Newly Diagnosed

If you or a family member has just been diagnosed with a genetic or rare disease it can be challenging to find reliable information about your condition. We can help you to find reliable information about your condition, contact us

Information

A new diagnosis will bring with it many questions. If your rare disease is genetic or inherited, you can find out more information about the types of inheritance and genetics services in Ireland through UCD site: Genetic Testing.

An Easyguide to Rare Diseases in Ireland and Consensus for Action  is a useful resource that gives you more information about experiences of those living with a Rare Disease. This also provides a glossary of terms commonly used when health professionals or people talk about rare diseases and genetics.

For reliable rare disease information the National Organization for Rare Disorders (NORD) an American database resource has been specifically prepared for patients and families with rare disease. This gives good rare disease summary information. Some of this information will be more focused on American based patient support groups or services which may not be relevant to you as an Irish patient. For Irish and European rare disease information Orphanet can help. If you have questions about this information or navigating this contact us.

For information on new emerging treatments for rare disease there is a useful information source, the European Patients Academy on Therapeutic Innovation, (EUPATI), that provides scientifically reliable, objective, comprehensive information to patients on medicines research and development.

Support

A new diagnosis can be a challenging time for individuals and families and some people find it useful to connect with others who share their experience. Rare Connect is a resource for linking support groups and families dealing with rare conditions internationally.

Patient support groups may be useful in providing support and advice. There are many support groups that help people with a rare disease and their families in Ireland.

For some rare diseases there may only be a few people in Ireland and there may not be a dedicated support group in Ireland.  Irish people with rare diseases frequently contact or join groups in the UK, in Europe or internationally.  You can find information on condition specific support groups through Orphanet.