As a mother of a child with severe disabilities, Liz Scanlon knows all about the challenges which living with a rare disease can entail.
Her six-year-old daughter Claudia was diagnosed shortly after birth with EB Epidermolysis bullosa (EB), a painful genetic skin condition causing the skin layers and internal body linings to separate and blister at the slightest touch.
Since then, the family have learned to measure out their days in line with the demands of a condition which requires 95% of Claudia's body be covered in bandages.
In the mornings, for example, this involves assessing any damage which has been done overnight by Claudia scratching at her neck, and changing the relevant dressings almost every day.
Claudia herself is only just out of hospital where she spent three days being treated for chronic anaemia, another key problem for EB patients.
"I have to be very mindful of the way I dress her. It is the little things, foreseeing the damage before it occurs. You have to be always 10 steps ahead," Scanlon explains. "For us that's our normality – it is what we do in our daily routine. We've built our lives around her."
For three years, Scanlon had to plead with the HSE for a public health nurse to visit her home in Crumlin, Dublin, to help her change the dressings on her daughter's entire body every second day.
Eventually, she received the help she needed a year or so ago.
Along with the support provided by the Debra Ireland charity, the visit of the nurse three times a week has transformed both of their lives.
Scanlon has watched proudly as Claudia progressed to her "amazing" mainstream primary school, St Louis' in Rathmines, where the support of her own special needs assistant has meant she has been included in all of the activities with the other children in her class.
"The other kids are just fantastic. They have been with her since four and it was explained to them from the start what she has. They all love her, they can't help her enough," Scanlon says. "She misses her friends when she is not there. It's the one place in world which she feels most accepted."
Rare diseases, including cystic f ibrosis and rare forms of cancer, affect an estimated 157,000 people in Ireland. Many patients are children and 30%, or just over 47,000 people, will die before they reach the age of five
Next Friday, the Irish Platform for Patients' Organisations, Science & Industry (IPPOSI) and other groups are organising a conference on rare diseases at Farmleigh.
They hope to continue to work with the government to meet a European- wide commitment to put in place a rare disease plan here by 2013, something which they say would have a hugely positive impact on sufferers.
For Scanlon, such a development is long overdue.
"There's nothing written there for parents with EB, no plan on how to deal with it. I'm not a nurse, I'm not a medical person. Of course I know her best because she's my child. But I need guidance," she says. "A rare disease plan would give people with rare illnesses a voice."