A new integrated care hub for patients with Fragile X syndrome and their families has officially launched at the Leicester Royal Infirmary (LRI).
The hub – which is the first of its kind in the UK – is being co-led by Clinical Geneticist, Professor Julian Barwell and parents Chris and Alex McQuade, supported by the Fragile X Society, UHL’s research department and Leicester Hospitals Charity.
It will serve as a space for UHL’s clinicians and partner organisations to work with families from across England to understand and meet their needs. Its twin aims are to develop a holistic care assessment process for affected children and young people, while serving as a national centre of excellence for research into Fragile X syndrome, which is a genetic condition affecting around one in 4,000 males and one in 6,000 females.
Signs and symptoms of the condition typically include learning disabilities, communication and behavioural issues, along with a distinctive appearance in boys, which becomes more noticeable as they get older. Many people with Fragile X syndrome are co-diagnosed with autism. At least 17,500 people are known to be affected by Fragile X syndrome in the UK.
The hub’s inaugural clinic, held at UHL’s clinical genetics department, LRI focused on support that can be provided to the family unit, with a particular emphasis on maternal health. Services and organisations taking part on the day included UHL’s clinical genetics and gynaecology services; the Fragile X Society; the Relationship Centre, a Leicester-based charity delivering counselling and psychotherapy services; Menphys, a charity supporting children and young people with disabilities, and the Leicestershire Partnership NHS Trust’s adult learning disability team.
Professor Julian Barwell, Consultant Clinical Geneticist at UHL, said: “The new Fragile X Syndrome Hub will consolidate local expertise to build a more holistic approach to the support we provide for people with the condition and their families. We want to make sure that a genetic test result becomes the beginning of our commitment to care, not the end.
“At the hub, we will support families’ wider psychological and clinical needs, and create opportunities to co-design and develop future research projects. We hope the national hub will help attract further research opportunities for families keen to access novel treatments and therapies through ethically-approved national and international trials, within UHL’s Research Space clinical research facility.
“This is about giving the voice to individuals with Fragile X, and understanding that if we support the wider family, we give them the best chance to thrive. I’m very grateful for the support provided by colleagues at UHL and Leicester Hospitals Charity to help us reach this stage.”
Chris and Alex McQuade, from Leicester, are parents of two children with Fragile X syndrome, who work to raise awareness of the condition, and improve the support that is provided to families.
Alex said: “Our family have had quite a journey. It can be hard to get a diagnosis, and even after our children were diagnosed, we felt quite alone and unsure of where to go next.
“When we were put in touch with Julian, he was so willing to help and advise us. Julian is very keen to support the community as a whole, and look at each family’s situation from a holistic point of view. During that time, we talked about how the support offered to Fragile X families could be improved, so it is amazing to be here at this launch of the hub.
“Fragile X syndrome is thought of as being quite rare, but there are lots of people in the same situation as us. This will be a place where many more families can connect with each other, and be supported, so that children with the condition have the best chance of going on to become independent as adults.
“We hope that this hub will become the first of many of its kind in the UK, and that it will also become well-known in its own right as a centre of excellence, and the home of research into Fragile X syndrome.”
Pete Richardson, Managing Director of the Fragile X Society, said: “We were delighted to be in Leicester for the successful launch of the new Fragile X Hub. For families affected by Fragile X, meeting with different service providers and finding professionals who truly understand the condition can be hugely difficult. The opening of this hub is an enormous step forward in changing this, by bringing expertise together and giving people a clearer route to the specialist advice and support they need.”