Saoirse Heffernan lost her battle with the rare disease, Battens Disease in 2011 at age five. Her parents, Tony and Mary Heffernan set up The Saoirse Foundation in her honour and in the honour of those currently living with genetic & rare diseases affecting people in Ireland. Their son Liam, now 5, was also diagnosed with Battens Disease at age two and has just outlived his sister Saoirse by one week.

Since the charity was developed it has greatly aided in highlighting not only Battens Disease through their Bee for Battens project but has also assisted families and children living with other rare diseases around Ireland via family supports throughout all of life, research and assisting in the bereavement process. Worldwide there are over 7000 known rare diseases. In Ireland, between 6 -8 % of the population will be affected by rare disease; up to 70% affected are children, 30% of whom will not live past the age of five.

Tony Heffernan said “National Rare Disease Day is so important to keep the public aware of rare diseases affecting people from every parish in Ireland. These diseases can sometimes effect only one or two people in Ireland however they still need attention and funding as much as the more common diseases.  We will be marking National Rare Disease Day by spending the day with Liam as a family. This is what is important to us right now and nothing gives me more joy than spending time with Liam and Mary”.

Following many uncomfortable trips in ambulances and cars to treatment centres the Heffernan, through The Saoirse Foundation have created the World’s first interactive children’s ambulance service. The BUMBLEance provides scheduled transportation for sick children to and from their appointments. Parents can travel with their child in the back and the family has full access to a Sony Playstation, an iPad with full itunes library of books, movies and music, control of the lighting and sound and essentially their entire environment.

The child is in control of the journey which results in the child and parents arriving to sometimes very difficult procedures or treatments in a relaxed state. The medical community have commented that this has an enormous knock-on effect throughout the entire hospital visit. BUMBLEance’s goal is to have five BUMBLEance’s on the road, one for each county and one for Dublin alone. People can donate €4 by texting Buzz to 50300 or donate their old mobile phones to the Foundation.

The Saoirse foundation is also behind Liams Lodge, Irelands first dedicated respite centre which will be based in Co Kerry and provide a home away from home for families of sick children from all over the country. It will be a place for families to come to escape the day-to-day life at home and full medical care is provided on site for visitors. Formal planning permission will be lodged with Kerry County Council in March.

Tony Heffernan is the Parent and Patient Representative on the Minister for Health’s Steering Group for Rare Disease which was established in 2011 and sanctioned Ireland’s First Rare Disease Plan which is due to be published shortly. The group works with the Department of Health in creating and developing a five year national plan on Rare Disease.

National Rare Disease Day 3