EU day for rare diseases marked

A BIOTECHNOLOGY company that employs more than 400 people at its Waterford campus will mark European Rare Disease Day today with a balloon release into the city.

Several of Genzyme’s products are created for disorders so the company decided to get involved. European Rare Disease Day is organised by the European Organisation for Rare Diseases.

Genzyme has also supported the national events organised by the Genetic and Rare Disorders Organisation at the Mansion House in Dublin to mark what has been branded “a rare day for very special people”.

A disease is defined as rare in Europe when it affects fewer than 1 in 2,000 of the population. Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Between 6,000 and 8,000 rare diseases have been identified and these will affect about 30 million European citizens at some point in their life.

According to the organisers of European Rare Disease Day, which was deliberately scheduled to fall on a day that only occurs once every four years, patients with very rare diseases and their families can be particularly isolated and vulnerable.

The life expectancy of rare disease patients is significantly reduced and many have disabilities that become a source of discrimination and reduce or destroy educational, professional or social opportunities.

Genzyme Ireland human resources director Paul Shanahan said the day provided an opportunity for the company’s team in Waterford to reflect on the impact their work has in the lives of people with rare diseases.

“We work in what is perhaps the ultimate people business in that every single product we have an input to ultimately goes on to help improve the life of a patient,” said Mr Shanahan.

“Many of the diseases our products tackle are extremely rare and have previously lacked viable treatment options. Compassion is one of our core values and the event to mark European Rare Disease Day in a small way here at the Waterford facility allows us to reflect on the patients who we ultimately work for.” As well as helping to raise awareness of rare diseases, he said, the simultaneous actions across Europe today are providing information and support to patients and families. “I understand the intention is to establish this as an annual event with the date fixed for February 28 on three out of four years, he said.