Fragile X syndrome is the most commonly known cause of inherited intellectual disability, affecting around 1 in 4,000 males and 1 in 6,000 females.

It causes a wide range of symptoms, including intellectual disability, features of autism, hyperactivity, short attention span and challenges with social interaction. It is caused by a change in the FMR1 gene which is located on the X chromosome and can be passed down through generations.

This new partnership will raise awareness of Fragile X syndrome and help develop the foundation for future research, such as implementation of new laboratory approaches and computer-based modelling.

It will also help to ensure families in Northern Ireland are better placed to take part in future research studies and establish new evidence to drive advocacy for health and social care improvements to support and treat Fragile X syndrome.

Professor Amy Jayne McKnight, who leads the Rare Disease Research team for Queen's University Belfast notes: “The exciting research created through this partnership will put Northern Ireland in the driving seat, developing a Fragile X registry and associated bioresource for Northern Ireland, potentially extending research to Fragile X analysis across the four UK nations and internationally."

Pete Richardson, CEO of the Fragile X Society says: “Despite an estimated 1 in 250 carrying the gene which could be passed on to their children, there is a surprising lack of awareness around Fragile X syndrome. Especially within Northern Ireland.

"Fragile X itself causes difficulties with learning, as well as social, language, emotional, behavioural and attention problems. But carriers of the Fragile X pre-mutation often won’t know they are affected. Women may have decreased or abnormal ovarian function, which can lead to infertility or fertility problems, irregular or absent periods, or premature ovarian failure.

"This is a hidden condition. When a woman shows signs of premature menopause, being a Fragile X carrier is often the last thing that doctors will investigate, if at all.”

Dr Caoimhe McKenna is a Clinical Geneticist at the Belfast Health and Social Care Trust based in Northern Ireland. She works with Fragile X and says: “I meet families navigating the challenges of Fragile X syndrome. It is a rare condition, and despite being commonly tested for, new diagnoses are seldom made outside of known families. This can leave families feeling isolated and struggling to find support.

"Fragile X affects children in many different ways, and sadly, their needs are sometimes overlooked or delayed due to assumptions about the condition. Girls with Fragile X mutations can also face significant difficulties, and it is important that these are recognised. Families deserve timely, compassionate care that responds to their child’s individual needs.”

Claire Hawkins is a mother of two girls with Fragile X syndrome. She comments: “I am the parent of two children with Fragile X syndrome, and I am a premutation carrier of Fragile X. I have always been a bit anxious but since my children’s diagnosis this has multiplied, coupled with the guilt of passing this on to my children.

"Parenting can be fun and filled with joy, but it is also exhausting. Juggling appointments, managing schedules and being an early waker takes its toll. Not being able to find care for my teenage daughter has resulted in me being a full-time carer which is not the life I had planned for myself.

"Carers allowance is not enough to do anything in my free time other than go for a walk and my friends all work. I have my daughter all the time, so a social life is non-existent and while most people my age have extra money for holidays and tucking away into private pensions, I miss out. So caring is tough, really tough.”

Emily Kemsley is a mother of two boys with Fragile X syndrome: “Being a parent of children with, and carrier myself of Fragile X syndrome, is a daily rollercoaster of emotions. Highs and lows, continuous worry, feelings of guilt and failure, mixed with overwhelming feelings of pride and love.

"The unknown of every day, and what will happen in the future is the scariest thing. Most parents worry about how their children will do at school, if they will pass their driving test, and if they'll have a family of their own and settle down.

"I have cried so much about thoughts of the future, and many tears have also been shed with everyday challenges and exhaustion because of their impulsive and unpredictable little personalities! Some days I feel so weak and helpless, and I want to be scooped up by my own mum and told that everything is going to be ok.

"Other days this immense feeling of strength comes, and I feel like I'm capable of doing anything to fight for everything they need to be the best little versions of themselves that they can possibly be.

"Being a parent to two children with Fragile X syndrome is like nothing I could have imagined or predicted. But my boys are both absolutely amazing, and I'll always do everything I possibly can to support, love them, and give them the very best I can give them.”

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