Rosaline's Story
Disease Roots in the Northwest of Ireland
The T60A mutation associated with hATTR amyloidosis is thought to originate from a 15 mile stretch of coastline in Donegal.1
This is Rosaline Callaghan’s story.
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.1 Rosaline had lost an aunt and other family members, all from Burt, a small village in Co 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).
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.
Image - The Royal Free Hospital, London
Be aware of your family history
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.
Image - Burt Castle, Donegal
Early diagnosis and treatment are vital
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.
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. 3 Donegal and Derry ancestry may have an impact in relation to hATTR amyloidosis.
Other patient stories
Hear From Other People Living With hATTR Amyloidosis
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