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.

 

Josephine

 

 

 

 

 

 

 

 

 

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.

A 57 year old patient suffering from Alpha-1 will ride the length of Ireland from Mizen Head in the South to Malin Head in the North. Johnny Hannan wants to draw attention to his condition and make people, medical and lay, aware of it.

Asked why he was undertaking such an arduous task in his condition, Johnny said:
“When I was diagnosed with both lung and liver Alpha-1 in 2003 my specialist said that I had a condition that was not well known. So there must be thousands of people out there with it and who know nothing. To have this condition is life changing. I had to change my whole work and lifestyle because of it.”
“More people, especially doctors in hospitals and GPs need to know more about it. They should have notices on their boards telling people about it. They should test all their liver and lung patients for it.”
“It may seem crazy to ride a horse the length of Ireland but I made up my mind that I just have to do something to bring Alpha-1 to the attention of doctors and patients, particularly those who have liver or lung problems.”
“Much more needs to be done to detect and help people with Alpha-1. The test is very simple - just like a cholesterol test and can be done FREE by the Alpha One Foundation in Beaumont Hospital.”

The ride from Mizen Head in Cork to Malin Head in Donegal will pass through Goleen, Durrus, Macroom, Mallow, Charleville, Patrickswell, Limerick, Ennis, Gort, Oranmore, Galway, Tuam, Claremorris, Charlestown, Tubbercurry, Sligo, Bundoran, Ballybofey, Letterkenny, Buncrana, Carndonagh to Malin Head.

Alpha-1 Antitrypsin Deficiency (Alpha-1) is one of the most common hereditary disorders in Ireland. It affects both lungs and liver and can cause emphysema and cirrhosis of the liver. These can cause life threatening conditions in both adults and children. It is estimated that over 1,200 people have Alpha-1 which is either undiagnosed or misdiagnosed as something else e.g. COPD or Asthma.

Awareness meetings will be held in Cork (Moran's Silver Springs Hotel) on Thursday 7th June at 8pm and in Galway (Marriott Courtyard) on Wednesday 13th June 8pm. All GPs in Cork and Galway along with nurses and physiotherapists are invited to the meeting.

On 13th June in the Marriott Courtyard, Galway there will be an information meeting for patients, their families and other interested people from 2.00pm. Entrance to the meetings is free and is being organised by the Alpha One Foundation.

Lead speakers at the meetings will include, Prof Gerry McElvaney (Beaumont Hospital), Dr Cathal Bredin (Cork University Hospital) and Dr Anton O'Regan (UCH Galway).

For further information contact: Kitty O'Connor at Beaumont Hospital at 01-8093871 or email This email address is being protected from spambots. You need JavaScript enabled to view it..

Alpha One Foundation supports the Irish Donor Network - Always carry a Donor Card.

 

Dear Friends,

At our Alpha-1 Patient Patient Conference in Marino Institute of Education on October 7th concern was expressed about the effect testing family members for Alpha-1 would have on insurance and mortgage possibilities. 

Since then I have done some research into the matter and have been in contact with the Insurance Ombudsman, IFSRA (the regulatory body for the industry) and the Insurance Information Office. I have received some good and clarified information. Firstly: Under part 4, section 2 of the Disability Act 2005, it will be illegal to use (process) the results of genetic testing for Insurance, Life Assurance or Mortgage purposes. This also applies in the case of: Employment, Health Insurance and Occupational Pension. The full text of the new legislation can be found here

In other words, genetic discrimination will be illegal in Ireland from Dec. 31st 2005.

What will be considered when a person is looking for a pension, mortgage, etc. will be the usual criteria:

- Health history (symptoms etc.)

- Smoking status

- Usual questions pertaining to family history of heart disease etc.

It was emphasised that although the approach may vary from company to company, they are very competitive and are interested in individuals and as long as we tell it as it is there should be no great problems. Although genetic discrimination does not seem to have been generally applied there was always the fear that it would. Now that fear is removed and that is good news for us all. I plan to arrange an Insurance Information slot for our next patient conference.

I trust that this information will put minds at rest.

Yours sincerely,
Larry Warren, CEO Alpha One Foundation.

More information on this issue can be found on IrishHealth.com and a statement from Frank Fahey, TD, outlining the main terms of the legislation can be downloaded here.

 

Doctors are being urged to test all non-responsive severe asthmatics for Alpha-1, reports James Fitzgerald today in the Irish Times October 4th 2005. 

Patients who are not responding to conventional treatments for asthma or similar conditions should be tested for Alpha-1, a genetic disorder that often leads to severe lung or liver disease, according to the chief executive of the Alpha One Foundation.

Larry Warren says it is estimated that just one in 10 sufferers is successfully diagnosed and it is thought that around 1,200 people in Ireland have the disorder, roughly the same number of people with cystic fibrosis.

"What we want doctors to do is test all non-responsive asthmatics and COPD (chronic obstructive pulmonary disease) routinely for Alpha-1," says Warren.
"We'll send them the kit. All they have to do is send us the dried blood spots and we'll do the rest," he says.

All children who get an acute liver condition, such as jaundice, should also be tested for Alpha-1, according to Larry.

Alpha-1 antitrypsin deficiency is an inherited disorder which results in low levels or non-existence of a blood protein called AAT, which can lead to serious liver or lung disease. Although among adults it usually manifests in the lungs, Alpha-1 originates in the liver and can lead to liver failure at any time in life. It is the leading genetic cause of liver transplantation among children. Barring a transplant, it is an incurable disease although certain treatments, such as the introduction of an antitrypsin product, have been found to slow down its development.

"Catching it early can help as patients will learn how to manage it," says Warren.
"All teenagers with non-responsive asthma must be tested as a matter of urgency before they develop bad health habits, such as smoking, and so they can take precautions like wearing a mask while farming or when they're around animals," he says.

An estimated 200,000 people in Ireland carry a single deficient gene that causes Alpha-1 and may pass this gene on to their children.

"Every GP or responding consultant has to ask: is it asthma or is it Alpha-1? We don't want to frighten people but people need to know. Less than a tenth of people are successfully diagnosed and unless doctors are asking that question, we are looking for a needle in a haystack," says Warren.

Warren and Alpha One Foundation chairman Professor Gerry McElvaney have co-written a letter that is being circulated to all GPs notifying them of the foundation's national targeted detection programme and inviting them to participate. A one-day patient conference on Alpha-1 is taking place this Friday in the Marino Institute of Education in Dublin and will discuss issues such as transplant implications, patient support needs and recent developments on the search for therapies.

One of the 1,200 or so Alpha-1 sufferers in Ireland is Joe Clinton from north Co. Dublin. Joe (61) was diagnosed in 1990 after he presented at Beaumont hospital with a chronic cough.

"The doctor told me I would gradually develop a condition called genetic emphysema. I asked her if that was the same as smokers' disease and she said 'I'm afraid so'," says Joe. The irony for him, he says, is that his father was a heavy smoker with "a horrendous cough" and from an early age, he vowed never to smoke.

From a farming background, Joe's family was also involved in the poultry business on a seasonal basis. "The sheds were not purpose-built and were poorly ventilated. Consequently, I inhaled the very damaging turkey dust over a 20-year period," he says.

His health has been up and down over the past few years but he had to give up his farming work at the age of 48 and has gradually deteriorated from being an active worker and marathon runner to someone who struggles to walk around the block. On the advice of a homoeopathist last year, he gave up all dairy products and noticed a real improvement. But a recent trip to hospital resulted in him picking up a chest infection and he now spends at least 12 hours a day on oxygen.

"I cannot sleep, I find it hard to eat and I'm completely stressed out of my head. I was able to walk several hundred yards but now struggle to walk 20," he says.

That said, Joe knows the importance of having a positive outlook on life. A keen sportsman in his younger days, he says his "obsession" with cricket gives him an enjoyable outlet and he feels the benefits of being outside in the fresh air watching the games in his local club, The Hills, near Skerries, where his son, Joe junior, is captain of the first team.

"Life is still sweet and I continue to enjoy my many varied interests. I continue to get considerable support from my family and friends," he says.
"As with all illnesses, it is vital that I look outside of myself and not get drawn into the very destructive self pity syndrome. As a human being it is strange to say but I feel I am a better person with this illness than without it. But that's a hard one to call."

The Alpha-1 Patient Conference takes place on Friday in the Marino Institute of Education, Dublin.