A disease is defined as rare when it affects not more than I in 2,000 people. In the EU alone there are more than 30 million people diagnosed with a rare disorder , most of them are children. While many would be of genetic origins others can be the result of infections, allergies and environmental causes. Research is on going and presents with remarkable interest in other health sectors, reason being as it serves as models to better understanding of more common conditions.
Being given a diagnoses of an illness or disorder you have not heard of and maybe your doctor has never seen can cause distress and feelings of isolation for some, but can also be empowering. While we try hard not to focus on names and labels, they are also a way to help connect us with others in similar circumstances. With rare disorders, it can be more of a challenge to find information and other people with similar history because there are so few, but, to date we have over 7,000 known rare diseases in the world and multiple databases of contacts that you can access.
The National Rare Diseases Office based in the Mater Hospital provides current and reliable information about genetic and rare diseases to patients, families and health professionals. It was established in June 2015 by the Health Services Executive (HSE). It is staffed by Information Scientists who have significant experience working with individuals and families affected by rare disorders.
If you have a family member affected by a rare disorder and would like more information you can visit any of the following listed websites listed below or contact
National Rare Disease Office, Mater Misericordiae University Hospital, Eccles St., Dublin 7.
Rare Disease Infoline: 01 854 5065 Mon-Thurs inclusive 9.30am -1.30pm
Office Telephone: 01 8097475
Contact a Family is a UK based website that helps families, in complete confidence, get in touch with others in a similar position. They can be contacted at www.cafamily.org.uk
World Rare Disease Day takes place every year on the last day of February. Different groups and organisations arrange events to raise awareness all around the world. Events are widely advertised and greatly supported.
In 2014 SNPA were invited to present to the Joint Oireachtas Committee on Health & Children along with other stakeholders involved in Rare Diseases in Ireland. Click to download our presentation.
For any further information , or if you would like to contact someone regarding any of the above you can email
firstname.lastname@example.org and you will find support from other parents on our private parent group on Facebook