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Wednesday 31 May 2023 Dublin: 16°C

# rare diseases

All time
# usher syndrome
'Should I wear a plaque saying I have a disability?': The reality of life with sight loss during a pandemic
Golf champion Carol Brill said daily tasks can be “very, very stressful” for people with sight and hearing loss.
# hht
'You could have a ticking time bomb in your body': 9 in 10 people who have this serious genetic disorder don't realise
About 1,000 people in Ireland have HHT but many more are undiagnosed.
# ambassador
Broadcaster Keelin Shanley honoured during rare diseases event at Dublin's Mansion House
Keelin’s husband Conor was in attendance while Health Minister Simon Harris also paid tribute.
# Healthcare
'I thought I was crazy': Patients with rare diseases urge next government to deliver on supports
Around 6% of the population in Ireland is living with a rare disease such as PKU and cystic fibrosis.
# low protein diet
'When we tried to explain PKU to people in the past, they'd say we were mad, things are different now'
People with this rare genetic condition need to maintain strict low-protein diets.
# cost effective
'The system is not adequate': Government sets up new way to judge medicines for rare diseases
Many drugs for rare diseases have been ruled as not “cost-effective” under existing criteria.
# rare diseases
It robs people of the basics of life': Irish families bring Huntington's campaign to Vatican
Irish people living with Huntington’s Disease will have an audience with Pope Francis tomorrow.
# appeal
'I feel like a ticking time bomb' - Dublin woman appeals for help getting her life back
Mags Forkan suffers from Ehlers-Danlos Syndrome.
# pku
'Nobody knows what it is': The rare genetic condition that means people must avoid protein
Despite being rare, Ireland has one of the highest rates of PKU in Europe.
# SPINAL MUSCULAR ATROPHY
'If she gets another chest infection she probably won't make it, that’s the reality'
Nellie and Lara are the only two children in Ireland with Spinal Muscular Atrophy Type 1 – an extremely rare genetic condition.
# Saving dylan
Only 18 people in the world have this rare disease - an Irish 3-year-old is one
It is estimated that there are over 6,000 rare diseases in existence in Ireland impacting an estimated 300,000-plus children and adults.
# Health Service
A new specialist centre hopes to pin down tough to diagnose rare diseases
The National Rare Diseases Office was opened today by the Health Minister.
# rare diseases
'I know the current system doesn't work, I've buried two children'
Both of Tony and Mary Heffernan’s children died at the age of 5.
# rare diseases
Jamie's joints dislocate every day but he has no access to treatment
The Rare Disease Taskforce has asked the HSE to clarify its position in relation to the Treatment Abroad Scheme that could help.
# Cystic Fibrosis
New drug for cystic fibrosis approved by European regulators
Regulators in Ireland must now approve the drug ahead of negotiations between the drug’s manufacturer and the HSE regarding pricing.
# Survey
People affected by rare diseases asked to have their say on new plan
The government is looking for consultations up until 13 July from anyone affected by rare diseases.