Last August Anne Gormley from Ramelton in Co. Donegal was interviewed on the popular Shaun Doherty Show on local station Highland Radio to talk about her diagnosis of COPD and Alpha-1.  Anne spoke powerfully and bravely about how difficult day to day tasks are when every breath is a struggle.  

She also discussed how her late brother John was affected by Alpha-1 and how his poetry is being brought to a wider audience with the publication of a collection of his poems.  This collection is called “Window to my World” and was launched in Manorcunningham last August with over 400 people in attendance.  Professor Gerry McElvaney a specialist in Alpha-1 at Beaumont Hospital was also interviewed on the show.  He spoke about how Ireland has one of the highest rates of Alpha-1 in the world.  1 in 25 people in Ireland carry the faulty gene that causes Alpha-1.  This gene is faulty because it contains the Z mutation, and most people diagnosed with Alpha-1 carry either 1 or 2 copies of the Z mutation.  For years it was thought that only people who inherit 2 copies of the Z mutation were at risk of lung disease.  Research from the McElvaney team has shown that carriers of 1 copy of the Z mutation who smoke also have increased risk for lung disease, particularly COPD (read more on this study here).  Importantly, the earlier someone is diagnosed with Alpha-1 the better because there are positive steps people can take to prevent lung disease developing, for example quitting smoking.  Professor McElvaney highlighted the work of the national screening programme run by the Alpha One Foundation which offers a free test for Alpha-1.  

Thanks to Shaun Doherty, Ciara Johnston, and everyone at Highland Radio for shining a light on Alpha-1.  And a big thank you and well done to Anne and all the O’Donnell family.  The full interview can be listened to at the very bottom of the page. 

If you would like more information on how to get tested for Alpha-1 or how to buy a copy of “Window to my World” email alpha1@rcsi.ie or phone 01-8093871.

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