Action plea over young suffering rare diseases
Rare but Equal was this year’s theme for Rare Disease Day at a church in east Belfast last Monday.
A discussion afternoon for families affected by rare diseases was held at Heyns Hall in St Mark’s Church on the Holywood Road.
Rare diseases are 80% generic in origin and 50% of people affected are young children.
For families in Northern Ireland who have children with these illnesses the constant struggle is unimaginable.
Unfortunately, adequate specialised facilities are extremely limited in this part of the UK.
Terry Hoey, whose grandson suffers from x-linked lymphoproliferative syndrome (XPL), said: “Northern Ireland hospitals are so behind in rare disease compared to the rest of the UK.
“There needs to be centres of excellence at the Royal and Ulster hospitals to treat children pro-|perly.”
Naomi Long, East Belfast MP and patron of the Terry Hoey trust, said: “An early diagnosis is necessary and local medical expertise.
“The lack of scientific knowledge available to practitioners and the rarity of conditions makes the patient more vulnerable.”
Mrs Long highlighted the importance of Mr Hoey's work in achieving and building a support network here.
“There needs to be a voice in the health system and a voice in the corridors of power.
“We need to build up a database of people affected to make their voice heard so families do not have to battle through it themselves.”
There is a huge burden in Northern Ireland for parents who have to travel up to 90 miles for their child to receive treatment in Belfast.
Cecilia Milburn from CLIC Sargent, which supports children with cancer and their families, said: “There needs to be a home- from-home available for families in hospital.
“Families need support right from the diagnosis.”
East Belfast Independent MLA Dawn Purvis said: “Budgets get skewed and focused on certain areas.
“Resources tend to be focused and by their very nature rare diseases tend to be at the bottom of the pile for research and medical and surgical treatments because the population of people with rare diseases is so small.”
Regarding the expected £113 million cut to the health budget, Ms Purvis said: “I think unfortunately what will go first is the preventative stuff.
“Due to the way things function the money has to go on dealing with crisis. Preventative medicine and research will work in the long run and it is crucial for me to be aware that the little services are still there.”