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 healthcare provider to recognised European Reference Networks (ERNs).
Also the transition from paediatric care to adult care needs to be managed effectively and seamlessly as this transition is a highly sensitive time where teenage patients and their families need additional support. This should be co-ordinated centrally by a lead professional throughout the process.
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.
Access to Treatment
Vital to the empowerment of patients with rare disease is access to appropriate medicines and treatments. Respondents to the GRDO patient experience survey report many difficulties in obtaining appropriate treatments and medicines:
41 % do not consider that they have access to the best medical care for their condition.
64% state that “Access in Ireland to medicines / treatments available in other countries” would make a great difference to them.
Trying to obtain medicines /treatments can be distressing for many patients and families. There is no licensed treatment available for many rare diseases, so patients are informed of off-label or unlicensed medicine and have to inform their doctors. Significant inconsistencies in access to medicines, including orphan drugs are being experienced throughout the county and this is very concerning.
Our Appeal to you
We would state at this time, that this introduction is only an overview of the implications of life with a rare condition. It is a complex area requiring joined up thinking and collaboration is key between all stakeholders in order to move the process forward. For many years GRDO along with IPPOSI and the MRCG and more recently, the Taskforce has worked with patient’s organisation within the EU on advocacy to establish national plans and strategies to provide better care for patients affected by this condition in the health systems.
Countries like France, Denmark, Spain, Portugal and Bulgaria and Romania have all developed national plans that have demonstrated benefit to patient outcomes and also shown savings. The French will launch their second national plan today. Our learnings from other member states provide examples of how best to approach the development of such a plan and as a small country this should be done more easily thane others who have decentralised systems.
In 2009 the EU recommended that all member states have a national plan in place by 2013. The Irish government has signed up to this commitment. We are working with the Department of Health, the HSE, The Institute of Public Health, the Health Research Board and the many patient groups represented by the three umbrella groups, GRDO, IPPOSI and the MRCG on the development of a national plan which will go for public consultation in April of this year. Following the consultation process and completion of the plan, we then need the plan to become reality. For this, the National Plan for Rare Diseases will require an agreed timeline and appropriate resourcing.
Secondly, we strongly believe that a clinically led National Centre for the coordination of information and the establishment of care pathways for patients is absolutely vital and represents an urgent need. We have in conjunction with stakeholders submitted a Business Plan to Dr. Barry White outlining the benefits such a centre could bring and the cost benefit that would result in the health care system. Quite simply, a National Centre for Rare Diseases is integral to the development of care for patients affected by rare conditions.
We ask you to work with us to ensure that the National Plan for Rare Diseases and the development of the National Centre for Rare Diseases is implemented in the shortest possible time frame.