THE CURRENT APPROACH to rare diseases in Ireland is not working, the Oireachtas health committee has been told.

Tony Heffernan, who set up the Saoirse Foundation, said he and his wife Mary “know too well the challenges of going through the system”.

The couple lost their two children – Saoirse and Liam – to Batten’s Disease, a rare genetic condition.

Saoirse died in January 2011, at the age of 5.

“Liam joined his sister in May of last year, he was also 5 years old,” Tony told the committee.

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 said the National Rare Disease Plan for Ireland 2014-2018 is “a step in the right direction”, but much more work needs to be done.

He said families dealing with rare conditions face several issues such as emotional and financial burdens, a lack of access to information and respite care, and social isolation.

Tony, Mary and Liam pictured in 2011. Bee for Battens / Facebook Bee for Battens / Facebook / Facebook

Tony and Mary set up the charities Bee for Battens and the Saoirse Foundation, as well as Liam’s Lodge -  Ireland’s first national respite centre for children with rare and genetic disorders, and the children’s ambulance service Bumbleance.

Research needed

Dr John Devlin, chair of the National Steering Group on Rare Diseases, said that about 6-8% of the population are affected by rare conditions.

He said huge problems surround the areas of access to clinical trials, research and patient support.

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These issues will be addressed by a national office for rare diseases, which is in the process of being set up.

Avril Daly, chair of the Genetic and Rare Disorders Organisation (GRDO) said an all-Ireland register of rare diseases needs to be set up, stating that it will lead to better care and “dramatically” improve patient outcomes.

Daly also expressed the importance of investing in research.

Put simply, the medicine of tomorrow depends on sustained investment in research today.

Senator John Crown said that setting up a national office to oversee the country’s approach to rare diseases is not the area to focus on.

“The answer is not to set up a new bureaucracy and a new registry,” he stated.

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Crown added that 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,” he told the speakers.

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