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, some 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, or 4 times the capacity of Croke Park.) Children account for up to 70% of people suffering from rare diseases in Ireland. 30% will not reach their 5th birthday.

Appearing before the Oireachtas Health Committee in 2015, Tony Heffernan said that he and his wife Mary “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. 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.” Senator John Crown told Tony and others who addressed the Committee: “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.”

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
• Even when a rare disease is correctly diagnosed, patients and their carers often cannot adequately access appropriate information about the condition
• Families experience difficulties in identifying the relevant experienced specialists
• Prolonged delays are caused by 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
• In practical terms, respite services are non-existent

Saoirse and Liam Heffernan both died from Batten Disease – an inherited rare and fatal neuro-degenerative disorder that affects babies, young children and juveniles. Batten Disease belongs to a group of disorders called neuronal ceroid lipofuscinoses (NCLs). Batten Disease is not contagious, but it is also not preventable. Only a small handful of KNOWN cases of Batten Disease have been recorded in Ireland. Batten Disease affects 2-3 of every 100,000 births in the UK and USA; 1 of every 12,500 births in Finland; and 1 of every 20,000 births in Norway & Sweden. There is as yet no known cure for Batten Disease.

Because NCLs are the result of a defective gene, they can often strike more than one member of a family, as happed with the Heffernans. Early symptoms are confusing and not easily recognised, even by medical personnel.