Toddler diagnosed with ultra-rare disorder after mum notices something in photo

This mother detected her son’s ultra-rare condition thanks to a photograph she took as he began suffering from stroke-like symptoms.

Chloe Storer, 34, was taking the photo of Jake Meikle, now 16-months-old, when she spotted the right hand side of his face was paralysed.

Jake had been in and out of hospital since birth after he stopped growing at 30 weeks and had to be delivered five weeks early.

But it was only when Chloe showed doctors her photo of Jake’s face that he was diagnosed with micro duplication 1q21.1 – a condition so rare that only 200 people are diagnosed worldwide.

Jake’s disorder can cause facial paralysis and it could even leave him with learning difficulties, heart conditions and hearing loss.

The mum-of-one, from Swadlincote, Derbyshire, said: ‘It becomes more obvious when he smiles or eats, and initially he had problems with his eye.

‘I hadn’t noticed his face appeared to be drooping on the one side until I was taking a photograph of him.

‘They’re not sure why his face is paralysed, and whether it’s linked but because the condition is so rare, we’re still learning about it.

‘Initially I didn’t notice but it becomes more obvious when he smiles or when he cries.

‘With hindsight, Jake was premature and he was five weeks early.

‘He’d stopped growing at 30 weeks and there had been no explanation for that from the doctors.

‘They made the decision to induce early, and they began testing on him straight away – they’d assumed he’d had a stroke initially but there was more to it.

‘When they first told me his diagnosis, it sounded like a jumble of letters, and I felt very much out of my depth – after all only 200 people have it worldwide.

‘As far as we know, Jake’s future is completely unknown – the doctors predict things like learning difficulties, heart conditions and hearing loss, I’m hopeful it won’t affect him too much, but I’m still learning all the time.

‘Right now, I notice that Jake stands out because he’s very small and he has delayed milestones.

‘He only started walking this week, and he couldn’t roll or sit up at the normal times.

‘He sometimes struggles eating, and when he smiles, I notice his face, it’s almost like it could be a facial nerve.’

Chloe has since decided to begin her own support group in the hope of finding other ‘chromo cuties’ after struggling to find any mum and baby groups she could join.

She added: ‘I want Jake to find someone like him – most groups are five years and over, and I just wanted to find someone in my situation.

‘It would be a lifeline – there would be someone to empathise rather than sympathise.

‘Sometimes I struggle with it, and what the future may hold for Jake, but when I see him hit milestones that we didn’t expect, like when he started walking last week, it hits home.

‘Jake’s condition is unknown but he keeps defying expectations.

‘He’s happy, he’s always smiling and he’s so determined.’