Dr John Berk, an international expert based at Boston University said of Hereditary Amyloidosis: “It is devastating in all its full-blown fury.”
Rosaline Callaghan is determined therefore to keep her campaigning focus on the denial of Patisiran, a “game changing” Amyloidosis treatment, to people in the Republic of Ireland.
Diagnosed with the previously terminal condition in 2007, Rosaline lost her father, aunt, and cousin to the terrible disease. All three came from Burt in Inishowen.
Rosaline is to begin her Amyloidosis treatment shortly because she lives in Derry. Ironically, Patisiran is available in the North and Britain.
Amyloidosis is known as ‘Donegal Amy’, due to its prevalence along a 15 mile stretch of coastline between Carrigart and Burtonport.
Speaking to Donegal Live, Rosaline said the contrasting attitude to Amyloidosis in the North and the Republic was “stark.”
She said: “My Patisiran treatment is in the pipeline and I am incredibly grateful to the Royal Free Hospital, my local consultant at Altnagelvin Hospital and my GP. They have been phenomenal.
“I am humbled to be the first in my family to avail of this game-changing treatment. It is not a cure, it is a treatment and no doubt there will be difficult days ahead.
“However, for those with an Amyloidosis diagnosis in the Republic, our group, ATTR Amyloidosis Ireland Support Group, started on May 1, 2020, and we already have 150 members.
“We also have a six-strong support and administration team who do an amazing amount of work behind the scenes. They are all people who are affected by Amyloidosis,” said Rosaline.
Rosaline said she was grateful for the support of her family and friends.
She added: “I am grateful to people just like my father who submitted themselves to examination and biopsies to help the ones coming after. Perhaps my father had a sense his first born would be one of them.
“However, as grateful as I am, I must be clear, how can I sleep while others weep? People in my position in the Republic of Ireland do not have access to Patisiran.
“As a group we remain resolute in campaigning for best treatment and we will go to whatever lengths are necessary. Patisiran is a game changer of a treatment and is not available in Ireland, even though Amyloidosis is a specifically Irish disease.
“The stories of the people in Ireland with whom I speak blow my heart wide open and I promise we will do everything we can. Time is of the essence. The clock is ticking, and the urgency is immediate,” said Rosaline.
Rosaline said she was at a loss to understand why the Health Service in the Republic was being so stubborn.
She said: “It is such a disgrace. People are getting sicker by the month.
“My people are in Donegal and they might be coming after me and there is no hope for them at the minute.
“Professor Hawkins, an international expert on Amyloidosis, based at the National Amyloidosis Centre at the Royal Free Hospital, London, gave me the results of my genetic testing in 2007.
“At that time, he said to me, when he had to break the news like that to people like me, it filled him with great sadness,” said Rosaline.
Describing Patisiran, Professor Hawkins told Inish Times: “The development of novel gene silencing medicines are a whole new type of pharmacology and a complete game changer for patients with Hereditary ATTR Amyloidosis.
“This hitherto untreatable disease causes heart failure and neuropathy leading to paralysis, incontinence and wasting and it severely impairs virtually all aspects of daily living.
“Amazingly, gene silencing therapy with Patisiran has turned this progressive and always fatal disease into a treatable, reversible disorder, with improvements in neuropathy becoming evident within a year of beginning treatment.
“We have lately even documented improvements in cardiac function, which is truly remarkable,” said Professor Hawkins.
The first get together of ATTR Amyloidosis Ireland Support Group is taking place in Letterkenny on the first weekend of October and everyone is very welcome.
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