Parents on children's 'emotionally tricky' diagnosis

Parents on children's 'emotionally tricky' diagnosis

Just now

Chance Litchfield

and

Ben Carr

,

East Midlands

The parents of two "amazing" children with a genetic condition say dealing with their diagnosis "emotionally is very tricky".

Chris and Alex, from Groby in Leicestershire, have three sons - two of whom were diagnosed withFragile X syndrome- and have "significant developmental delays".

The condition causes physical abnormalities, behavioral issues and a range of other health problems, including developmental delays and learning disabilities.

Alex said: "They are both amazing children, they struggle very much academically, they both go to a special needs school."

"They have significant social anxiety, however, they have a diagnosis of autism, but autism doesn't quite fit, because they want to be social and they want to engage," Alex added.

"We weren't getting the diagnosis for just one child, we were being told that two of our children had a disability that was going to mean that they'd need care for life."

She said they knew two of their sons had "something going on" from an early age but medical professionals could not pinpoint exactly what.

Chris said: "When you first receive that diagnosis and there isn't that proactive care happening.

"As a dad, you feel like you want to protect the family, you want to help and support and you don't know how to do that."

Alex added: "You're not given a diagnosis and you don't know what to do.

"Now there's a plan, there's somewhere that's going to know and understand your needs and help to support and push out different pathways into the right direction and help get the therapies that your children need.

"I'd always say if you have a child that has developmental delays and has signs of autism, but you don't feel like autism quite fits, that's when you need to start thinking about Fragile X syndrome."

Professor Julian Barwell, a consultant clinical geneticist at University of Hospitals Leicester (UHL) NHS Trust, said boys "tend to be affected more because they don't have a second copy of the gene".

He added: "Genes are like recipes that help to build and maintain the body and what the Fragile X gene does is it helps make connections in the brain.

"If this particular gene doesn't work very well, it can increase the risk of additional needs, autism, ADHD [Attention Deficit Hyperactivity Disorder] and sometimes agitation as well.

"Many children with Fragile X [Syndrome], for instance, are unable to speak. So we're here to help them."

Now a UK-first care hub has been set up for patients with Fragile X syndrome and their families at Leicester Royal Infirmary.

The "twin aims" of the care hub 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", a spokesperson for UHL said.

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.

UHL said the hub would offer counselling to families, support from clinical genetics and gynaecology services and support from the Fragile X Society.

Alex said "now there's a plan" for families touched by Fragile X syndrome, the "world was slightly less scary" as a result.

Chris urged families who had been affected by Fragile X syndrome to reach out to the hub to register interest in its services.

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