Fragile X Syndrome
🌍 Shining a Light on Fragile X Syndrome in Northern Ireland
Contributed by the Fragile X Society for Rare Conditions Awareness Week in collaboration with NIRDP and Queen’s University Belfast
Fragile X Syndrome (FXS) is the most common inherited cause of learning disability, yet it remains one of the least understood. As we mark Rare Conditions Awareness Week in Northern Ireland, we’re proud to work with the Northern Ireland Rare Disease Partnership (NIRDP) to highlight Fragile X — a condition that affects families in every part of the UK, including right here in Northern Ireland.
What is Fragile X Syndrome?
Fragile X is a genetic condition caused by a change (or ‘mutation’) on the FMR1 gene, which prevents the body from making a protein crucial for brain development. It affects both males and females but tends to be more severe in males. Individuals with Fragile X may experience:
- Learning disabilities and developmental delays
- Speech and language difficulties
- Social anxiety and sensory sensitivities
- Challenges with behaviour and emotional regulation
It’s also associated with autism — in fact, Fragile X is the leading known single-gene cause of autism spectrum disorder.
Raising Awareness and Building Support
Despite its prevalence among rare genetic conditions, Fragile X is often misdiagnosed or misunderstood. Awareness events are vital for ensuring that professionals, educators, and the wider public have a better understanding of how to support individuals and families living with Fragile X.
The Fragile X Society is the UK’s leading organisation dedicated to supporting families, sharing resources, and pushing for better services and research. We provide practical guidance, emotional support, and tailored information across all stages of life — from early years to adulthood.
Collaboration in Northern Ireland
We are particularly proud of our growing partnership with Queen’s University Belfast, where exciting new research into Fragile X and other rare genetic syndromes is helping us understand more about how early development is shaped. Working with leading academics and clinicians, we aim to improve not only diagnosis and treatment pathways, but also everyday support for individuals with Fragile X and their families in Northern Ireland and beyond.
This collaboration represents a powerful example of what can be achieved when charities, researchers, and the community work together.
Get Involved
We invite families, professionals, and policymakers to take a moment to learn more about Fragile X Syndrome and the experiences of those living with it.
You can:
- Visit www.fragilex.org.uk for information, resources, and family stories
- Share your own experience or insight to raise awareness
Let’s work together to make the rare not just known — but understood, supported, and celebrated
