Health News
Rare Diseases Q1 2023
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New rare disease plan needed to improve Ireland’s rare disease pathways
Government and industry partnership is essential to deliver quicker diagnoses for rare disease patients and better access to innovative treatments. Rare diseases collectively affect around 280,000 people in Ireland but the impact they have on patients, families and society is profound. Of the nearly 7,000 rare diseases, many are severe, chronic and progressive, with only...
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Empowering rare disease communities and pioneers to strengthen research
Rare diseases receive much less recognition and support than more common diseases, with patients and caregivers living with significant unmet health and social care needs. Today, we are working towards better registration of rare diseases, using new genetic tests and artificial intelligence to improve diagnosis and care pathways, improving access to orphan drugs and developing...
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Changing the narrative for people living with a rare disease
Have you ever heard of Aarskog Syndrome? How about Abetalipoproteinemia? Probably not. As with all rare diseases, they occur in less than 0.05% of the world population. If we add up the total prevalence for all rare diseases, a very different picture emerges. Globally, an estimated 400-475 million people live with a rare disease, most...
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Don’t live with the pain and discomfort: how to manage ATTR amyloidosis
It’s important to educate people about ATTR amyloidosis because the symptoms are not always obvious. I’d never heard of amyloidosis until 2020 — I became unwell at work. I initially thought I was having a heart attack. In August 2020, I met with my consultant who informed me of the diagnosis. To determine what type...
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Hereditary ATTR amyloidosis — a rare disease with a unique Irish connection
hATTR amyloidosis is a rare, hereditary condition caused by amyloid deposits from abnormal versions of a blood protein called transthyretin (TTR). Imagine a rare disease seen in a total of approximately 50,000 people across the world, with at least 120 known mutations. Then, imagine that the third most common mutation of this rare disease is...
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Recognising hereditary ATTR amyloidosis early can improve your quality of life
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. ...
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An evolving story: improving care for hereditary ATTR amyloidosis
Hereditary ATTR amyloidosis, characterised by the abnormal build-up of amyloid protein in the body’s organs, is caused by an inherited mutation in the transthyretin (TTR) gene. Hereditary transthyretin mediated amyloidosis (or hATTR amyloidosis) affects the nerves and heart, as well as the gastrointestinal and autonomic nervous systems. Over time, patients can lose motor function, become...
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HSE struggling to meet the needs of rare disease patients
There are over 6,000 recognised rare diseases in Ireland, with many more yet to be identified. Rare diseases in Ireland are not rare; collectively, over 300,000 of our citizens are affected. So, you would think that the health service of this country would be well-versed in how they scrutinise and evaluate orphan drugs relating to...
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Celebrating rare disease day 2023 by shining a light on ‘rare’
Today, the last day of February, is Rare Disease Day; the day dedicated to raising awareness for the 300 million people around the world living with rare diseases. Across the globe, the rare disease community is coming together to call for equitable access to social opportunity, treatment and care for people living with a rare...
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A global community demands visibility for people with a rare disease
People living with a rare condition experience a kind of invisibility which exacerbates inequity, discrimination and injustice. Imagine a community of over 300 million people fighting to be seen. On Rare Disease Day 2023, Rare Diseases International (RDI), a global network of rare disease organisations, has a simple call to action: that the world sees...