Health News
Rare Diseases Q1 2023
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Haemophilia care gets the support and treatment research it needs
Haemophilia is an inherited reduction in clotting factor VIII (Haemophilia A) or clotting factor IX (Haemophilia B) that can result in bleeding and joint damage. Haemophilia A and B are inherited bleeding disorders carried in the X chromosome, with haemophilia A affecting 1 in 5,000 boys and Haemophilia B affecting 1 in 30,000 boys worldwide....
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s Sponsored
Providing children with cerebral palsy the highest level of intervention and care
Our specialist services are helping to deliver the best therapy and support for children with cerebral palsy (CP). Cerebral palsy refers to a group of non-progressive but often changing motor impairment syndromes secondary to lesions or anomalies of the brain arising in the early stages of development. The prevalence of CP in Ireland is approximately...
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Gene-silencing drugs are among the innovative treatments for stiff heart
Cardiac amyloidosis is a long-described disorder where a waxy, protein-like substance is deposited on the heart muscle making it stiff and, ultimately, weak. Cardiac amyloidosis can cause breathlessness (labelled as ‘heart failure’) and heart rhythm problems that can lead to death. It has two main types: one is driven by proteins made by the bone marrow and...
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How much of an impact do female hormones have on our bodies?
If you have a female reproductive system, then you will go through perimenopause. It’s up to you to educate yourself about hormones and discuss the possibilities with your doctor – nobody else will do this for you. Our bodies have been sending us messages constantly since puberty with clear instructions for the day ahead. Enter...
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Why people with a rare disease may struggle in Ireland
When we received a diagnosis for our daughter after 11 years, we thought it was the end of our difficult journey; but in reality, it was the start of another. Our journey facing a rare disease In October 2000, our first child was born. What should have been the most exciting time was filled...
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Patient-led advocacy can lead to better rare disease policies
Broad patient advocacy fosters change that translates the newest research into practice and nurtures partnerships within the rare disease sector. Meeting a policymaker and presenting a case for why they should take action is not only a form of direct patient advocacy. It is also a way to ensure policymakers see each rare disease patient...
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Increasing recognition of ATTR cardiac amyloidosis can improve outcomes
Transthyretin Amyloidosis (ATTR) is a multisystemic condition, typically presenting with heart and/or neuropathy symptoms. It is being increasingly recognised in older people due to heightened awareness and advances in cardiac imaging techniques for diagnosis. Amyloidosis is a general term used to describe a group of diseases where a particular protein ‘misfolds’ and subsequently accumulates into...