Lorraine Doherty hopes other sufferers of genetic emphysema won’t die, as her mother did, last year, because of the HSE’s refusal to pay for drugs, writes Health Correspondent Catherine Shanahan
Anna Cassidy drove a tractor and did as much work as any man on the small family farm in Mullinbuoys, Mountcharles, Co Donegal.
She and her husband, Alan, were tight-knit. “They did everything together,” says their daughter, Lorraine Doherty.
Lorraine idolised her mum, and, as an only child, her mother was “a wee bit more precious”.
Anna’s death, at age 68, was devastating.
Anna was not a woman to draw attention to herself, but she made headlines in her final weeks, as she struggled to access a drug, Respreeza, which had sustained her for many years.
There was a disagreement between the HSE and CSL Behring, the manufacturer of Respreeza, over who should cover the cost of administering the drug to 21 people.
Seven weeks after losing access to the drug, and as the row over payment rumbled on, Anna succumbed to her illness.
Anna hadn’t been in great form in the year prior to her death. Because of genetic emphysema, a chronic lung disease, getting up and getting dressed sapped her energy and she had to take a break before sitting down to breakfast.
Her husband had “rapidly become her carer”, Lorraine says, and spent a lot of time in the house helping her out.
Before her diagnosis, in her mid-40s, she was very physically active and was always out and about, helping her husband.
As a nurse, she had also worked part-time outside the home, and was a carer in a nursing home, before her illness forced her into early retirement.
Around the age of 44, Anna developed rapid onset asthma. She found herself out of breath, even when walking up a very gradual slope.
Her local GP referred her to Beaumont Hospital, to consultant respiratory physician, Professor Gerry McElvaney. She was diagnosed with Alpha one antitrypsin deficiency.
Alpha-1 antitrysin (AAT) is a protein produced by the liver, which is released into the bloodstream and travels to the lungs.
The Irish Thoracic Society (ITS) says it “protects the lungs from the destructive actions of common illnesses and exposures, particularly tobacco smoke”.
Those who are deficient in it — as Anna was — are not afforded the same protection.
Lung-tissue damage ensues, and it’s irreversible. Liver damage is also a risk. The ITS says Alpha-1, an inherited disorder, is “massively under-diagnosed”.
Ireland has one of the highest incidences in the world. Over 2,000 Irish people have severe Alpha-1 and 200,000 are carriers.
Unfortunately for Anna, she was diagnosed with the most severe form of Alpha-1. She was also a smoker. Lorraine recalls one particularly traumatic incident. It was in 2003, before Anna went on Respreeza.
“She was outside, giving Dad a hand and she started to feel really bad. She had to go back to the house.
“Later on in the evening, when Dad came home, he found the whole place in darkness. He could hear this awful, loud wheezing.”
“Mum coughed and her lung collapsed,” Lorraine says.
Anna spent the next 14 weeks in Beaumont Hospital, during which time 11 chest drains were inserted to drain air from around the lungs.
Anna underwent a number of procedures to re-inflate her lung.
“They even tried sticking it to her rib cage,” Lorraine says. Eventually, her lung was re-inflated, but, from then on, she was never without oxygen.
“My oldest child, Emily, is 13, and she had never seen her grandmother without oxygen,” Lorraine says.
As Anna’s illness progressed, she had to be hospitalised with chest infections two to three times a year, for two to three weeks at a time. She found it very hard to shake the infections.
Then, in 2007, she was offered the chance to take part in a clinical trial, at Beaumont Hospital, to test the efficacy and safety of a drug that could potentially improve the lot of Alpha-1 sufferers.
“I’m up for it, if I can be of any use,” was Anna’s response, when she was invited to participate. Lorraine says that from the time Anna went on Respreeza, “it made such a difference”.
“My mum was on Resprezza for 11 years, until it was withdrawn on September 30, 2017.
“During her time on the drug, her lung-function tests remained constant, mobility remained consistent, and admissions to hospital were reduced from two to three times a year to a maximum of once a year.
“Overall, she experienced a reasonably good quality of life. The drug worked.”
In an interview with the Donegal News, in February of last year, Anna herself said:
Lorraine, who lives on the Inishowen Peninsula, in Co Donegal, says her mother was initially on a drug called Zemaria and later Respreeza. It was administered by infusion once a week.
She was conscious that the trial was a long-term research project that could yield benefits both to her and to future generations with Alpha-1.
“Professor McElvaney would come on his rounds with junior doctors and he would ask if she would mind fielding a few questions. She never said no. She felt that the more people knew about the condition, the more beneficial it would be for everyone.
“They used to time the junior doctor rounds to coincide with her time in the hospital.
“She never told them she was a nurse, because she wanted to be treated the same as everyone else,” Lorraine says.
The Respreeza trial ended over a year ago. CSL Behring continued to make the drug available to trial participants, under a compassionate-use programme.
In the background, the company was negotiating with the HSE to have it included in the State’s drug-reimbursement programme — it costs €66,000 per annum, per patient.
CSL had assumed it would be reimbursed, as Respreeza had been licensed by the European Medicines Agency, but the HSE rejected it on cost grounds and questioned its efficacy, even though the trial had shown it was successful in slowing down the progression of genetic emphysema.
“My mum tirelessly wrote letters and emails, to TDs, the Minister for Health, Simon Harris, as did her granddaughter.
“She contacted radio stations, all to raise public awareness, in the hope of a positive outcome and continued access to this drug.
“In an interview with the Donegal People newspaper, last February, she said she feared for her future, if the drug was withdrawn. ‘The chances are my condition would deteriorate very, very quickly’,” she said.
At the end of September, 2017, Anna lost access to the drug, when CSL announced it was no longer prepared to cover the cost of weekly infusions. The HSE also refused to pick up the tab.
Over the next number of weeks, the drug sat in a warehouse, during which time some Alpha-1 patients felt their health deteriorate significantly.
For two women, Anna Cassidy, and Marion Kelly, aged 53, from Tipperary, the deterioration was rapid and catastrophic; they died within a fortnight of each other.
Anna passed away on November 18, “gasping for breath”; and Marion on December 1.
Within 24 hours of Marion’s death, the HSE agreed to pay for the administration of Respreeza.
Lorraine says her mother fought for her own life and the lives of other Alpha-1 patients, right to the end, but that, “day to day, you could see a massive difference [in her] from the time the drug was withdrawn.”
“She was on three courses of antibiotics, before she was admitted to Letterkenny Hospital, in the days before she died,”Lorraine says.
Anna’s fight for life, and for the State to reimburse Respreeza, is especially poignant, when she knew her own daughter was an Alpha-1 carrier.
“She apologised to me, after she was diagnosed and I was diagnosed as a carrier,” Lorraine says.
“Because she had the most severe form of the disease, I am open to developing it.”
Lorraine remains positive and takes precautions, such as avoiding smoky atmospheres and getting the flu jab, to protect damage to her lungs.
“If you know early, you can take precautions and can live a longer, healthier life,” she says.
Anna leaves behind a brother, a sister, a husband, a daughter, a son-in-law, and three grandchildren, Emily, 13, Simon, 11,, and Zoe, 10.
“It’s never easy to lose a loved one. It has been more difficult, because of the circumstances we found ourselves in,” Lorraine says.
“The last month was exceptionally difficult for mum.
“Mum strongly believed that, instead of being withdrawn, Respreeza should have been made available to more people, particularly those who are young or newly diagnosed.
“Alpha-1 isn’t just an older person’s disease.
“I do hope mum didn’t die in vain.”
Currently, the remaining Alpha-1 patients who were part of the 10-year Respreeza trial continue to have access to the drug, until a new clinical trial starts, later this year.
However, CSL anticipates that just half of the current access group will be recruited.
This suggests the remaining cohort will have no access to Repreeza from around next June. Alpha-1 patients are continuing to campaign for the State to reimburse the drug.
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