An Easy Guide to Rare Diseases in Ireland was launched on February 24th in the Mansion House in Dublin.  The guide is designed for the general public, healthcare professionals and the government.  It is the culmination of a lot of hard work by people across the rare disease sector, particularly Rare Disease Ireland, Health Research Charities Ireland (HRCI), and IPPOSI. 

Alpha-1 Foundation Ireland is proud to support this fantastic guide.  It serves to inform and educate but also inspire urgent government action in the area of Rare Diseases.  We would like to thank Brendan Gallagher our own Alpha-1 hero whose story features on page 41.  To read Brendan’s story for yourself read the Easy Guide here.  

There are so many areas within rare diseases in which we compare poorly to our European neighbours.  For example, a mere 8 conditions are included in the national newborn screening programme in Ireland, compared to an average of 20 in the rest of Europe.  This is disappointing when we consider that Ireland was once a world leader in newborn screening when we began testing all newborns for PKU in 1966.  This made Ireland the second country in the world after the USA to introduce a newborn screening programme.  For more on the current Irish newborn screening programme visit their website here. 

Early diagnosis of a rare disease if often life saving so the list of conditions included in the “heel-prick” test must be expanded.  In addition, Ireland does not have enough clinical geneticists and genetic counsellors which is leading to missed or delayed diagnosis and gaps in patient understanding.  The guide identifies many other weaknesses and proposes a host of practical solutions that could transform healthcare for people affected by a rare disease. 

Additional information on the launch and the contents of the guide have appeared in the Irish Times and the Irish Independent.  

Of note, the very first guide to Rare Diseases in Ireland was published in 2013.  This version also highlighted Alpha-1 with Josephine McGuirk telling her own story.  To read Josephine’s story click here. 

Finally, if you have been diagnosed with a rare condition and are struggling, unsure of who to talk to or where to turn contact the National Rare Disease Office at the Mater Hospital.  Information is provided through their website, through email at: rare.diseases@mater.ie and on the Rare Disease Information line: Tel 01-854 5065.