Rare Diseases Ireland

02/03/2026

On hashtag , six months after the launch of Ireland's National Rare Disease Strategy 2025-2030, a new national survey of 177 people living with rare diseases and family carers reveals persistent challenges in accessing care, deteriorating physical and mental wellbeing, and deep scepticism about whether the National Rare Disease Strategy 2025-2030 will translate into meaningful improvements without urgent and visible implementation.

This survey presents a clear message: people living with rare diseases and their families need delivery, not just strategy. Addressing access delays, fragmentation of care, and financial hardship would have immediate and measurable impact on quality of life. Political leadership now has an opportunity to convert policy commitments into practical changes that patients will feel in their daily lives. It is time to covert the words into actions.

We want to thank everyone who supported this work and took the time to complete the survey. Your input and contributions help to build awareness of rare diseases.

We can not and will not allow our voices to be unheard and forgotten!
Further details are available in our press release -https://rdi.ie/wp-content/uploads/2026/02/RDI-Press-Release-260226-website.pdf

28/02/2026

28/02/2026

📊 In County Cavan - statistically, there are 4,806 people living with a rare disease (based on the 2022 census population).

In Ireland, 300,000 people have a rare disease - that’s 1 in 17.

✨ Today is

28/02/2026

Today is Rare Disease Day. Did you know that 300 million people worldwide are living with a rare disease? That is 1 in 17 people in Ireland that are affected, with almost half of rare diseases being neurological?

Today, NAI are standing in support and raising awareness for patients, families, and carers affected by rare diseases.

Rare Disease Day Rare Diseases Ireland

28/02/2026

28/02/2026

It's !

Today we join the 300 million people around the world who live with a rare condition to raise awareness, share stories and show support. Although each rare condition (as the name suggests) is rare, collectively when you combine all 7,000+ rare conditions together, having a rare condition becomes more common, with rare conditions affecting 1 in 17 people in their lifetime!

Rare chromosome and gene disorders are a form of rare condition, and are often some of the rarest out there. To find out what it's like to live, or be affected by, a rare chromosome or gene disorder, you can read the hundreds of stories in our Little Red Book. You can view the book for free online, or you can now buy a physical copy on shop!

https://rarechromo.org/little-red-book/

28/02/2026

✨I am a PhD student and dog lover. I have cavernoma - Charlotte Cuffe

“I had a cavernoma removed from my cerebellum 6 years ago!”

Charlotte is the Vice-Chairperson of Cavernoma Ireland.

28/02/2026

Seckel syndrome-1 (SCKL1) is a rare autosomal recessive disorder caused by mutations in the ATR gene (ataxia-telangiectasia and Rad3-related protein) located on chromosome 3q23.

Seckel syndrome is a very rare genetic condition that affects growth and development. Every person living with Seckel syndrome is unique and shows incredible strength every day. We are proud to stand together as Rare Warriors Wexford in raising awareness and celebrating our rare warriors 💜💛

26/09/2025

26/09/2025

Orla Hardiman, Professor of Neurology at Trinity College and Consultant Neurologist at Beaumont Hospital in Dublin, reacts to a new trial showing success in treating Huntington's Disease