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

Disease Roots in the Northwest of Ireland

The T80A mutation (formerly known as T60A) associated with hATTR amyloidosis is thought to originate from a 15 mile stretch of coastline in Donegal.¹

This is James and Pat Coyle's story.

James Coyle and his first cousin Pat, come from the western most tip of Ireland, Belmullet, Co Mayo, a remote area on the shores of the Atlantic Ocean.

Generations of their families have grown up here, have helped build the community, are educated here, play sport, raise families, and continue to farm the land passed down from their fathers and their fathers before.

Both their fathers, Packie and Seamus Coyle, have died of the genetically inherited disease, hATTR Amyloidosis

James and Pat are 2 cousins living in the West of Ireland with their young families.

In their extended family line, along with a history of emigration, there is a history of hATTR Amyloidosis. James and Pat's grandfather, some uncles, aunts and cousins have passed away from the illness or carry the gene.

However, with increasing research into hereditary illnesses, greater awareness and support infrastructure and treatment options, their story is not only about the history of illness in their family, it is as much about the present and the future, and the steps they can take to manage the disease, should they go on to develop hATTR amyloidosis.

“They talk about it being a rare disease, but it's not a rare disease when it's in your family.”

- James Coyle

Image - Aerial view, Co. Mayo

Getting Tested for the hATTR Amyloidosis Gene

James and Pat talk about the process of getting tested for the gene. James visited his local GP Belmullet and got blood samples taken. These were sent over to the National Amyloidosis Center (The NAC) at The Royal Free Hospital in London. Within 3-4 weeks the results were returned to James' local GP and the results were shared with him. Pat is considering whether to take the genetic test himself, and if he decides to take the test, he can avail of genetic testing through his local Specialist.

Link to give to your local Specialist if requesting a Genetic Test from the NAC

“I found that there was a simple enough process to getting the genetic screening test done, within 3-4 weeks I had my results back.”

– James Coyle

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 T80A 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

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.

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.

Hear From Other People Living With hATTR Amyloidosis

David's Story

View more patient stories

References
1. Gillmore JD et al. Adv Ther. 2022;39(6):2292-2301
2. 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.
3. 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.
4. 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.

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