What is a rare disease?
A ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. There are more than 6000 known rare diseases affecting up to 6% of the total EU population (at least 30 million Europeans). This means that at any time, approximately 300,000 people in Ireland have a rare disease.
Individuals and families who have received a new diagnosis of a rare disease can have many questions. If you are trying to find information about your rare disease or to understand what supports and services are available to you there is information on the links below that may help you. If you do not find the information that you are looking for staff in the National Rare Diseases Office will try to assist you: National Rare Diseases Office contact us.
Difficulty Finding Information
Find Specialist or Service
Newly Diagnosed or Undiagnosed
Benefits and Schemes
Rare Disease Support Groups
Disability Information
Rare Disease Ireland
Rare Disease Ireland is a patient advocacy national alliance for voluntary groups representing people affected by or at risk of developing a rare disease www.rdi.ie
Read RDI research report ‘Living with a Rare Disease in Ireland during the COVID-19 Pandemic
Resolution4Rare Join the global community of people living with rare conditions, led by Rare Diseases International, EURORDIS
Counselling in Primary Care (CIPC)
This service is for people with mild to moderate psychological difficulties. It is a short-term counselling service that provides up to 8 counselling sessions with a professionally qualified and accredited Counsellor/Therapist. It is a service for medical card holders, who are 18 years of age or over, and who want help with psychological problems that are appropriate for time limited counselling in primary care. The service is suitable for people who are experiencing certain difficulties such as:
- Depression
- Anxiety
- Panic reactions
- Relationship problems
- Loss issues
- Stress
Read further information on mental health from the HSE
European Reference Networks(ERNs)
ERNs are clinical networks that bring together medical specialists, patient representatives and researchers across Europe into virtual networks to share expertise on rare diseases.
ERNsbring together experts from across Europe who specialise in rare diseases. This means that no matter where a patient lives, they can benefit from expert advice, accurate diagnosis, the best available care, and sometimes even access to new treatments.
ERNs help patients in several important ways:
- Better care: Doctors can consult ERN experts to make sure patients get the right diagnosis and treatment.
- The Information Travels – Not the Patient: Virtual consultations mean patients don’t always have to travel abroad for specialist care.
- Safe data sharing: With patient consent, medical information is shared securely with selected experts so they can work together on the best care plan.
You can access the European Commission ERN Service Directory (webgate.ec.europa.eu). The ERN search tool allows easy access to information about the European Reference Networks, such as ERN names, places, countries, and clinical centres.
Some ERN websites will mention ERN experts centres within countries and they may also mention patient advocacy organisations that are members in each country.
Referrals
ERNs work through healthcare providers. Patients should speak to their doctor about possible referrals within the national health system to centres that are ERN members.
The doctor must be part of an ERN or work in collaboration with a healthcare provider that is a member. They can upload anonymised patient data, with the patient’s permission, to the Clinical Patient Management System (CPMS) to get advice from other experts in the network.
CPMS
This is a secure online system where doctors upload patient information, with patient consent, and get advice from ERN experts across Europe. It allows specialists to review cases together, without the patient leaving Ireland.
The doctor must be part of an ERN or work in collaboration with a healthcare provider that is a member. They can upload anonymised patient data, with the patient’s permission, to the Clinical Patient Management System (CPMS) to seek advice from other experts in the network.
Where to find more help and information
Rare Diseases Ireland (rdi.ie)
Rare Diseases Ireland (RDI) is the national alliance for rare disease patient organisations in Ireland, working across all rare diseases to improve the lives of the estimated 300,000 people living with rare diseases in Ireland.
Rare Ireland (rareireland.ie)
Rare Ireland is a support group dedicated to working on behalf of the rare community, highlighting the needs of families, children and young adults affected by rare conditions and identifying the areas they can influence change and improve services. They provide support for rare disease families by providing an opportunity for rare parents within the network to connect with each other for support, information and advice
