My name is Gerry Finnerty and I am an Alpha-1 patient.

I have the ZZ form of the condition which is the most severe to be diagnosed with. This means both copies of my alpha-1 antitrypsin gene contain the Z mutation. This harmful mutation means I make very little of the alpha-1 antitrypsin protein, and this is the reason why the condition is called alpha-1 antitrypsin deficiency.

I have decided to add my story to the other Alpha-1 patients that have told their stories for the Alpha-1 Foundation Ireland website. My story I hope will have information that might be of help to other Alpha-1 patients and their families.

My story begins around 2000 to 2002 I was 42/43 years old when I started to have a number of chest infections that became difficult to clear and I was having some breathing problems. My GP had prescribed some inhalers but these were not really helping in any way. My GP had not mentioned anything about Alpha-1 and I don’t think he had much information if any at the time on Alpha-1.

Myself and my wife Helen were not happy with how I was and with not getting over any of these infections so eventually I got to see Professor Shane O’Neill, a pulmonary specialist in Beaumont Hospital who listened to my story. He immediately made an appointment for me to see Professor Gerry McElvaney and have a blood test for Alpha-1.

This was positive and I then sat down one day with Professor McElvaney to hear what all this meant for me. I can tell you now that meeting changed my life and what I potentially could face. Gerry McElvaney is a very straight talking man and clarified in a fair and sympathetic way all aspects of what this meant for me as in how my lung function and general health could be affected going forward.

There was one huge positive for me and it was I had stopped smoking about 8 years previously.

The rest of what I heard really frightened me and I was really worried on what was to come.

The Alpha-1 team then as I knew it was Professor McElvaney, Larry Warren and nurse Kitty O’Connor. I was set up with regular pulmonary and liver function test as well as X-ray and CT scans. I do think it would have been very helpful if there was someone within the Alpha-1 Foundation that patients could talk to about the condition and hopefully help with dealing with the condition as it progressed and how a person’s health could deteriorate.

I decided to deal with my condition and try not let it interfere or deter from what I wanted to do with my life. I had a young family and a career that was progressing and I also was an active golfer. I did get a number of years where Alpha-1 did not really encroach on my life or cause any issues with my quality of life. I am delighted that I did continue to live life then because now it is not possible to do a lot of the things I did enjoy.

A few years after I was diagnosed, I was asked if I would like to go for a test to see if I was suitable for a clinical trial of a new drug that was going to start.

This trial was for a drug more commonly known as replacement or augmentation therapy.

This meant I would get weekly doses of the alpha-1 antitrypsin protein my body was not producing (and never did) to protect my lungs when I used to smoke or when infections would hit. My test was good and I was accepted onto the trial.  So began the trial period for the drug now known as Respreeza, also called augmentation or replacement therapy for people with lung disease caused by severe Alpha-1 (my ZZ type). This drug would hopefully slow down the progressing of the emphysema and also help in the fight against infections and reduce inflammation in the lung area.

There was eventually 22 participants in the trial and when it concluded, the trial results were brought before the HSE to seek reimbursement so suitable Alpha-1 patients could receive this drug. Unfortunately the HSE rejected it for reimbursement. This rejection lead to a major campaign by the Alpha-1 Foundation and many of the patients to try and persuade the HSE and the Government to grant us the use of this drug. We were not successful and the drug was withdrawn by the pharmaceutical company.

Unfortunately after a short time of not receiving the drug a couple of the patients over a period of time began to deteriorate and unfortunately passed away. It is not clear if the withdrawal of the drug had anything to contribute to this event. Shortly after this, the then Minister for Health Simon Harris announced in the Dáil he was allowing the drug to be administered again to all the remaining patients that were on the trial. Unfortunately again it was only these patients that would have Respreeza available to them. I felt this very unfair as he was saying this medication is good for some patients but not others with the same illness.

Hopefully in the near future new therapies will become available which will help to slow down the progression of this serious illness.

So where am I now with this condition? There is no doubt my quality of life is deteriorating but I would think slower than if I was not receiving my Respreeza augmentation therapy. The number of chest infections have been low in my case over the years but are now increasing and becoming more severe. I require oxygen for all activities and high levels of oxygen for activities such as walking and exercise.

I feel a lot more anxious in myself and worry more about my future. Dealing with a chronic illness is not easy, it puts pressure on you and your family and this in my opinion can lead to other issues with your health and other aspects of your life. It would be great to have someone in the Foundation with experience in these type of issues that patients could discuss these problems with.

My two children are Alpha-1 carriers thankfully with the milder form of the condition (they carry only 1 faulty Z gene). Also another positive for them is they have never smoked so it is unlikely and I am hoping they will not have any serious health issues from Alpha-1.

It is important to have all the family tested so you know what you are dealing with going forward.

I retired in February 2020 because my health was deteriorating and I could not carry out my work to its full potential. I wanted to try and do as many things as possible that myself and my wife Helen enjoyed before I became too unwell.

Well as everyone knows Covid arrived in March 2020 and the world closed down for the next 2 years so nothing happened. But as I write this Covid is still with us but thankfully not as severe and we are all back living a near normal life again. I am no longer playing golf unfortunately as it became too difficult. It is something I miss. I might get back to that someday.

To finalise one thing that’s important with Alpha-1 is early diagnosis. To be aware you have Alpha-1 is so important not only for the diagnosed person but also their family so that all family members can be tested. The test is a simple blood test which a GP can carry out.

I must highlight the dangers of smoking it is the cause of so many lung and other health issues.

I talk openly to everyone and anyone who wants to listen to me about Alpha-1. Questions I would be asked, some from people that know me and others who don’t, and it could be about why I am using oxygen to get around. I am happy to let people know about Alpha-1 because it is still not a well-known illness with a lot of the public. Alpha-1 Foundation Ireland have done tremendous work in highlighting this chronic illness but we all as patients and our families can get the message out there.

I would like to thank Geraldine Kelly, CEO Alpha-1 Foundation Ireland, now retired in the last few weeks for all her help in various different ways over the past 6 years and also Dr Tomás Carroll in the Alpha-1 lab for his positive support over the years. I wish Anne Marie O’Dowd the very best as the incoming Alpha-1 Foundation Ireland CEO.

To my fellow Alphas Josephine McGuirk, Orla Keane, who it is great to chat to about many things, including our illness and how it is affecting each other in our daily lives in different ways, and also my Cork Alpha-1 friend Johnny Hannan. I think it is important to keep a connection with fellow patients.

I am also very grateful to my loving supporting family, my daughter Karen, my son Colin and my wife Helen who have been wonderful with their support.  

That’s my story for now I hope it is of interest to some and I might have more to add later.

Gerry Finnerty    

25^th January 2024