Undiagnosed Children's Day: Bonnybridge youngster's story of living with a syndrome without a name
Ten-year-old Brody McAteer is just one of thousands of children across the UK with an undiagnosed genetic condition which is so rare it doesn’t have a name.
The Bonnybridge youngster’s family find themselves in the same situation as so many others affected by a syndrome without a name (SWAN) are living with no answers to a myriad of questions.
Today is Undiagnosed Children’s Day and Brody’s mum Laura Rutherford shares his story in a bid to raise awareness of the charity SWAN UK which provides support to those with a syndrome without a name.
Laura explained: “Brody was always late missing milestones.
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"I used to notice a difference between him and his peers, other children at baby and toddler classes.
"He was slow to walk and he doesn’t talk at all.
"Just before he was two he had some seizures and we went to Forth Valley.
"From there people started to take notice more.
"He had lots of tests, but he's never had an over arching diagnosis.
"He’s had some diagnoses of epilepsy, hypermobility and autism, but he’s not had an umbrella diagnosis.
"Not having a diagnosis doesn’t necessarily affect him, but if affects the family as without a diagnosis we have no prognosis and don’t know what to expect in the future.”
SWAN UK is a charity run by the Genetics Alliance UK and it is a dedicated support network for families affected by an undiagnosed condition.
"I found out about SWAN online on Facebook,” Laura explains.
"They have been really supportive.
"I’ve made friends and we’ve had days out with members of SWAN, we recently went to Blair Drummond.
"When you have a child that’s disabled if you get a diagnosis you can search for Facebook groups or charities that support that diagnosis.
“But when you’ve not got a diagnosis you feel isolated and don’t know where to turn for help.
"It’s by speaking to others you find out that it’s the same for a lot of parents.
"Online commmunities are kind of like a lifeline for them.
"You can chat with other people that have been there advice and when it’s online it’s there 24/7 and is accessible.”
For Brody and his family - mum Laura, dad Gordon McAteer and seven-year-old sister Sydney – the future remains unknown.
Laura said studies had found a change in one of Brodie’s genes called SLITRK2.
She explained: "About a year ago a genetics team in France got in touch to say they’d noticed the same change in half a dozen other males around the world who all presented with similar issues.
"I gave permission for Brody, and our, data to be used to research this and one day it might become Brody’s primary diagnosis.
"I never knew before I had Brody that doctors don’t have all the answers. It was naive of me really.
"Science is constantly evolving.
"Brody is so much more than medical labels, diagnoses and genetics. But all of it has shaped the amazing person he is.
“He’s a happy go lucky boy and he loves life. We’re really lucky in lots of ways with him, but he has issues that he struggles with that make life difficult at times.
“Brody has made me want to make the world a better place for him and others like him.”
She successfully campaigned for Tesco to create larger nappies and worked with them on their Health Junior range. She has also worked on the Changing Places toilet campaign for the charity PAMIS and she’s a member of the Falkirk Area Disability Access Panel.
Across the UK, 6000 children are born every year with a genetic condition likely to remain undiagnosed – and Undiagnosed Children’s Day raises awareness of this.
Isabel Rundle, SWAN UK’s ehttp://www.undiagnosed.org.ukngagement and support manager, said: “Despite the advances in genomics, there are still thousands of families every year who start their journey into the unknown with no diagnosis.
"As some conditions are so rare many will still wait a long time for a diagnosis and without a name for a condition families struggle to access support and information they desperately need.
"Many undiagnosed children have profound and complex needs and some will die young.
"Families affected by a syndrome without a name share feelings of isolation and fear for what the future holds.
"SWAN UK brings families together who would otherwise be alone in their journeys.
"This Undiagnosed Children’s Day we want families who haven’t yet found us to know there is a place for them.”
To find out more about SWAN UK visit www.undiagnosed.org.uk
Laura writes a blog which can be found at www.brodymeandgdd.com or search for brodymeandgdd on Facebook.