The unique story of Hereditary ATTR (hATTR) Amyloidosis in the Northwest of Ireland

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

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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

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My father had a discussion with me, and said "Rosaline, they're saying that this is hereditary, I think this could have implications for us".

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.

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When my father was in hospital in Belfast, experts came from all over the world to see him and learn from him. 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.

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


1. Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR Ala 60) in North West Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry. 1995; 59:45–49.
2. Sattianayagam PT, Hahn AF, Whelan CJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012; 33:1120–1127.
3. Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy [published online ahead of print, 2020 Jan 6]. J Neurol. 2020;10.1007/s00415-019-09688-0.

ATTR: Transthyretin amyloidosis
hATTR: hereditary ATTR (hATTR)
MRI: magnetic resonance imaging