South Belfast MLA and Health Minister Michael McGimpsey has been criticised for failing to attend either of this year’s events to mark Rare Disease Day on Monday, February 28.
While the Minister said he had a prior engagement which prevented him attending an event at Stormont today (Thursday, March 3), there was disappointment at his failure to appear at a ceremony run by families dealing with rare diseases in Sydenham on Monday.
This year’s theme — Rare but Equal — provided these people with a platform to voice their experiences on living with rare diseases.
Terry Hoey, founder of the Cavan Tommy Hoey Trust and organiser of the event said: "Last year we sent out over 150 invitations to local politicians and MLAs asking them to attend — only one showed up. Naomi Long is the patron for the trust. She has always shown her support but the rest do not seem interested."
Other politicians who attended Monday's event include MLA Dawn Purvis and the Alliance Party's Chris Lyttle.
Mr Hoey said: “Northern Ireland hospitals are so behind in their knowledge of rare disease compared to the rest of the UK, they are too provincial within the health service.”
Mr Hoey's grandson, Cavan, suffers from the rare disease x-linked lymphoproliferative syndrome (XPL). Cavan's disease was triggered by glandular fever.
His emotive talk described the difficulties his family have faced here in Northern Ireland, he added: “We have to have a single voice, across Northern Ireland, to say enough is enough.
“As a small nation, we have to show the UK and the Republic that we’re here and our Health Service needs specialist medical treatment right away.”
He added: “We’re a caring society and these are children who suffer, not grown ups.
“They don’t have a voice, they can’t elect anyone. They need people like us to get the finger out and say, ‘We are going to do something about this’.”
Cavan's mother, Deborah, described how her son will have to attend hospital on a weekly basis for the rest of his life and poignantly described how it is like, “jumping hurdles, like the Grand National.”
A rare disease is 80% generic in origin and 50% of people affected are children. Rare diseases affect fewer than one in 2000 people.
According to a report released by Rare Disease UK (RDUK): “More than half of people living with rare diseases are left to research and manage their conditions by themselves because of a lack of accessible medical expertise in the health service.”
A reception to mark this year's rare disease day is taking place on Thursday, March 3, at Stormont.
Colin Harper, manager at the Centre for Human Rights of Disabled people said: “While there is a high level policy event happening at Stormont, St. Marks offers a grass-roots approach to today's proceedings.”