Three cousins have come together to raise awareness of amyloidosis, known as the ‘Donegal Disease’ and to press the Health Service Executive to fund a new life-saving drug treatment for patients.
The ATTR Amyloidosis Ireland Support Group was launched on 1 May, and already has 90 members.
In addition to lobbying for the approval of the new drug, the group aims to raise awareness amongst the public about the disease and provide support for families affected by it.
Cousins Jennifer Doherty from Buncrana, James Green from Letterkenny and Rosaline Callaghan from Derry are amongst the founder members of the support group and have seen family members taken by amyloidosis.
Speaking with the Inishowen Independent in May, Jennifer Doherty described how her father Stephen passed away in November 2017 from the disease at the age of just 58. Stephen’s mother Polly died from the disease in 1982, also aged 58 and her brother Hugh Callaghan, Rosaline’s father, died with disease in 1998.
“It’s nearly like a pandemic within the family,” Jennifer said.
“My grandmother died from this disease in 1982, and no one at the time had any idea what was wrong with her.
“It wasn’t until Dr Mary Reilly from the Royal Free Hospital in London contacted the family in 1986 that we first heard the word ‘amyloidosis’.”
Rosaline Callaghan agrees that it’s akin to a pandemic within families.
Having seen what it can do to other family members, and her father, she is grateful the treatment is available to her because she lives in Northern Ireland but she says she cannot be truly happy because that same treatment isn’t yet available over the border in the Republic.
Amyloidosis is caused by the build-up of an abnormal protein in the body’s tissues and organs. It causes heart failure and nerve damage leading to paralysis, incontinence and muscle wasting, and it severely impairs all aspects of daily life.
There are many different types of amyloidosis, and this group has been established to deal with ATTR, which is hereditary, and wild type amyloidosis.
Raising awareness of the disease amongst the public and also the medical profession, is one of the support group’s objectives.
“Daddy was misdiagnosed for years before they finally hit upon amyloidosis,” Jennifer says.
“In fact, doctors in London say that it takes on average four years for a diagnosis to be arrived at.
“The symptoms of amyloidosis mimic so many other diseases that they are investigated first, and amyloidosis simply isn’t on doctors’.”
Sometimes referred to as ‘Donegal Amy’ (or ‘Irish Amy’ overseas), researchers studying the disease discovered the mutated gene has been passed down the generations in families from the county, many of whom emigrated and settled in the United States and Britain. Parents have a 50/50 chance of passing on the mutated gene to their children.
Today, the disease doesn’t need to be a death sentence. A new drug, called Patisiran, was developed by Alnylam Pharmaceuticals, a small biopharmaceutical company based in the US state of Massachusetts.
Patisiran, was approved by the European Medicines Agency and the American Food and Drug Administration in 2018.
The breakthrough drug silences the mutated gene. And it doesn’t just stop the progress of the disease but can also reverse the damage already caused by it in a patient.
World-renowned experts on the treatment of amyloidosis are emphatic in describing the benefits of this new drug on a previously untreatable disease.
‘’In stopping or even reversing the disease, Patisiran has revolutionised the lives of patients with hereditary transthyretin amyloidosis who no longer need to suffer the constant pain, indignity and complete lack of hope that has devastated them and their families for decades,” said Professor Julian Gillmore, Head of the Centre for Amyloidosis & Acute Phase Proteins at London’s Royal Free Hospital and the research lead at Britain’s National Amyloidosis Centre.
Patisiran has been available through Britain’s National Health Service since August 2019, and on application through health boards in Northern Ireland since last November.
The Health Service Executive has turned down a request to make the drug available in the Republic, saying the annual per patient cost of €330,000 was not ‘cost effective’.
The National Centre for Pharmacoeconomics said the costs would be approximately €18.4 million after five years. That’s 0.001% the overall €17.4 billion budget allocated to the Department of Health for 2020.
“There was no hope and no drug that would have treated my daddy back in 2017, but there is now – and it’s gut-wrenching to think that it wouldn’t be provided for people that need it.” Jennifer says.
“It really is a game-changing treatment,” Jennifer Doherty emphasises. “What used to be a fatal disease can now be treated.
“And it’s a great cause of optimism for future generations.
“The HSE group that examined the drug said it wasn’t cost effective.
“But when you put the cost of care for someone who spends years going in and out of hospital for appointment and treatments, you’ll find it is effective.
“And that’s not to talk about the pain the patient endures.
“It’s a very cruel disease that takes away your quality of life.
“My father lost the power in his legs, the disease caused his muscles to just waste away.
“He was confined to the front room of our house for years.
“Other than for this mutated gene, he had no other illnesses.
“He always said he was the healthiest dying man.
“But the disease killed him in the same way as it killed his mother, my granny, and her brother.”
While the focus is on gaining approval for this breakthrough drug, the support group says it will also work towards developing a screening programme.
Jennifer has had a screening test for the gene, but even that proved something of an ordeal.
Ireland doesn’t carry out its own genetic screening and samples are sent to London for analysis. In Jennifer’s case, she waited for the best part of two years to get an appointment at Crumlin hospital, and then had 24 hours’ notice of a cancellation. Her results took five months, and happily for her she does not carry the offending gene.
By comparison, someone living north of the border can expect a six week turnaround from a blood test taken by their GP and sent directly to London.
“These delays are very stressful,” she says.
“I was 29 when I got the test, so in some respects time was on my side.
“But knowing that the onset of disease comes to light in your late 40s and 50s, not everyone has the luxury of time.
“Early screening, particularly for people who know amyloidosis is in their family, is vital. And having to wait around for years isn’t good enough.
“Patients need the help today, not tomorrow.
“Sadly, a man passed away from the disease last Christmas Day, and more will follow unless we can get this drug approved for use here.
“There’s hope there now that wasn’t there before and it’s just horrible thinking that people are dying when there’s a treatment available.”
Mindful of the delays that his cousin Jennifer faced while going through Crumlin Hospital, James Green says that he contacted the Royal Free Hospital and arranged to have his genetic screening carried out through his local GP.
“I’ve spoken with the Royal Free Hospital in London, and with things locked down from covid-19 and travel being discouraged, they’ve arranged to get my sample taken through my GP and they’ll analyse it,” Mr Green said.
“I’ve had to do that privately, but the cost isn’t prohibitive and at any rate early detection is crucial.
“I expect to have the results within three months.
“It’s a bit daunting, it’s always something that’s been at the back of my mind when I’d have an ailment and you want to know whether you carry the gene.
“With Patisiran now available, it’s probably less of a worry that it might have been before because there is a treatment.
“I had some preliminary tests carried out at the Mater Hospital in Dublin last year and they came back good, and hopefully before the end of the summer I’ll have the results from this.”
The support group estimates that around 20 people have the hereditary strain of amyloidosis in counties Donegal and Sligo, with a further 10-15 living elsewhere in the Republic.
Screening will be a necessary step in the future, it says, but for now the group’s focus is on securing HSE approval for the drug and on building awareness of the disease, particularly in Donegal where it is most prevalent.
People can contact the group through their Facebook page, search for ATTR Amyloidosis Ireland Support Group, or email Rosaline Callaghan – firstname.lastname@example.org