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Thursday 1 June 2023 Dublin: 14°C

# rare disease

All time
# 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.
# pku
'If I stay in Ireland, my daughter could be slipping through my fingers'
People with PKU, a rare genetic disorder, are fighting for access to medication.
# rare disease
Doctor who treated Charlie Gard says the baby's life became 'a soap opera'
“I loved this child to bits. But it got to the point where there was nothing more we could do.”
# rare disease
'If he was suffering we wouldn't be up here fighting': New evidence in Charlie Gard case
Proceedings grew heated today, with Gard’s parents storming out of the courtroom at one point.
# 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.
'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.
# Degos disease
This woman is fighting for her life and access to a medication that could help
Charlotte Connolly is thought to be the only person in Ireland with Degos disease.
# Health
Do you suffer with psoriasis? A new drug treatment could offer you great news
Clinical trials show guselkumab to be better than current medicines.
# never seen before
Mother of Cork toddler thanks hospital for saving her daughter with rare diabetes
Medication designed for Ava has meant that she no longer needs an insulin pump and can now live at home.
# rare disease
Bad heartburn? You might have Barrett's Oesophagus
The condition can lead to cancer, so it’s important to get it checked out.
# Awareness
“People are being left to rot”: Rare disease sufferers feel let down by health service
The daughter has been advised to get treatment abroad for her condition – but it might cost the family thousands of euro.
Column: ‘I was a regular teen who has unfortunately dealt a harder life than most’
Niamh n Ruarí was diagnosed with a disease that affects one in every 200,000 people, but is determined to re-educate society on the perceptions they have of those who are physically less fortunate.