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Science Changes Lives: Medical trial is saving me from illness that took my two sisters

A genetic test pinpointed a destructive lung condition in Michael McNamee’s family – now experimental medicine is helping him to beat the odds.

MICHAEL McNAMEE is looking forward to meeting the newest member of his family.

“My first grandchild is due in the beginning of November,” he says.

His daughter, Catriona, lives in New York so he won’t get to spoil the baby as much as he would like but even short visits are a lot better than what could have been.

“By looking at my family, I probably wouldn’t be here right now,” says McNamee who has lost three of his siblings to a destructive lung disease. When his brother died, his family was tested for the genetic condition, Alpha-1. The blood tests were sent to the United States and four months later McNamee and four of his sisters got bad news. “We would have been one of the worst cases.”

Missing protein

Alpha-1 Antitrypsin Deficiency which is commonly known as Alpha-1 is an inherited condition which results in the most severe form of hereditary emphysema which is a lung disease. Alpha-1 Antitrypsin is an important protein produced by the liver, from where it is released into the bloodstream and travels to the lungs to protect them from disease.

McNamee and other people with Alpha-1 have a mutation in one or both of the genes that produce this protein. This leads to chronic lung disease.

In the past ten years, two of McNamee’s sisters have died following their diagnosis while another who is seven years younger than him is on the lung transplant list. One sister who never smoked is in good health.

McNamee was the only one in his family to be selected for a trial being conducted by the Royal College of Surgeons in Ireland (RCSI).

Innovative treatment

“Before I went on the trial, I was getting infections every couple of weeks,” says the family man. The treatment has slowed down the progression of his lung disease. “I’m not much worse than I was six or seven years ago.”

_DSC9730 Scientist at work in the RSCI Respiratory Research Laboratories in Beaumont Hospital where much of the Alpha-1 research is carried out. Source: Ray Lohan/RCSI

Gerry McElvaney, professor of medicine at RCSI, has been researching this condition for a number of years. He says that “one way of treating [the condition] is by giving patients Alpha-1 that is purified from other individuals.”

People who do not have the mutation give blood and the Alpha-1 protein can be purified from it.

This was the treatment McNamee has been given for the past eight years. During the trial period, giving intravenous Alpha-1 once a week resulted in better outcomes for patients compared to those on a placebo.

The innovative treatment has “now been shown to work clinically”, says McElvaney.

Does this mean we’ve cured it? No, but it does mean that we’ve probably slowed it down.

High Irish incidence

There are different forms of Alpha-1 with more than 2,000 people having the severe form in Ireland. McElvaney explains that “up until recently, it was felt that people who only carried one bad gene did not have any risk factors”. RCSI’s research showed that people who inherit Alpha-1 from one parent have an increased risk of lung disease if they smoke.

It is unknown how many people are affected by this milder form but the Irish Alpha One Foundation say this could be as many as 300,000.

Unfortunately, the McNamee family did not know of this risk and most of them smoked before discovering they had Alpha-1.

“Thankfully, I’m on the treatment,” says the grandfather-to-be who can’t wait for the arrival of an American baby… “No! An Irish baby!”

THIS IS THE fourth in a series of articles which explore the impact that science and research is having on real people’s lives in Ireland.

From a pacemaker which keeps an athlete’s heart beating to an activist who has gone from being born deaf to being able to talk on the phone for the first time, we focus on five individuals for whom innovative technology is having a profound effect.

The series is inspired by the story of adventurer Mark Pollock’s bid to walk again through cutting-edge research and tech advances. His journey will be revealed in the feature documentary, Unbreakable: The Mark Pollock Film, due for release in Ireland this October.

As part of the release the film will be touring the country promoting science in association with the Science Foundation Ireland.

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Maria Delaney

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