Family's determination leads to launch of UK's first Fragile X holistic care hub

A family's determination to improve care for people affected by Fragile X syndrome has helped bring about the launch of a pioneering new NHS hub in Leicester.

Chris and Alex McQuade, whose two children have Fragile X syndrome, began asking what could be done differently after experiencing first hand how difficult it can be for families to find joined up specialist support following a diagnosis.

Those conversations, initially with Consultant Clinical Geneticist Professor Julian Barwell, have now developed into the new Fragile X Hub at University Hospitals of Leicester NHS Trust (UHL), supported by the Fragile X Society, UHL's Research team and Leicester Hospitals Charity.

The Hub, based at Leicester Royal Infirmary, is believed to be the first of its kind in the UK and has ambitions to bring together clinical care, family support and research in one place.

For the McQuade family, its launch marks the culmination of an extraordinary journey from parents looking for answers for their own children to helping shape a service that could ultimately benefit families across the country.

Alex McQuade said: “Our family have had quite a journey. Getting a diagnosis can be difficult, but even after our children were diagnosed we felt quite alone and unsure where to go next.

“When we met Julian, he really listened to us. We started talking about what families actually need after a Fragile X diagnosis and how different services could work together rather than families having to find their own way through everything.

“To see those conversations turn into a real clinic is quite emotional. We started this because of our own children, but very quickly realised that there are many other families going through similar experiences.

“If what we have helped start can make that journey easier for another family, that means an enormous amount to us.”

Bringing care around the whole family

Fragile X syndrome is an inherited genetic condition and the most common inherited cause of learning disability. It can affect learning, communication, behaviour and development, although people are affected in very different ways. Autism and ADHD are also more common among people with Fragile X syndrome.

The effects of Fragile X can extend beyond the person who has the condition. Because it is inherited through changes in the FMR1 gene, other members of the family may also be affected by Fragile X associated conditions.

For some women who carry an FMR1 premutation, this can include Fragile X associated primary ovarian insufficiency, which can affect fertility and lead to an earlier menopause. Some older carriers can also develop Fragile X associated tremor/ataxia syndrome.

This wider impact on families is one of the reasons the Leicester team wants the Hub to take a more holistic approach.

Its first clinic brought together clinical genetics and gynaecology alongside the Fragile X Society, counselling and psychotherapy support from The Relationship Centre, children's disability charity Menphys and members of Leicestershire Partnership NHS Trust's adult learning disability team.

Rather than expecting families to approach each service separately, the long term aim is to bring relevant expertise around the family and develop care according to their individual circumstances.

Professor Julian Barwell, Consultant Clinical Geneticist at UHL, said: “We want a genetic test result to be the beginning of our commitment to care, not the end.

“Fragile X does not just affect one person in isolation. It can have implications for parents, siblings and the wider family, and those needs can change considerably over a lifetime.

“The Hub gives us an opportunity to listen to families, understand what matters to them and bring together the clinical and psychological support they need.

“It will also allow families to help shape future research and, as the Hub develops, we hope Leicester can play an important role in attracting Fragile X research and clinical trials to the UK.”

‘One family asked for something better’

The Fragile X Society has worked alongside the McQuade family and Professor Barwell as plans for the Hub have developed.

Pete Richardson, Managing Director of the Fragile X Society, said:

“What makes this particularly special is where it started. Alex and Chris were parents trying to get the right help for their own family. Instead of simply accepting that services were fragmented, they asked whether things could be done differently.

“They found someone in Julian who was prepared to listen, and between them an idea that began around one family's kitchen table has grown into an NHS service that could eventually help families from across the country.

"That is a remarkable achievement.

"Families affected by Fragile X often tell us that one of the hardest things is finding professionals who understand the condition and then trying to join up genetics, health, education, social care and family support themselves.

"No family should be handed a diagnosis and then feel they are on their own.

"The Leicester Hub is an opportunity to start doing things differently. It brings expertise together, but just as importantly it starts with the family and asks what they need.

“We are very proud to have supported its development. Seeing the first families come through the doors felt like a significant moment for the Fragile X community.

“One family wanted something better. They spoke up, someone listened, and now many more families could benefit. I think that is a wonderful story of what families and the NHS can achieve when they work together.”

A hub with national ambitions

The Leicester team hopes the Hub will develop progressively, learning from families who use the service and building links with specialists and researchers elsewhere in the UK.

Alongside improving access to joined up clinical support, the Hub aims to create opportunities for people affected by Fragile X to become more involved in research and to help researchers better understand the priorities of families themselves.

Chris McQuade said: “Our hope is that Leicester becomes somewhere families know they can turn to and somewhere professionals can build real expertise in Fragile X.

“We would also love what is happening here to encourage similar services elsewhere in the country.

“This started with our family, but it was never just about us. It is about making the path a little easier for the families who come next.”