Mother fears delay in rare disease plan

A MOTHER who spent years campaigning for families affected by an uncommon genetic disease is fearful that a two-year deadline for the launch of a national strategy to treat patients with rare diseases will not be met.

Anne Lawlor’s daughter, Áine, 28, was born with a genetic deletion syndrome called 22q11 deletion syndrome but was only diagnosed with the condition when she was 15.

The diagnosis explained many of the difficulties Áine had been experiencing.

Ms Lawlor spoke at yesterday’s European Conference on Rare Diseases that took place at Farmleigh House in Dublin during which the first step towards the development of a national plan for rare disease patients in Ireland was taken.

Deputy chief medical officer at the Department of Health, Dr John Devlin, who also spoke at the conference, said the guidelines provided by the European initiative had laid the groundwork for discussion on all the main issues surrounding rare diseases.

The issues include centres of excellence, development of research on rare diseases, access to therapies and treatments and patient empowerment.

“I am just afraid that after all that is said and done, a lot more is said than done. It is not that I am particularly pessimistic about the plan but I am not going out of here shouting ‘alleluia’,” said Ms Lawlor, who established a support group for families affected by 22q11 in 2007. It started with three families and now has 83. About 12 babies are born every year in Ireland with the condition, caused by a deletion of a piece of chromosome 22, which results in heart problems, developmental delay and learning difficulties.

“I went through so much with Áine that I really felt compelled to do something for other families in the same position. I will continue to work with my organisation to move things forward,” she said.

About 157,000 people in Ireland have rare diseases that are notoriously difficult to diagnose.

Patients are often sent on a prolonged diagnostic journey receiving inappropriate medical interventions which can lead to further complications and the wrong information.

Despite her reservations, Anne is delighted that Dr Devlin has been charged with developing the national strategy and that a policy group that will include patient group representatives will be established within the next six months.

The conference was organised by the Irish Platform for Patients’ Organisations, Science and Industry, the genetic Rare Disorders Organisation and the Medical Research Charities and is part of a European initiative to develop a national strategy for rare diseases.

A minute’s silence was held at the conference to mark the passing on Wednesday of Saoirse Heffernan, 5, from Keel, Co Kerry, who lost her battle with Batten’s disease, an inherited disease of the nervous system, on Wednesday.