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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.”
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.
Science Changes Lives:
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Watching videos of these kind of jumps gives me the heebijeebies. At least he went doing something he loved, poor guy.
Funny how they never say that about people who O.D. on heroin.
Maybe that’s because they don’t really love what they’re doing?
I want the video released to show other people the dangers involved.
I think a heroin overdose would be a much more pleasant way to die than smashing into the side of a jagged cliff face and tumbling to your death.
He died doing something he loved? He loved slamming into the ground at high speed?
The heavenliest signed crusader :’(
he was a daredevil , he loved the thrill and adrenaline it gave him . that’s what he loved , nobody is taking about slamming to the ground .
I’m surprised no one’s mentioned Darwin yet
The heavenliest winged crusader :’(
Ultimately you have a responsibility to the ones that love you, to not purposely put yourself in harms way. So you don’t put them in an awful situation should things go wrong. Having said that, im not judging this guy, rip.
If this was some kid who blew his brain out playing Russian Roulette everyone here would be shouting Darwin Awards, but because this kid is perceived as somehow brave, his death is seen as heroic. He was young with his life ahead of him, now he’s dead. Nothing heroic about it, maybe some sort of misguided bravery, but ultimately a tragic waste of life.
Wow Suzie, you clearly don’t get sarcasm…
It must have been his massive balls that dragged him down. A very brave man.
How is that bravery? It’s stupidity that’s what it is. Bravery is when you jump to rescue someone or to find help because your all stranded on the mountain etc etc. That’s bravery. Climbing the likes of Everest isn’t bravery it’s stupidity and nothing more than thrill seeking at that.
What a beautiful perspective.
Stephen,
You can die crossing a road. Is it stupid to cross a road? Bottom line is you need to be massively brave to fly a wing suit.
They have studied such people and it isn’t bravery. They literally don’t feel fear like other people so it is just like being tall you are born like that.
The same way others are hyper fearful.
Another guy doing things that I would never have the balls to do is Mustang. A Ukrainian guy that hangs off high buildings with 1 hand. Some people say stupid but I have to admire people like them. https://youtu.be/kpS7vhvkIQM
Nobody’s thrill searching when they cross a road. We need to cross roads daily as a necessity in life. It is NOT neccesary to jump Into a wing suit and go down a mountain. It’s thrill seeking and I don’t begrudge people thrill seeking we all do it with something but in my eyes climbing Everest or jumping from a mountain in a wing suit is tad bit over the top and enters the realm of stupidity and that of thrill seeking and certainly not a brave thing to do, it’s an action that at its root is egotistical and serves no purpose. “I’m gonna jump from Eiffel Tower here for no reason at all and put my own life and thAt of others in danger for the craic” THAT is not bravery.
You’re right Stephen he wasn’t one bit brave just decided to be cool look at me, and now I’m dead, moral of the story attention seeking doesn’t always work out the way you planned?
He’s dead now, too, Monty.
To each their own my friend. What’s stupidity to you is euphoria, ambition & achievement to others. And if that’s what they want to do with their lives, that’s their prerogative & their right. It’s very sad that it sometimes ends like this but they know the risks & choose to take them because they want to. That’s living, even if it sometimes ends in death.
Jesus Christ Stephen. You always were a boring sap.
Boring doctor or just been realistic?, the guy died because he took a risk, doesn’t make him a hero?
It was an April fool.. he’s still alive as far as I know.
Being afraid of doing something but doing it anyway is bravery. Doing something dangerous that doesn’t scare you is fearlessness.
or attention seeking because nobody asked you to do it?
Is it not braver to do something you fear? Obviously that man had no fear.
Fine Rossa he done it because he was fearless but at the same time been selfish to the concerns of others around him just to prove he’s brave?, dead now and people are grieving why?.
Fine the grim reaper has a time for us all, if a ten ton truck slams me against a wall in the morning well I was in the wrong place at the wrong time, but I have no intention of cutting my life short by been a hero.
Cigarettes and alcohol will probably kill me eventually well the doctor will blame cigarettes and alcohol anyway regardless?.
@eminent re:mustang not this guy, obviously
How enlightening, thanks for filling me in.
live by the wingsuit, die by the wingsuit.
12pm European time, is not 11pm Irish time!
it’s dangerous enough during daylight!
12pm is meaningless anyway. 12 noon is neither before (am) nor after (pm) noon and midnight is both before and after noon?
Tom, by convention 12 noon is 12 pm. Midnight is 12 am.
Derek. am and pm are ante-meridiem and post-meridiem, i.e. before and after the sun crosses the ‘line’, respectively. Official authorities (e.g. Royal Observatory) suggest 12pm not be used. We should either use the unambiguous 24 hour clock or use “12 noon”. I have seen 12pm used with the meaning you suggest but don’t know where it came frm (USA, perhaps?)
1/60 base/wing suit jumpers in Switzerland meet this faith! It is incredible to see these lads push the limits of what humans can do and having the balls to do it
It’s 1 in 5 globally
On a wing and a prayer, RIP.
Bravery is publicly contradicting yourself in the comments section on the journal.ie
No its not!
Actually, sorry I was wrong. Yes it is….
Stupid way to die
@Dermot…….tell us all what’s a good way to die so………..
In your sleep?
In your world Gerry is ‘good’ the opposite of ‘stupid’?
Needs to be banned. Some people just too stupid for their own good. Your life is precious. Throwing it away like this is simply beyond ridiculous.
Your life is surely yours to do with it as you please. Dogging is probably dangerous for people with dodgy tickers, but if people want to participate in that kind of activity who are we to say they shouldn’t?
Poor guy, Rip may God have mercy on his soul. X
I feel terrible for the family and friends he left behind. This was a needless death and never should’ve happened.
Did young leave a good looking corpse….
Whilst unfortunately you continue to live making spelling mistakes where ever your grim sense of humor takes you
Moron
John … *wherever *humour
“11pm Irish time”
very strange way to die
Should of drank red bull it gaves you Winnggggggssssss
It’s only a matter of time before the GoPro footage from his jump will be on Liveleak
how strange
Who the fluk is johnny strange….strange name
mercury strikes again
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