A mother helped detect her son’s rare genetic disorder after a photograph she took revealed stroke-like symptoms.
Chloe Storer, 34, was shocked when she noticed that her face of her son Jake Meikle, now 16 months old, was drooping on the right side.
Jake had already been back and forth to hospital appointments having genetic testing since birth after he was born five weeks prematurely.
But when Ms Storer showed the images of her son’s face from the photographs she’d taken at home, doctors were able to get a better idea about his condition.
Jake was diagnosed with micro duplication 1q21.1 when he was seven months old, which only 200 people are severely affected by worldwide, according to a charity database.
Medics are still trying to figure out Jake’s future health, but the condition can cause abnormal facial features, learning difficulties, heart conditions and hearing loss.
Jake Meikle was diagnosed with a rare genetic condition after his mother, Chloe Storer, took this photo. She noticed stroke-like symptoms and showed the photo to doctors
Ms Storer, 34, was shocked when she noticed that her face of her son Jake Meikle, now 16-months-old, was drooping on the right side
Jake was born five weeks prematurely (pictured) after doctors noticed he had stopped growing at 30 weeks. He had been having genetic testing to figure out what was wrong
Ms Storer, 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.’
Jake was premature and he was five weeks early as doctors noticed he had stopped growing at 30 weeks without an explanation.
Ms Storer said: ‘They made the decision to induce early and they began testing on him straight away.’
Doctors had noticed Jake had some paralysis on his face, and believed he had a genetic disorder, but it did not become clear until the photos revealed drooping on the right side.
They initially thought he had a stroke until the diagnosis, but the photos revealed a slight facial deformity that is a symptom of micro duplication 1q21.1.
Ms Storer said: ‘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.’
Jake was premature and he was five weeks early as doctors noticed he had stopped growing at 30 weeks without an explanation. Pictured after birth
Photos revealed a slight facial deformity that is a symptom of micro duplication 1q21.1, which Jake was diagnosed with. Pictured at his home with Ms Storer
The symptoms of the condition most often include a larger head, slightly unusual facial features and in Jake’s case, facial paralysis, according to doctors
Ms Storer said Jake’s future health is uncertain but doctors have predicted he may have learning difficulties. He has struggled to reach milestones so far
It is believed the chromosome change occurs in about three in 10,000 individuals in the general population, according to the US National Library of Medicine.
But it’s rarer for people to actually suffer health problems because of it, and many people are likely never diagnosed because they don’t show signs.
UNIQUE, a UK based rare genetic disorder support group, say the prevalence worldwide is unclear, but they are aware of 200 people globally that show clear symptoms.
These most often include a larger head, slightly unusual facial features and in Jake’s case, facial paralysis, according to doctors.
Those who have the duplication, often parents of those affected, may have no identified physical, intellectual, or behavioural abnormalities,
Ms Storer said: ‘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.
Medics are still trying to understand how Jake will be affected, but it can cause abnormal facial features, learning difficulties, heart conditions and hearing loss
After struggling to find any families battling the condition, Ms Storer has since decided to begin her own support group. Pictured with Jake
‘Jake initially couldn’t close his right eye and I don’t think he can feel much as he sticks his finger in his eye.’
After struggling to find any families battling the condition, Ms Storer has since decided to begin her own support group.
She plans to find other parents and cater for those who have children with rare chromosomes disorders.
She said: ‘The most help I’ve had has been through the charity UNIQUE who can answer some of my questions, and provide information and leaflets.
‘But 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.’
Despite the future being uncertain, Ms Storer said Jake keeps defying expectations.
She said: ‘He’s happy, he’s always smiling and he’s so determined.
‘He wants to do more, and he even exceeds what I expect from him – nothing phases him or me anymore.
‘No matter what the future holds, Jake and I will take it on together.’