Tony Heffernan addressing the Oireachtas Health Committee in 2015:
“The systems need to revolve around the patient, not the other way around.”
Senator John Crown to Tony Heffernan and others who addressed the Oireachtas Health Committee in 2015:
“The fundamental problems that have to be addressed are the lack of doctors and specialists in Ireland for such conditions. You need to become advocates for reform of the service and the number of doctors.”
Dr John Devlin, chair of the National Steering Group on Rare Diseases, told the Committee:
“Huge problems surround the areas of access to clinical trials, research and patient support.”
The European Commission defines rare diseases as ‘life-threatening or chronically debilitating diseases which are of such low prevalence [i.e. fewer than 1 in 2,000] that special combined efforts are needed to address them’. 70-80% of rare diseases are genetic, although symptoms might not appear until later. Many rare diseases appear early in life. An estimated 30% of children with rare diseases will die before reaching their fifth birthday.
There are an estimated 7,000+ identified rare diseases worldwide. In Ireland, an estimated 6-8% of the population – that’s about 1 in 12 – will be affected by a rare disease during their lifetime (equivalent to 280-370,000 people, over 4 times the capacity of Croke Park.) Up to 70% of people suffering from rare diseases in Ireland are children, of whom 30% will not reach their 5th birthday.
The Saoirse Foundation founded by Tony and Mary Heffernan is committed to helping patients and their families feel less isolated, and to increase public awareness of rare diseases in Ireland. Appearing before the Oireachtas Health Committee in 2015, Tony Heffernan said that he and his wife “know too well the challenges of going through the system. I’ve witnessed this twice personally with my two kids, and the system does not act fast enough. The systems need to revolve around the patient, not the other way around.”
Tony told the committee that the National Rare Disease Plan for Ireland 2014-2018 is “a step in the right direction”, but that families dealing with rare conditions still face emotional and financial burdens, still lack access to information and respite care, and still suffer from social isolation.
Among the unique challenges faced by patients living with a rare disease in Ireland:
• Medical practitioners frequently fail to identify symptoms that they rarely come across, leading to greater potential for misdiagnosis, or lengthy delays in diagnosis
• Patients and their carers often cannot adequately access appropriate information about the condition
• Families experience difficulties in identifying the relevant experienced specialists
• Prolonged delays due to a lack of a transparent process to evaluate, approve and commission innovative therapies (medicines and technologies for rare diseases)
• Progressive disorders require pre-planning and fast-track support, including access to existing services, education and counselling services
• Practically non-existent respite services