THERE was a sense of hope in the air at the first Amyloidosis conference held in Gaoth Dobhair last weekend where patients suffering from the rare and serious condition heard of emerging new treatments.
The event, fittingly called ‘Emerging from the Shadows’, was organised by ATTR Amyloidosis All Ireland and the Irish Heart Foundation.
Until recently patients suffering with Amyloidosis, which is caused by a build-up of abnormal amyloid or protein deposits in the body, were told there was no treatment available. However the conference heard of improvements in diagnosis, the development of drugs to help with the symptoms of the condition and new treatments currently being trialled.
Rosaline Callaghan from Burt chaired the event and explained how far they have come in terms of treatment.
“When I received the results of my genetic test and it was confirmed in 2007 I was told at that stage, as were many other people, that it was highly unlikely that I would see a treatment in my lifetime and here we are,” she said.
The packed conference room heard from leading professionals in the field from across Ireland on topics including pathways to genetic testing, the importance of raising awareness and the history of the gene known as T60A which is so prevalent in this area it is known as ‘Donegal Amy’,
Jean Christophe Fidalgo, President of Amyloidosis Alliance Europe, spoke about the power of Amyloidosis patient groups and said Ireland is recognised as a key pillar for the international Amyloidosis community.
Professor Sinéad Murphy, Consultant Neurologist at Tallaght Hospital, Dublin, spoke about the disease and the autonomic nervous system and ways patients can ease symptoms including pacing yourself, keeping active but not overdoing it and some lifestyle changes.
Professor Emer Joyce, Consultant Cardiologist at the Mater Hospital in Dublin, said it is now much easier to find Amyloidosis. She said no diagnosis is not acceptable for anyone.
Professor Julian Gilmore, Head of the National Amyloidosis Centre in London, Chris Macey, Director of Advocacy at the Irish Heart Foundation and Rosaline Callaghan, ATTR All Ireland Group at the Amyloidosis Conference.
Professor Julian Gilmore, Head of the National Amyloidosis Centre in London spoke about the dawn of new treatments.
“All the treatments that we have at the moment are designed to reduce the rate of amyloid formation,” said Professor Gilmore.
“The aim is to reduce the rate of amyloid formation so hopefully a patient is getting rid of their amyloid more quickly than they are making it.
“It wasn’t very long ago that we had nothing to reduce the concentration of TTR (the protein) in the bloodstream so there was no treatment for this condition.”
Professor Gilmore spoke about the success of the gene-silencing drug Patisiran which was approved by the HSE last year.
“What you can expect with Patisiran is the disease will stabilise, it will stop getting worse. Particularly if patients are treated early and I think this really highlights the importance of diagnosing patients at an early stage of disease when they don’t have severe neuropathy (damage to the nerves).”
The downside to Patisrian is that the patient has to receive it every three weeks by intravenous infusion.
Professor Gilmore also spoke about the positive results of the gene editing drug CRISPR which allows scientists to make very precise changes in DNA.
Gene editing is particularly attractive because it can significantly reduce the production levels of the abnormal protein in the body with a single infusion that does not need to be repeated.
“There are a lot of trials going on. At the moment we try and stop amyloid formation but what we would like to do is stop amyloid formation but also accelerate amyloid removal and that is the holy grail. If we could attack both ends that would be wonderful,” he said.
“It is fantastic that Patisiran has been approved and it is thanks to many of you here.
“I think there will be more and more therapies and options for patients with this disease. In the next ten years we are likely to see drugs that will not only stop reduction but will accelerate removal of TTR amyloidosis.”
Other speakers on the day included Chris Macey, Director of Advocacy at the Irish Heart Foundation; Dr Sinead Hughes, Consultant Cardiologist, Altnagelvin Hospital, Derry; Professor Aisling Ryan, Consultant Neurologist, University College Hospital Cork; Dr Mark Coyle, Consultant Haematologist, Belfast; Carlos Heras-Palou, President of the UK ATTR Amyloidosis Patients Association; Sandra Campbell, Director of Northern Ireland Rare Disease Group and Professor Mary Reilly, Consultant Neurologist, Queen’s University College, London.
Speaking to the Donegal News after the event Evelyn Cunningham from Letterkenny, one of the organisers of the conference, said it was a huge success.
“We are really happy it turned out to be such a wonderful event. We are so grateful to all the top experts that travelled here to speak and share their expertise.
“With the emergence of the new treatments we are coming out of the darkness into the light.
“There wasn’t much hope two or three years ago so the landscape has changed dramatically now for people.”
Evelyn lost her mother in June 2017 to the disease after a long battle to try and get a diagnosis. Her mother Evelyn was only diagnosed with Amyloidosis a month before her death.
Evelyn said it is so nice to now hear positive stories of people starting their treatments and that there is hope going forward.
Barbara McBride attended the Amyloidosis conference in An Chúirt Hotel last weekend and said she was very excited to begin her treatment.
Milford woman among first in Ireland to receive life-changing drug Patisiran
A WOMAN from Milford who has cardiac Amyloidosis has become the fourth person in Ireland to receive the life-changing drug Patisiran.
Barbara McBride attended the Amyloidosis conference in An Chúirt Hotel recently and said she was very excited to begin her treatment. In Tallaght Hospital in Dublin she will receive the first three intravenous infusions over a three week period. She will then receive the treatment at home every three weeks for the rest of her life.
“At the beginning I was told no cure, no treatment. That was the way it was,” said Barbara.
“To go from no cure no treatment to where we are today with the choices, it’s exciting times.”
Barbara’s journey began in 2017 when she was in hospital for an ankle replacement. Her blood pressure was high and a cardiologist was called in to investigate further. After suffering a heart attack she travelled up and down to Dublin for tests. Eventually she was sent to Blackrock Clinic for a cardiac MRI and in December 2017 she was called back for the results.
“They said the patient is in the advanced stages of cardiac Amyloidosis. The doctor sent me over to the Amyloidosis centre in London and they did all the tests and they confirmed everything.”
In London Professor Julian Gilmore put her on a drug to help with her neuropathy as she had very bad pins and needles in her hands and feet. Before receiving treatment Barbara said she was extremely tired and breathless.
“Just to put on moisturiser wore you out, to put on your clothes wore you out. I would have to sit down after putting my clothes on. You were totally drained,” she said.
“I got my life back again. I was able to walk again without being breathless. I could do things again.
“I seem to be going on a downwards slope again so that is why the doctor put me forward for Patisiran.”
Hereditary Amyloidosis is passed down from generation to generation. Barbara is one of six siblings and she feels lucky that just two of the family have the disease, herself and her sister.
Mary McAnea from St Johnston was diagnosed with two other heart conditions before she was correctly diagnosed with Amyloidosis.
A long journey for diagnosis
DELAYS in diagnosing Amyloidosis are common because the symptoms can be confused with numerous other conditions. Mary McAnea from St Johnston experienced this first hand after she was diagnosed with two other heart conditions before she was correctly diagnosed with Amyloidosis.
Mary first took unwell with breathlessness in 2011 and travelled to Dublin for an angiogram. She went into hospital as she had a pain in her chest and the next morning she had a stint put in. For six years after this she was feeling ok but the breathlessness returned and she sought medical help again.
“About five years ago I was in Donegal and I took palpitations, I had a really fast heart rate and went to Letterkenny. They sent me to Dublin to get it stabilised.
“I was still very out of breath and they sent me to Blackrock Clinic for an MRI. Every time I went to the doctors they sent me to the hospital. I was in the few days and back out again, they did bloods but it was from pillar to post between heart and lungs.”
After being sent between Dublin and Galway for tests Mary was initially diagnosed with Hypertrophic cardiomyopathy (HCM). She was told to inform her family as the condition is hereditary and is associated with sudden death syndrome.
“I got my medication and I was glad of a diagnosis. I went home, took my medicine and I still didn’t feel well at all. I was sleeping sitting up but I didn’t want to go back and say that they were wrong.
“I slept in a chair for two years.”
Eventually Mary went back to the doctor and after more tests they ruled out that her lungs were the problem and focused again on the heart.
Last June she was sent for another MRI scan and was told that she had a mass on her heart and that it was cancer. However after a doctor pushed for more tests to be carried out in Dublin she finally was correctly diagnosed with Amyloidosis in the Mater Hospital in Dublin.
“Because I was misdiagnosed I had to come off medication. I had to tell family it wasn’t HCM but it was Amyloidosis,” said Mary.
On April 1 Mary went for her first treatment of Patisiran and was the first person in Donegal to receive it.
It has been a long road to get treatment and she praised the ATTR Amyloidosis All Ireland group for the support they have given her through her journey.
“The association provided the best support, they were my lifeline. It gave me that hope.
“I am just happy I have a proper diagnosis. I do feel very happy knowing and at least my family will have a chance.
“It keeps you going to know what it is and there are treatments.”
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