Known scientifically as ‘the T60A mutation,’ it’s destroying lives throughout Donegal, and beyond.
Thought to originate along a 15-mile stretch of coastline in the northwestern Irish county, it is associated with hATTR amyloidosis, colloquially called ‘Donegal Amy,’ a genetic condition that progressively debilitates its victims leading to a deteriorating quality of life and loss of function. It is often fatal.
That’s why part of the proceeds from the ‘Fiddles and Faeries’ New Year Eve Guinness World Records fiddle-playing event will go towards helping victims of this terrible disease, along with other worthy charities in the region supporting people suffering from various life-threatening conditions, including diabetes, Alzheimer’s, cancer services, motor neurone disease, as well as suicide prevention and Lyme disease.
Concerned people, both in Donegal and beyond, are working tirelessly to create awareness of Hereditary Amyloidosis and Wild Type Amyloidosis in the hope of earlier diagnosis for people affected and to press for best treatments to be made available.
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Rosaline Callaghan is a retired barrister from Derry. Members of Rosaline’s family, all from Derry and Donegal, were some of the first to be diagnosed with hATTR amyloidosis caused by the T60A mutation. Rosaline had lost an aunt and other family members, all from Burt, a small village in Donegal, to the condition. When her father Hugh Charles died from the condition in 1997, she knew the condition was “coming for her”.
She quit her job as a barrister to travel the world, but when she began to experience “sudden” symptoms she knew what it was. Rosaline’s diagnosis was confirmed at the Royal Free Hospital in London, the home of the National Amyloidosis Centre (NAC).
In October 2018, Rosaline developed bilateral carpal tunnel syndrome and amyloid deposits were found in her heart. Her other symptoms included difficulty with walking, numbness and pains that felt like electric shocks in her legs.
Thanks to the research and dedication of staff at the NAC, Rosaline has been diagnosed with hATTR amyloidosis but feels that there is hope for patients like her.
Rosaline is urging doctors and patients to consider hATTR amyloidosis when investigating or diagnosing conditions. She is also asking everyone to be aware of their family history.
“When my father was in hospital in Belfast, experts came from all over the world to see him and learn from him,” said Rosaline. “One day, they were removing nerves from his foot and he said: ‘I know you can do nothing for me, but please take all you can to help the ones coming after.’ That makes me weep, but because of him and everyone who we have loved and lost, there is hope for the people to come now.”
Rosaline has urged individuals to make themselves aware of the symptoms associated with hATTR amyloidosis. As the symptoms of hATTR amyloidosis are likely to continue to progress over time, early diagnosis and treatment are important.
Rosaline presented to the Royal Free Hospital a couple of years in advance of most others. This was because she was familiar with the symptoms of hATTR amyloidosis.
Due to the range of possible symptoms, experts predict that people are going to their doctor for three or four years before a correct diagnosis of hATTR amyloidosis is given. Donegal and Derry ancestry may have an impact in relation to hATTR amyloidosis.
But there is hope.
An innovative new class of medicines is being developed for patients who have limited or inadequate treatment options. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach for the treatment of a wide range of severe and debilitating diseases, including amyloidosis.
The medications use RNA interference (RNAi) to ‘silence’ or turn off the production of specific genes that cause disease or that contribute to disease.
RNA interference (RNAi) is a breakthrough in understanding how genes are regulated in cells. It also represents a completely new approach to drug discovery and development. The 2006 Nobel Prize for Physiology or Medicine, awarded to Craig Mello and Andrew Fire, recognised the importance of RNAi as a major scientific discovery.
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