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18 Aug 2022

Amyloidosis... 'speedy diagnosis and treatment at earliest opportunity' needed - says Derry sufferer

Altnagelvin consultant to address international conference

Amyloidosis... 'speedy diagnosis and treatment at earliest opportunity' needed  - says Derry sufferer

Rosaline Callaghan, suffering from Amyloidosis.

Speedy diagnosis and access to treatment for the life-threatening illness Amyloidosis is needed, a Derry woman suffering from the disease has said.

Rosaline Callaghan was speaking ahead of a major international conference on the condition to be addressed by Dr Sinead Hughes, a consultant cardiologist in Derry's Altnagelvin Hospital.

Amyloidosis is a rare and serious condition which affects the heart, digestive and nervous systems.

Dr Hughes will be speaking about the history of the T60A gene, a particular form of hereditary Amyloidosis, which is prevalent to 25 kilometres of the north west coast of Donegal. It is sometimes known as ‘Donegal Amy.’ Wild-type amyloidosis is another form of the disease.

The conference, titled 'Emerging from the Shadows,' is being organised by the ATTR Amyloidosis All Ireland Support Group and the Irish Heart Foundation. It is taking place this Saturday (May 28), from 10.00am to 4.30pm, in the An Chúirt Hotel, Gaoth Dobhair.

Rosaline, a member of the ATTR Amyloidosis All Ireland Support Group who lives in Derry and has been diagnosed with the condition, emphasised the international scope of the conference, which will address healthcare professionals and patients throughout the day on early diagnosis and new treatments.

Speaking to the Derry News she said: “International experts will be attending the conference, which will discuss ATTR amyloidosis, a condition characterised by a build-up of abnormal amyloid or protein deposits in one or more organs of the body.

“Delays in diagnosing amyloidosis are common because the symptoms can be confused with numerous other conditions.

“They may include feeling weak or tired, unexplained weight loss, swelling in the legs, ankles or feet, breathlessness, numbness, pain or tingling in hands or feet, bowel or bladder issues or difficulty in walking.

"Speakers include world-renowned experts Professor Julian Gillmore and Professor Mary Reilly, and leading professionals in the field from both Northern Ireland and the Republic of Ireland,” she said.

Rosaline added that the theme of 'Emerging from the Shadows' reflected a rising awareness of the condition and the emergence of new treatments, of which there were none a few years ago.

She said: “We need to raise more awareness. My own condition, hereditary amyloidosis Thr60ala, is not only rare, it is all the more unusual in that it has a geographically specific origin in North West Donegal.

“One medical paper suggests that one per cent of the population of that county may carry the faulty gene. Of course, not everyone who carries the gene goes on to develop the condition, but many do.

“ATTR amyloidosis is rapidly progressive, and ultimately fatal without treatment. We need to ensure people can get a speedy diagnosis and access to treatment at the earliest opportunity.”Professor Emer Joyce, a consultant heart function and transplant cardiologist at the Mater University Hospital Dublin and clinical professor of medicine at UCD, will address the conference on how amyloidosis affects the heart.

Professor Joyce said: “Cardiac amyloidosis and specifically, ATTR-CA affects a growing population of patients encountered in our clinical practice,” she said.

“With the advent of contem= porary non-invasive imaging techniques, diagnostics in this field have substantially improved, allowing an earlier detection of affected individuals.

“This, alongside the emergence of effective specific therapies for ATTR-CA, is expected to translate into improved outcomes, making possible a promising future for amyloid patients.

“It is hoped that with dedicated funding and national support and co-ordination, Ireland can be a future leader in ATTR amyloidosis care and best practice.”

Professor Sinead Murphy, consultant neurologist with Tallaght University Hospital, will cover how Amyloidosis affects the autonomic nervous system, and Professor Mary Reilly, consultant neurologist with Queens University College, will discuss the peripheral nervous system.

Professor Aisling Ryan, consultant neurologist with University College Hospital, Cork, will cover H90D, the second most common mutation of hereditary amyloidosis in Ireland.

Dr Mark Coyne, consultant haematologist in Belfast, will highlight the pathways to genetic testing for hereditary amyloidosis, and Professor Julian Gilmore, head of National Amyloidosis Centre with UCL London, will discuss a new world of treatments for ATTR amyloidosis.

Attendees will also hear from Carlos Heras-Palou, Sandra Campbell and Jean Christophe Fidalgo on a range of partnerships and alliances on the condition.

The conference is supported by Alnylam Pharmaceuticals, Bridge- bio, Intellia Therapeutics, Pfizer and Sobi.

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