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#rare diseases

# rare-diseases - Sunday 24 May, 2020

'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.

# rare-diseases - Saturday 29 February, 2020

'You could have a ticking time bomb in your body': 9 in 10 people who have this serious genetic disorder don't realise 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.

# rare-diseases - Tuesday 25 February, 2020

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.

# rare-diseases - Monday 24 February, 2020

'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.

# rare-diseases - Sunday 24 February, 2019

'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.

# rare-diseases - Wednesday 15 November, 2017

'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 - Tuesday 16 May, 2017

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.

# rare-diseases - Sunday 9 April, 2017

'I feel like a ticking time bomb' - Dublin woman appeals for help getting her life back

Mags Forkan suffers from Ehlers-Danlos Syndrome.

# rare-diseases - Tuesday 28 February, 2017

'Nobody knows what it is': The rare genetic condition that means people must avoid protein 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.

# rare-diseases - Saturday 7 January, 2017

'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.

# rare-diseases - Tuesday 1 March, 2016

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.

# rare-diseases - Thursday 4 June, 2015

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 - Thursday 26 February, 2015

'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 - Saturday 9 March, 2013

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.

# rare-diseases - Saturday 28 July, 2012

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.

# rare-diseases - Wednesday 20 June, 2012

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.