Lab testing: European Rare Diseases Day falls on February 28. Photo: Chris Sant Fournier

A national policy on rare diseases has been drawn up and will be released soon, according to Health Minister Chris Fearne.

Mr Fearne said some 20,000 people in Malta, half of them children, were currently suffering from a rare disease – defined in Europe as one which affects fewer than one in 2,000 people.

“Because these diseases are so rare, life can be doubly difficult for patients: they often find no support, no specialists with the necessary experience, and not enough investment by pharmaceutical companies,” he said.

Speaking at a press conference ahead of European Rare Diseases Day on February 28, Dr Fearne said the new national policy would focus on six major pillars: researching the prevalence of rare diseases; offering support to sufferers and their families; providing specialised training to healthcare professionals; improving diagnosis (particularly through screening for children); improving treatment and research.

People with rare diseases often live a very lonely life. We want to give them a voice

Also addressing the press conference were professor Alex Felice of the Malta Biobank and Michelle Muscat, a patron of the European Organisation for Rare Diseases (Eurordis) and chair of the Marigold Foundation.

“People with rare diseases often live a very lonely life. We want to give them a voice: to help find a solution where there is one, and to provide support and solace where there isn’t,” Ms Muscat said.

Over the last year, she said, the foundation had reached out to sufferers to encourage them to come forward, with the goal of establishing a support group under the aegis of Eurordis.

In collaboration with the ministry, the foundation has also provided more concrete support, including identifying treatment options abroad and bringing over a specialist to carry out operations in Malta.

Ms Muscat said as part of a programme of awareness events, the foundation would be hosting a fundraising dinner at Castille on February 20, accompanied by an exhibition “to give a face to rare diseases”.

Prof. Felice of the Malta Biobank called for more research to better understand rare diseases. He said biobanks of human samples and data were essential to tackle the problems of diagnosis, prognosis and treatment that sufferers often faced.

“It has been shown that the provision of services works better in the context of increased research,” he added.