# 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.

20.2k

May 24th 2020, 8:15 AM

# 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.

70.7k

Feb 29th 2020, 7:30 AM

# 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.

26.6k

Feb 25th 2020, 6:30 AM

# 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.

15.4k

Feb 24th 2020, 3:46 PM

# 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.

34.0k

Feb 24th 2019, 7:00 PM

# 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.

9.6k

Nov 15th 2017, 10:05 PM

# 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.

10.2k

May 16th 2017, 6:10 AM

# appeal

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

Mags Forkan suffers from Ehlers-Danlos Syndrome.

72.4k

Apr 9th 2017, 8:00 AM

# 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.

40.4k

Feb 28th 2017, 6:20 AM

# 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.

31.9k

Jan 7th 2017, 7:25 AM

# 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.

31.9k

Mar 1st 2016, 6:10 AM

# 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.

8.9k

Jun 4th 2015, 10:31 AM

# 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.

23.4k

Feb 26th 2015, 5:30 PM

# 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.

10.8k

Mar 9th 2013, 8:15 AM

# 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.

4.3k

Jul 28th 2012, 12:29 PM

# 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.

2.3k

Jun 20th 2012, 7:00 AM