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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
# Usher Syndrome
# Usher Syndrome

'Should I wear a plaque saying I have a disability?': The reality of life with sight loss during a pandemic

May 24th 2020, 8:15 AM 20,138 Views 12 Comments

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
# Hht

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

Feb 29th 2020, 7:30 AM 70,574 Views 7 Comments

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
# Ambassador
# Ambassador

Broadcaster Keelin Shanley honoured during rare diseases event at Dublin's Mansion House

Feb 25th 2020, 6:30 AM 26,579 Views 3 Comments

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
# Healthcare
# Healthcare

'I thought I was crazy': Patients with rare diseases urge next government to deliver on supports

Feb 24th 2020, 3:46 PM 15,366 Views 3 Comments

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'
# Low Protein Diet
# Low Protein Diet

'When we tried to explain PKU to people in the past, they'd say we were mad, things are different now'

Feb 24th 2019, 7:00 PM 33,946 Views 1 Comment

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
# Cost Effective
# Cost Effective

'The system is not adequate': Government sets up new way to judge medicines for rare diseases

Nov 15th 2017, 10:05 PM 9,589 Views 5 Comments

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
# Rare Diseases
# Rare Diseases

It robs people of the basics of life': Irish families bring Huntington's campaign to Vatican

May 16th 2017, 6:10 AM 10,193 Views 14 Comments

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
# Appeal
# Appeal

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

Apr 9th 2017, 8:00 AM 72,300 Views 3 Comments

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
# Pku

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

Feb 28th 2017, 6:20 AM 40,250 Views 7 Comments

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'
# SPINAL MUSCULAR ATROPHY
# SPINAL MUSCULAR ATROPHY

'If she gets another chest infection she probably won't make it, that’s the reality'

Jan 7th 2017, 7:25 AM 31,840 Views 16 Comments

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
# Saving Dylan
# Saving Dylan

Only 18 people in the world have this rare disease - an Irish 3-year-old is one

Mar 1st 2016, 6:10 AM 31,832 Views 3 Comments

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
# Health Service
# Health Service

A new specialist centre hopes to pin down tough to diagnose rare diseases

Jun 4th 2015, 10:31 AM 8,835 Views 14 Comments

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'
# Rare Diseases
# Rare Diseases

'I know the current system doesn't work, I've buried two children'

Feb 26th 2015, 5:30 PM 23,309 Views 3 Comments

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
# Rare Diseases
# Rare Diseases

Jamie's joints dislocate every day but he has no access to treatment

Mar 9th 2013, 8:15 AM 10,817 Views 34 Comments

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
# Cystic Fibrosis
# Cystic Fibrosis

New drug for cystic fibrosis approved by European regulators

Jul 28th 2012, 12:29 PM 4,284 Views 7 Comments

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
# Survey
# Survey

People affected by rare diseases asked to have their say on new plan

Jun 20th 2012, 7:00 AM 2,257 Views 4 Comments

The government is looking for consultations up until 13 July from anyone affected by rare diseases.