Philippa Quigley
Country Business Lead, Ireland
A rare genetic disease linked to Donegal is often missed until serious damage is done. Greater awareness could help families seek treatment sooner — and improve lives.
For many families, hereditary ATTR amyloidosis is more than a rare disease — it is a hidden inheritance, passed quietly from one generation to the next. In Ireland, that threat has particular resonance. A mutation known as T80A has long been linked to north-west Donegal and, through family lines, has travelled far beyond its place of origin. Caused by a faulty transthyretin (TTR) protein, the condition triggers a build-up of amyloid protein that can gradually damage the heart, nerves and digestive system.
Early diagnosis can make a real difference. Treatments can slow the disease and improve quality of life for longer — but only if the warning signs are recognised in time. Those signs include: tingling or numbness in the hands and feet, history of carpal tunnel syndrome, unexplained weight loss, persistent digestive problems, dizziness, shortness of breath, swelling in the legs, or worsening balance and walking difficulties.
Unfortunately, these symptoms can be mistaken for more common illnesses. That is why awareness matters — especially in families with a history of amyloidosis, unexplained heart problems, nerve symptoms, or Irish roots linked to Donegal. When symptoms seem unusual, keep worsening, or affect more than one part of the body, it is vital to ask a GP whether specialist assessment is needed.
Hereditary ATTR amyloidosis is passed from parent to child, and every child of a parent carrying the mutation has a 50 per cent chance of inheriting it. Honest conversations, genetic counselling and testing can open the door to quicker diagnosis and a better chance of treatment before irreversible organ damage takes hold. In Ireland, improved access to testing is offering families a real opportunity to act sooner.
Rare diseases are often pushed to the margins, but this is one that deserves to be brought into the light. The sooner hereditary ATTR amyloidosis is identified, the sooner treatment, support and hope can begin. For families in Ireland, and for people around the world with Donegal roots, knowing the signs, sharing family history and seeking help early could make all the difference.
