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. 

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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 This email address is being protected from spambots. You need JavaScript enabled to view it. or phone 01-8093871.

 

 

 

This week is Organ Donor Awareness Week 2016 which runs from April 2nd to 9th.  There are approximately 700 people in Ireland awaiting life-saving heart, lung, liver, kidney and pancreas transplants. Thanks to the gift of organ donation over 3,000 people in Ireland have been given a new lease of life.  In 2015, 266 organs were transplanted.  A total of 233 were as a result of the generosity of the families of 81 deceased donors and the remaining 33 were from living kidney donors.  St. Vincent’s Hospital conducted 61 liver transplants, the Mater Hospital conducted a record 36 lung transplants as well as 16 heart transplants, and Beaumont Hospital carried out 153 kidney transplants (including 33 from living donors).

The focus of Organ Donor Awareness Week is to raise awareness about the ever increasing demand for organ transplantation which relies on the public for organ donation.  The key message is that families need to discuss organ donation and keep their willingness to donate visible by carrying the organ donor card, downloading the Smartphone App and permitting Code 115 to be included on their driver’s license.

The Irish Kidney Association is the national organisation charged with the promotion and distribution of the organ donor card in Ireland, on behalf of Organ Donation Transplant Ireland.  Free information fact files, which accompany organ donor cards, are obtainable from the Irish Kidney Association (www.ika.ie) and are available nationwide from pharmacies, GP surgeries and Citizen Information Offices etc.

Organ Donor Cards can also be obtained by phoning the Irish Kidney Association (LoCall 1890 543639 or Freetext the word DONOR to 50050).  It is also now possible to store an organ donor card, the ‘ecard’ on smartphones. Simply search for ‘Donor ECard’ in the iPhone Store or Android Market Place.

In conjunction with Organ Donor Awareness Week there was an excellent interview with Leigh Bagnall, cystic fibrosis patient and lung transplant recipient, and Karen Redmond consultant lung transplant surgeon in the Mater Hospital on RTE News this week which can be watched here.  Ms. Redmond was a guest speaker at the Annual Alpha-1 Conference in October 2015.  

 

Have you been diagnosed with alpha-1 antitrypsin deficiency (Alpha-1) recently?  Have you discussed this information with your family?  If you have been diagnosed with Alpha-1 other members of your family could also have this genetic condition. This is because Alpha-1 is caused by genes we inherit from our parents. We all have 2 copies of every gene in our body, including the Alpha-1 gene.  One copy we inherit from our mother, the other is from our father.  So if you have Alpha-1, there is a chance your brothers or sisters could have it too.  Testing for Alpha-1 could improve the lives and health of your family members, particularly if some are smokers or work in environments harmful to the lungs.  Please print this information leaflet from our friends in the US Alpha-1 Foundation and give it to your relatives to share with them what you have learned about Alpha-1.  For more information on family screening and how to get tested please contact us on This email address is being protected from spambots. You need JavaScript enabled to view it. or 01-8093871. 

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What is Alpha-1 Antitrypsin?
Alpha-1 antitrypsin is a vital protein produced by the liver to protect the lungs. It provides protection from the harmful effects of infections and inhaled irritants, particularly tobacco smoke. It can be easily measured by a simple blood test. 
What is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition which, after cystic fibrosis, is the commonest genetic disorder in Ireland. It severely affects more than 15,000 people, with another 250,000 carriers also at risk of lung and liver disease on the island of Ireland. It is a proven genetic risk factor for chronic obstructive pulmonary disease (COPD).
How Do I Get Tested?
The Alpha One Foundation provides free testing for Alpha-1 as part of a national screening programme which is funded by the HSE. For more details ring 01-8093871 or email alpha1@rcsi.ie.