Josephine McGuirk suffers from Alpha-1, a genetic condition which most GPs have not heard of. This is her story as told to FIONA TYRELL of the Irish Times.

NOT MANY people have heard of alpha-1 and it was new to me until about nine years ago when my brother died. Alpha-1 antitrypsin is an important protein produced by the liver that acts as a protection for the lungs from the destructive actions of lung illnesses and exposures to environmental factors such as tobacco smoke. People with alpha-1 are lacking in this protein.

It is a genetic condition. The doctors reckon that if both parents are carriers of the condition, one in four of their offspring will have alpha-1. Three out of my 10 brothers and sisters have it.

Three of us also have haemochromatosis, which is also an inherited disease. This can also affect the liver. Everyone else gets a few bob from their parents, but we got two diseases. All four of my children are carriers of the disease, but none of their partners are. So they are in the clear.

I have to admit that I used to be a very heavy smoker and five years after I was diagnosed with alpha-1, I was diagnosed with emphysema. I suppose at 62 I can’t really run down the road anyway, but I find that I can’t really exert myself without getting short of breath.

Just over four years ago my husband John and I decided to leave our two-storey home in Artane that we had lived in for 32 years and move out to a house in Bettystown, which had no stairs and is a 15-minute walk from the beach.

Before the move I was finding going up and down the stairs difficult. Someone mentioned a stair lift and, if I could, I would have run a mile. I decided to move, instead of getting a stair lift. Now out in Bettystown I go for a walk on the beach as often as I can, but I have to stay in from the breeze. I have noticed a big difference in my health since we moved. Sometimes I forget that I have anything wrong with me at all.

Three years ago I was asked to go on a trial for a new drug for people with alpha-1 called zemaira, which is supposed to replace the missing protein. For the first two years I didn’t know if I was on a placebo or the drug itself. Now the trial has been extended and this time I know that I am on zemaira. I have improved a bit. A nurse travels out to give me the drug by infusion every week.

I had no hesitation going on a drug trial. Maybe it is because I am older and I feel that if I can help anyone else it will be worth it. Mostly I want to raise awareness about the condition. There is so little knowledge about the condition that a lot of people are being treated for asthma when really they have alpha-1. Most GPs have not heard of it. Testing for alpha-1 is simple – it is just a finger prick test.

People say that I have a great outlook on life. I just take on board what life gives me. What else can you do?

When I was initially diagnosed I was a bit frightened because my brother had died. But he had other complications and didn’t have the same access to services as I have. My other brother with alpha-1 is 53. He has no sign of disease in his lungs. He never smoked and is very active. The doctors keep an eye on him.

I am doing well. I am on inhalers to open the airways in my lungs. I get the ’flu and pneumonia jab and try to stay away from people who are coughing and spluttering. The more chest infections you get, the more your lungs are damaged. I am involved in raising money for the Alpha-1 Foundation charity. I walked the ladies mini-marathon last year and hope to do it again this year.

I am not one of those strong anti-smoking people. I feel sorry for people trying to give up. I know how hard it is, but it is worth it in the long run. I had tried to give up smoking for years, but when I was diagnosed with emphysema I went for hypnotherapy. My last cigarette was the cigarette I had just before I went into the hypnotherapist.

A severe genetic disease which affects the lungs and the liver 

Alpha-1 antitrypsin (AAT) deficiency is a genetic disease that primarily affects the lungs and liver, which can cause life-threatening conditions.

The first formal report of the disease occurred just over 40 years ago, when it was noticed that some patients presenting with emphysema had a deficiency in the protein alpha-1.

Alpha-1 antitrypsin is a protein produced by the liver. It protects the lungs from the destructive actions of common illnesses and exposures, particularly tobacco smoke.

Research by the Alpha One Foundation has demonstrated higher incidence of alpha-1 on the island of Ireland than previously thought, with an estimated 3,000 individuals at risk of developing this severe disease, compared with 1,600 individuals.

To date, only 120 individuals with AAT deficiency have been identified in Ireland. This means that more than 95 per cent of those with the condition are either undiagnosed or misdiagnosed with other conditions – such as COPD or asthma.

A further 700,000 Irish people are estimated to be carriers of the disease, says the foundation.

In May 2004 a national targeted detection programme for AAT was launched in Beaumont Hospital, Dublin. The programme employs a full-time clinical research nurse who attends respiratory outpatient clinics where patients are targeted for screening.

For further information on alpha-1 see www.alpha1.ie, or telephone 01-8093871.

This article appears in the print edition of the Irish Times, Tuesday, April 21, 2009.