It is estimated that there are over 7,000 identified rare diseases worldwide. Many are ultra-rare, while others are more common or more widely known. This is because of the work of patient organisations and the media highlighting the challenges of patients and their families. It is also thanks to the work of clinicians in treating rare diseases.
In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people. In Ireland it is estimated that 6-8% of the population will have a rare disease during their lifetime, that equates to (around 280-370,000 people) over 4 times the capacity of Croke Park Stadium. In other words, approximately 1 person in 12 in Ireland will be affected by a rare disease at some stage in their life. Up to 70% are children, 30% of these children die by the age of 5 years.
The European Commission defines rare diseases as ‘life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them’. As stated, ‘low prevalence’ is defined as meaning fewer than 1 in 2,000 people. Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from the EU definition. 70-80% of rare diseases are genetic, and are present throughout the person’s entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and it has been estimated that 30% of children with rare diseases will die before reaching their fifth birthday.
Challenges for patients with rare diseases and their families in Ireland
There are many challenges for patients living with a rare disease in Ireland. These include for example:
Medical practitioners may fail to identify symptoms that they rarely come across, resulting in significant potential for patients to experience lengthy delays in diagnosis and often experiencing misdiagnosis
Even with a correct diagnosis, patients and their carers may have considerable difficulty sourcing appropriate information about the condition and identifying relevant/experienced specialists (should they exist in Ireland)
The lack of a transparent process to evaluate, approve and commission innovative therapies (medicines and technologies for rare diseases) results in unnecessary and prolonged delays for patients trying to access available treatments
Progressive disorders require pre-planning, fast track support including access to existing services, education and counselling services
Respite services are almost non-existent, those which are there are over subscribed and limited in capacity.
At the Saoirse Foundation we want to help those affected by and who work in the field of Rare Disease. We want to remove the feelings of isolation and work to bring Rare Disease Ireland together.