Thirty-Five Years of Change:

How Life with Fragile X in the UK Has Evolved — and What the Next 35 Years Could Bring

“As a small charity, our strength has always come from families supporting one another. Science is moving fast, but what matters most is making sure those advances translate into real changes in daily life.” — Pete Richardson, Managing Director, Fragile X Society

When the Fragile X Society was founded 35 years ago, families across the UK were searching for answers to questions that health and social care systems struggled to address. In the early 1990s, knowledge of fragile X syndrome (FXS) was still emerging: the FMR1 gene had only just been identified, diagnostic pathways were uneven, and support was very limited. Today, much has changed, clinically, socially, and culturally. And the horizon ahead, shaped by genetics, AI, and assistive technologies, offers reasons for cautious optimism, provided we keep people and families at the centre.

Then and Now: From Limited Awareness to Recognised Need

Medicine. Thirty-five years ago, a diagnosis often arrived late, after years of uncertainty. Genetic testing itself has since become faster and more reliable, with clearer routes to confirm FMR1 expansions (although post-covid waiting times have increased) In 2025, premutations. Paediatricians, clinical geneticists and speech-and-language therapists are now more likely to recognise the FXS profile: language differences, sensory sensitivities, anxiety, attention and learning needs. While there is still no licensed condition, modifying medicine for FXS, clinical care is far more proactive and multidisciplinary, focusing on communication, anxiety management, sleep, education plans, and family wellbeing.

“Earlier recognition of Fragile X in children makes all the difference. With the right strategies, many children thrive in school and at home, but families still need to fight too hard to access basic support. Trying to secure an early diagnosis, find the right school, access CAMHS, or link with OT, SALT and physiotherapy is still a massive challenge.” — Alison Field, Families & Professional Advisor (Children)

Social Care

In the 1990s, families frequently navigated a fragmented system on their own. Over time, statutory guidance, the Care Act (in England), and a stronger emphasis on carers’ rights have improved the language of entitlement and assessment, though not always the delivery. Personal budgets, short breaks, and supported living have widened choice for some, while transitions into adulthood, employment and housing remain uneven. The best provision today blends local authority support with specialist voluntary expertise, something the Fragile X Society has championed.

“Adults with Fragile X often face barriers at key life stages: work, housing, relationships. The progress we’ve seen is heartening, but we need consistent services that do not fade away after school years end. Community understanding and the availability of EHCPs have made a difference, if you can get one.” — Jane Oliver, Senior Families & Professional Advisor (Adults)

Public Attitudes

We have moved from “hidden disability” to a more visible and vocal community. The inclusion agenda in schools, NHS staff training on learning disability, and greater mainstream representation have shifted perceptions. Parents now more often encounter professionals who understand that behaviour is communication, that environments can be adapted, and that families are experts in their own lives. Stigma has not disappeared, but understanding has grown.

What Made the Difference?

Genetic literacy improved across the NHS, with clearer lab reporting, cascade testing for families, and better counselling around premutation-related conditions such as FXTAS and FXPOI. Integrated support grew, with more clinicians, therapists and educators working to shared plans such as EHCPs and person-centred support. The voluntary sector, including all of us here at the Fragile X Society, provided trusted information, helplines, training, and a community that reduces isolation and speeds up access to help. Lived experience began to shape policy and practice, ensuring that services consider anxiety, sensory needs and communication from the start.

Still, gaps remain: timely diagnoses are inconsistent, transitions to adulthood can be cliff-edges, mental health support is stretched, and social care funding pressures continue to bite. The next chapter must face those realities while embracing new tools that could transform daily life.

The Next 35 Years: What Research and Technology Could Unlock

Genetics and Precision Medicine

Advances in genomics will allow more precise subtyping, such as mosaicism and methylation patterns, leading to personalised care plans. RNA-based therapies such as antisense oligonucleotides and mRNA strategies could, in time, aim to restore or compensate for lost FMRP function. Gene editing, while still cautious, holds promise. Techniques like base editing and prime editing may one day correct the underlying expansion or its epigenetic consequences. For premutation carriers, research into FXTAS and FXPOI biomarkers and protective factors could deliver earlier detection and targeted prevention.

We must also be careful with language. Many researchers now prefer terms such as “altered copy of the gene” or “restoring the missing protein,” rather than phrases like “mutation” or “fixing genes,” to avoid misconceptions about altering identity or personality.

AI-Enabled Care and Decision Support

Artificial intelligence could help flag developmental profiles suggestive of FXS earlier, through speech patterns, attention markers, or learning trajectories. Decision-support tools can learn what works for an individual and nudge schools and services to implement them consistently. With appropriate safeguards, AI might forecast when anxiety spikes or sleep disruption are likely, allowing pre-emptive supports for children and respite for families.

Robotics and Assistive Technology

Home robots and smart devices could help with routines, prompting sequences for dressing or cooking, visual schedules synced to a person’s interests, and calming sensory environments that adapt in real time. Eye-tracking, AAC and wearable sensors will keep getting lighter and more intuitive. Discreet fall detection, wayfinding and travel-training aids could expand safe community access without compromising dignity.

Dedicated Fragile X Hubs: The Next Step in Support and Research

“What we need are dedicated hubs, co-created with parents and the Fragile X Society, delivering a holistic package of care not only for the affected individual but for the whole family, including unaffected siblings and parents. Carrier mothers and even grandparents may also need medical and psychological support at times. Hubs can coalesce national expertise and build confidence in commercial and academic research groups to bring new studies to the UK. Research will be the answer; everything else is stalling. With this in mind, we are developing plans with the University Hospitals of Leicester board for a national hub, in partnership with colleagues in Edinburgh.”

— Professor Julian Barwell, University of Leicester

What Researchers Say

“This has not been a sudden shift, but it is getting better, very much because of awareness raising efforts by the Society and fragile X families.”

— Professor Gaia Scerif, Oxford University

“Autism research is moving towards better understanding deficits in neuronal communication, and there’s an emerging interest in the role of glial cells, including microglia. For fragile X, restoring the missing protein is a particularly promising path.”

— Dr Marine Krisch, Leeds University

“Between 1985 and 2012, a lot changed in the rare disease landscape. The arrival of targeted therapies shows what is possible when scientific and regulatory systems align.”

— Dr Carina Schey, Fragile X Society Advisor

“Over the past 10 to 15 years, significant effort has gone into developing and testing targeted medicines informed by our growing biological understanding of fragile X. While none of these approaches have yet delivered clear success, the process has greatly expanded our knowledge and laid the foundation for future breakthroughs. Exciting advances are now on the horizon, with the potential of genetic therapies being particularly exciting.

At the same time, we must not lose sight of the support we can provide today. We already know that certain interventions can make a meaningful difference for individuals with fragile X. It is essential that healthcare providers understand how to deliver these effectively, and that families and caregivers are equipped and empowered to access the care and support they deserve.”

— Dr Andrew Stanfield, Senior Clinical Research Fellow, Edinburgh University

“Something that has struck me since I started conducting research into fragile X syndrome is how much families get out of connecting with one other and sharing their experiences. Whilst research can, and will continue to, offer crucial information to better understand and support families, parents and carers are the experts. That is something that I don’t think will ever change.”

—Dr Hayley Crawford, Associate Professor, University of Warwick

Dr Hayley Crawford reflects on the relatively recent shift in research towards seeking input from people with lived experience of fragile X syndrome to shape what research is conducted, how it is conducted, and how it is translated to clinicians and families.

Hope, with Discipline

The history of fragile X care in the UK proves that progress follows persistence. Families and clinicians turned limited knowledge into practical support, and a small charity became a national cornerstone for information, advocacy and community.

The voices of researchers confirm that the next phase will bring earlier diagnosis, more holistic support, and potentially transformative treatments, but also new challenges of access, affordability and equity.

The future will ask us to be ambitious and careful. Genetics may offer biological interventions, AI and robotics may bring tailored support and independence, social care can move from firefighting to prevention. But technology is not a substitute for relationships. The best outcomes still come from trusted people, clear information, and environments designed to reduce anxiety and amplify strengths.

If the next 35 years are guided by that ethos — science with humanity, innovation with inclusion — then children born tomorrow with fragile X will encounter a system that recognises them early, supports them wisely, and celebrates the full span of their potential. That is not naïve optimism, it is a plan, one the UK is well placed to deliver if we keep families’ voices at the centre and keep pushing forward, together.

“Families have carried the torch for 35 years. The next step is making sure that the science, the services, and society itself rise to meet their determination.”

— Pete Richardson, Managing Director, Fragile X Society