Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008. Held on the last day of
February each year, it seeks to raise awareness for the impact rare diseases have on the lives of patients and those who
care for them. A record 72 countries and regions participated in 2013 and over 80 are expected this year including Ireland and 26 other European Union Member States.
The European Union considers a disease as rare when it affects fewer than 1 in 2,000 people. There are over 6000 rare diseases identified which are individually rare but collectively common. In Ireland, it is estimated that over 300,000 people have a rare disease. 70-80% of rare diseases are genetic and enduring throughout a persons life. The majority affect children in early life and sadly an estimated 30% of children with rare disease will die before their 5th birthday.
Caring for a child living with a rare disease has many aspects. Some children have access to medicines while others have no treatment available. Some children are fairly independent while others require intensive physical assistance and equipment. Care can consist of special equipment, expert medical consultation, phyiotherapy, social services, medicines, respite for family members, and much more. For most children and adults living with a rare disease, primary care is provided by us their family members.
On February 26th a Rare Disease Briefing took place in the Mansion House in Dublin, featuring updates on the progress being made to establish a strategy for rare diseases in Ireland. Dr John Devlin, Deputy Chief Medical Officer in the Department of Health provided an update on the development of the National Plan for Rare Diseases. Prof Eileen Treacy, Clinical Lead for Rare Diseases updated attendees on the National Clinical Programme for Rare Diseases and Mr Philip Watt Chairperson of the Rare Disease Task Force provide an overview on the work to date.
On Thursday 27th, we presented an SNPA-Oireachtas-Health-Briefing-on-Rare-Disorders-28th-February-2014 along with presentations from several stakeholders including Anne Lawlor GRDO, Professor Eileen Treacy, Mr. Philip Watt, Rett Syndrom Ireland and Academic Centre on Rare Diseases to better inform our public representatives on rare diseases in Ireland.
Today in Belfast, a joint Irish North / South collaborative event is taking place to mark Rare Disease Day in the island of Ireland. The International Theme for the Day is Join Together for Better Care
To find out more about rare diseases and where you can access information, please click here.
Over the past few days we have been asking our members what rare diseases their children have and the list is growing from the more commonly rare to the absolute unique as well as those who have syndromes without names. The following are some of the rare disorders identified- Mitochondrial Disease, Fragile X, Long QT Syndrome, Tourettes, Battens Disease, 18p, PANDAS Syndrome, 2p Deletion, Rett Syndrome, Cinca Syndrome, Turner Syndrome, Hellers Syndrome, Wagr Syndrome, Prader Willi Syndrome, Joubert Syndrome, 3p Syndrome, Ducheene Muscular Dystrophy, Tuberous Sclerosis, Charge Syndrome, Cowens Syndrome, Cri du Chat Syndrome, Ehlers Danlos Syndrome, Aicairdi Syndrome, Fetal Valporate Syndrome, Dandy Walker Syndrome, Polymicrogyria, Neuron Migration Disorder, Klenifelter Syndrome, Apert Syndrome and more to be added as the day goes on.
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