A mum has shared her heartbreak after her son was diagnosed with a genetic condition – and he’s the only person in England with it.
Lyndsay Williams had become “fed up” of noticing that her son, Harrison, was “different”.
Especially as nobody had an answer as to why.
The 43-year-old had spoken to countless medics in a bid to find some closure, but it took seven years before it was confirmed.
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And it turns out Harrison, now 15, has a condition that affects just one in 25 people across the globe.
“It was hard to watch him growing up,” the business owner, from Preston, Lancashire, told Need To Know.
“There was always a constant reminder that he was different from the other kids.
“I always had a niggling suspicion that Harrison’s case was quite rare and that’s why we struggled to find an answer.
“But I tried to bury it in the back of my mind, settling on a simple explanation instead.
“Deep down, though, I knew I couldn’t give up.
“Often, I blamed myself and worried I had done something wrong.”
Lyndsay recalls Harrison being born with a distorted and swollen face and neck.
After multiple checks, she and husband, Mark, 54, were told everything was fine.
Since he was their first child, they had nobody to compare his progress to.
Over time, he was diagnosed with dyspraxia, along with global developmental delay and moderate learning difficulties.
Harrison had occupational therapy and physiotherapy, though it didn’t help him.
He struggled to climb, jump and feed and often did “random” gestures with his hands.
Lyndsay thought he might be autistic.
She said: “Whenever I researched the symptoms, they didn’t match my chatty boy.
“We tried everything, yet he still struggled.
“When we were told he wasn’t meeting his academic milestones, Mark and I shelled out for a pricey tutor to help him catch up.
“Even then, Harrison couldn’t retain anything.”
The pair decided to go through genetic testing in 2018.
And then, seven years later, they got a call to confirm what was actually going on.
The gene, MSL2, had just been identified and it appeared that Harrison had a variation of it.
According to the National Institute of Health, there are only 25 known cases worldwide.
And it’s alleged that he’s the only case in England.
The condition causes mobility issues, speech delay, epilepsy, autism, visual problems and physical characteristics, including deep-set eyes and low ears.
Neither Lyndsay nor Mark carry the gene and so it was determined that it had randomly mutated in Harrison.
Now, they’re in a small Facebook group of kids like him.
But, given it’s newly discovered, it’s unclear what the future holds.
She added: “We’re learning and adapting all the time.
“Harrison, despite being a teenager, loves Mario Kart, teddies and Disney.
“I’ll have to help him for life with practical things like showering.
“But I hope he’ll get to do his exams and work placement.
“He knows he’s different – and that’s okay.
“He wears a lanyard explaining he’s got a hidden disability.
“And while he’ll always have challenges to overcome, Harrison remains a happy soul.
“I urge other parents who are struggling to get answers about their children to ask their doctor about genetic testing.
“Now we know what we’re up against – at least for now.”
