A Cavan woman who was diagnosed with an incredibly rare genetic condition that attacks her lungs spoke of being afraid to go to bed and “I wonder if mornings will ever come.”
Alpha-1-antitrypsin deficiency can cause lung, liver, and skin disease, often resulting in COPD or COPD. As for Rose McGrath Alpha-1, it affected her lungs, and until a team of medical professionals led by Professor Noel McElphany correctly diagnosed it, she was simply treated for the recurring attacks of what was supposed to be her asthma.
Speaking as part of the “Love Your Lungs” campaign, marking World Lung Day on Sunday, September 25, a mother of four and grandmother of 10 explained how she had been “sick for years”, but her GP like the others “knew no better and knew nothing about Alpha- 1”.
It was Rose’s brother Oliver Martin who was first diagnosed as an Alpha-1 carrier in 2005, followed by Rose, and two other brothers as well. Three others were identified as carriers of the Alpha-1 gene but did not suffer the life-altering effects it could have.
The Battlesbridge woman was so debilitated by Alpha-1 that she had to give up working as a kitchen chef at the Farnham Arms Hotel. “I couldn’t move from the chair to the bathroom without blowing and blowing,” she recalls.
By 2006, Rose and Oliver were among only 21 alpha-1 patients identified nationwide to participate in an experimental drug trial.
Rose describes the tightness she felt in her chest before she was called “Reprezza.”
“It feels awful. You’ll wake up, I’m not fit to breathe. You’ll feel as if you’re suffocating, and especially at night, you’ll just lie there wondering whether morning will come or I’ll also be alive to see her.”
The trial lasted for more than a year. Oliver was given access to the drug, and Rose, without her knowledge, was not part of the overall testing group. But the drug’s effects were so transformative that it didn’t take the siblings long to learn the contrast.
“We can tell, because he was getting a lot better and I was getting worse,” Rose recalls.
Subsequently, all 21-year-olds began receiving treatment for more than 10 years on a ‘compassionate use basis’.
The development came as a huge relief to Rose and the others. Unfortunately, two of the original 21 patients died while discontinuing treatment in 2017 when the provision and administration of the treatment was discontinued for six weeks after HSE failed to reach an agreement with manufacturers CSL Behring.
This was brought back shortly after, although it was only for the remaining 19, and does not include anyone diagnosed with the condition outside of that group.
On her recent visit to Beaumont, Rose was told there could be as many as 60 new cases identified in Ireland since then, and feels it is unfair that they should be “excluded” from a potentially “life-changing” course of treatment.
With World Lung Day on the horizon, Rose is simultaneously urging the public to take steps to protect their lung health in the future – by vaccinating against influenza, pneumonia and COVID-19, by quitting smoking, by reducing exposure to air pollution, and by Through a balanced diet and physical activity.
The campaign is an initiative of the Irish Lung Health Alliance, an alliance of charities working to promote the health of the lungs that includes the Alpha-1 Foundation in Ireland, Asthma Society in Ireland, COPD Support Ireland and Cystic Fibrosis. Ireland), the Irish Cancer Society, the Irish Lung Cirrhosis Society and the Irish Thoracic Society.