Madam, – The Irish Heart and Lung Transplant Association, The Irish Lung Fibrosis Association and the Alpha One Foundation wish to respond to Orla Tinsley’s article (Opinion, April 24th). 

Our group has admired her informed and tenacious advocacy on behalf on the Cystic Fibrosis Association in relation to the care and conditions for CF patients in Ireland; however we would like to draw your attention to the work and advocacy of other groups concerned with cardiothoracic transplant issues which have been ongoing for a number of years.

Our group met Minister for Health Mary Harney, her officials and a representative of the HSE on April 21st to discuss and express our grave concern at the current low levels of heart and lung transplant activity in the Mater Hospital. We had a very satisfactory meeting and were encouraged by the Minister’s personal commitment and desire to improve the situation.

In 2001 the Irish Heart and Lung Association wrote to the then Minister for Health, urging the establishment of a formal transplant authority which would be responsible for all aspects of organ donation, procurement and transplant, donor awareness, education, training, registries and allocations. We are now encouraged by Ms Harney’s assurance that such a body is being established in the form of an oversight and regulatory office.

Our group obviously wish to see more transplant activity in the Mater Hospital but we are aware that cardiothoracic organs are not as robust as other organs, resulting in retrieved organs not always been suitable for transplantation. That is a situation common to all transplant programmes world wide. As far as prioritising patients on waiting lists, it is our understanding that this is a clinical decision based on a number of variables such as blood and size matching and of course which patient is most in need.

The Cystic Fibrosis Association is aware that there are other pulmonary patient groups whose members desperately need lung transplantation. Patients who suffer from lung fibrosis, Alpha 1 anti-trypsin deficiency, emphysema or other serious lung disorders all wait for that very special and scarce donation that will release many from the imprisonment of 24-hour oxygen dependency.

We particularly asked the Minister and the HSE at our meeting to examine donor management systems to ensure that they are friendly to the needs of cardiothoracic organ retrieval, and to examine the notification, retrieval and subsequent usage results. We understand that an external review of these and other issues will be undertaken.

As Mater Hospital transplant recipients we are naturally supportive of the National Heart and Lung Transplant Programme in that hospital, however ours is not a blind loyalty and if there are blockages in the retrieval/ notification chain then these must be addressed by both the Mater Hospital and the National Organ Procurement Service in Beaumont Hospital as a matter of urgency.

All of us within the transplant community in Ireland, both individually and through the Irish Donor Network, have worked hard over the years to convince the Government that our country has been left far behind by most of our European neighbours who many years ago implemented procedures, systems, organisational structures and resources (both human and financial) to ensure organ transplantation became a national priority and that donor and transplantation figures were maximised.

Our group will continue its work and will continue to liaise with our colleagues in the Irish Donor Network, the Department of Health and Children and the HSE to advance the interest of all patients on all transplant waiting lists. We believe this to be the best way to achieve our aims. – Yours, etc,

TERRY MANGAN, (Heart transplant recipient) 

European Heart and Lung Transplant Federation, 

Lansdowne Park, 

Templeogue, 

Dublin 16. 

BRENDAN GILLIGAN (Heart transplant recipient) 

Irish Heart and Lung Transplant Association. 

MARY O’CONNOR-BIRD (Lung transplant recipient) 

Irish Lung Fibrosis Association 

LARRY WARREN, 

CEO, Alpha One Foundation. 

This article appeared in the print edition of the Irish Times, Friday, May 1, 2009.

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.