Woman with rare condition urges people to ‘Love Your Lungs’
A Cavan woman diagnosed with an incredibly rare genetic condition attacking her lungs has spoken of the fear of going to bed and "wondering would morning ever come".
Alpha-1 antitrypsin deficiency can cause lung, liver, and skin disease, and often leads to Chronic Obstructive Pulmonary Disease or COPD. For Rose McGrath Alpha-1 has impacted her lungs, and up until a team of specialist doctors led by Professor Noel McElvaney correctly diagnosed it, she had been treated simply for repeated flare ups of what was presumed to be asthma.
Speaking as part of the ‘Love Your Lungs’ campaign, marking World Lung Day on Sunday, September 25, the mum-of-four and grandmother to 10 explained how she had been "sick for years", but her GP like 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 more siblings also. Three others were identified as carriers of the Alpha-1 gene but did not suffer from the potentially life-changing effects it can bring about.
The Butlersbridge woman was debilitated by Alpha-1 that she had to give up work as a chef in the kitchen in the Farnham Arms Hotel. "I couldn’t get from the chair to the bathroom without huffing and puffing," she recalls.
By 2006, Rose and Oliver were among just 21 Alpha-1 patients identified nationwide to take part in an experimental drug trial.
Rose describes the tightness in her chest she felt before being prescribed ‘Reprezza’.
"It’s a horrible feeling. You’d wake up, not fit to breathe. You’d feel as if you’re smothering, and especially at night time, you’d be lying there wondering would morning ever come or will I still be alive to see it."
The trial continued for more than a year. Oliver was given access to the drug, and Rose, unbeknownst to her, as part of the overall test group, was not. But so transformative were the effects of the medication that it didn’t take long for the siblings to figure out the disparity.
"We could tell, because he was getting so much better and I was getting worse," remembers Rose.
After, all 21 began receiving the therapy for over 10 years on a "compassionate-use basis".
The development came as a huge relief to Rose and the others. Regrettably two of the original 21 patients died while off the treatment in 2017 when the supply and administration of the therapy was stopped for six weeks after the HSE failed to reach an agreement with the manufacturers CSL Behring.
This was reinstated soon after, though only for the remaining 19, and does not include any persons diagnosed with the condition outside of that group.
On her last visit to Beaumont, Rose was informed there could be as many as 60 more new cases identified in Ireland since, and feels it's unfair they should be "excluded" from this potentially "life-changing" course of treatment.
With World Lung Day on the horizon, Rose meanwhile is urging the public to take steps to protect their lung health into the future – by getting vaccinated against the flu, pneumonia and COVID-19, by quitting smoking, by limiting exposure to air pollution, by eating a balanced diet and by being physically active.
The campaign is an initiative of the Irish Lung Health Alliance, a coalition of charities working to promote healthy lungs which includes the Alpha-1 Foundation Ireland, the Asthma Society of Ireland, COPD Support Ireland, Cystic Fibrosis Ireland, the Irish Cancer Society, the Irish Lung Fibrosis Association and the Irish Thoracic Society.