The question of availability of quality treatment for EDS sufferers is addressed in the National Rare Disease Plan for Ireland which is a generic policy framework for rare diseases. The scope of the plan is broad given that there are approximately 8,000 rare diseases affecting millions of EU citizens; and consequently, there can be a dearth of expertise and knowledge about some rare diseases, simply because they are so rare.
The HSE National Clinical Programme for Rare Diseases was established in 2013 and is responsible for assisting with mapping and developing care pathways for rare diseases; facilitating timely access to centres of expertise – nationally and internationally; and developing care pathways with European Reference Centres for those ultra-rare disorders where there may not be sufficient expertise in Ireland. The National Rare Disease Office was established by the HSE in 2015 and is headed up by Professor Eileen Treacy, Director of that Office.
It is important to note that a revised Model of Care for Rare Diseases has been finalised and approved by the HSE. This model includes the further development of a model of care for transition from paediatric to adult healthcare providers. The more severe forms of EDS require specialist treatment often by multiple specialists but usually under the care of the specialist for the most severely affected organ system. These specialists can be paediatric cardiologists, rheumatologists, neurologists, orthopaedists etc. The provision of rheumatology services for all patients with musculoskeletal disease is addressed in the implementation of the National Clinical Programme for Rheumatology (NCPR) Model of Care for Rheumatology Services. The Model of Care aims to ensure that the rheumatology patient is seen, assessed and treated by the right person, in the right place and in the timeliest manner. The Model of Care for Rheumatology recommends minimal staffing standards, based on population, for each department in order to provide appropriate treatment to patients with rheumatological diseases.
With the implementation of this model of care, disease specific pathways for rheumatological disease groups will be developed which will include EDS as part of hypermobility diseases. The Paediatric Consultant Rheumatologists in Ireland based at OLCHC have specialist training in the management of all types of rheumatic and musculoskeletal disorders, including EDS. They are supported by a multidisciplinary team and have access to other relevant consultant specialists needed for the care of EDS sufferers.
It is worth noting that I have had significant engagement with representatives in the rare disease area. For example, I met with the Rare Disease Taskforce (comprising Rare Disease Ireland, Medical Research Charities Group (MRCP), The Irish Platform for Patient Organisations, Science and Industry (IPPOSI)) who represent the patient voice in the Rare Disease arena and also my officials met with them in February and May of this year and are scheduled to meet with this important stakeholder again in the Autumn to ensure that their input and the voice of the patient is represented in the continued implementation of the Rare Disease Plan.