Home » Rare Diseases » Recognising hereditary ATTR amyloidosis early can improve your quality of life

Rosaline Callaghan

Founder, ATTR Amyloidosis All Ireland Support Group and Northern Ireland representative on the All Ireland Rare Diseases Steering Committee

Genetic testing and screening are available for this serious, debilitating and sometimes fatal hereditary disease, hATTR amyloidosis.

Rosaline Callaghan, a retired Barrister living in Derry, learnt that she carried the gene mutation that causes  hereditary ATTR amyloidosis, in 2007. At that time, she was told that finding a treatment for this fatal disease was unlikely. 

“I saw my father die of this,” says Rosaline. “hATTR relentlessly affects your organs and nervous system.” Rosaline left work at 53 to travel, wanting to make the most of her time while she was in good health, having developed her own personal plan for the future, should the disease progress. 

hATTR relentlessly affects your
organs and nervous system.

Early signs

While travelling in Turkey in 2018, she developed arm and wrist pain overnight. “I knew it was a sign,” she says. Later, she developed pins and needles and reduced feeling in her feet. She returned home to Derry, and following investigation, it was confirmed that she had hATTR amyloidosis.

“My particular genetic mutation, T80A, originates from Northwest Donegal, so anyone genetically linked to that area should know about this — so should GPs and wrist surgeons, as Carpal Tunnel Syndrome can be an early sign,” she warns. 

Get tested for hATTR

Now, Rosaline raises awareness of hATTR amyloidosis, alongside Amyloidosis Ireland and Rare Diseases Ireland. She informs and urges people: “Today, treatment, genetic testing and family screening are available. If you suspect you may have hATTR amyloidosis, get tested now.” 

DS- UK – 00003 , Feb 2023
Alnylam are the sole sponsors of this content only. They nominated the two interviewees and reviewed all content prior to publication.

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