How UK mum's selfie with baby resulted in discovery of ultra-rare disorder

A UK mum's selfie with her baby led to him being diagnosed with an astonishingly rare genetic condition.

Chloe Storer from Derbyshire snapped a sweet photo with son Jake Meikle, but it was only when she looked back at the picture that she realised the right side of his face was drooping and partially paralysed. 

Terrified he was having a stroke, the 34-year-old took Jake to hospital, where he has had regular appointments since being born five weeks early.

Chloe Storer and her young son Jake Meikle
Chloe Storer took this adorable selfie with her baby son Jake. Photo credit: Caters

After seeing the photo, doctors diagnosed the boy with micro duplication 1q21.1, a chromosomal condition of which there are only 200 known cases worldwide.

While little is known about the ultra-rare disorder, it's associated with a higher risk of cognitive disabilities as well as autism and epilepsy, and can lead to heart problems and hearing loss later in life.

Facial paralysis is a potential symptom, although Ms Storer says doctors have been unable to make a definite link between Jake's drooping face and 1q21.1.

She told Caters her son's development has been delayed because of the condition, and at 16 months has only just started walking.

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

Because the condition is so rare, she's been unable to find other parents in similar situations and now intends to set up her own support group for children with chromosomal disorders.

"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," she told Caters.

"It would be a lifeline - there would be someone to empathise rather than sympathise."

Despite her son's struggles, she says Jake is happy and determined to keep defying expectations.

"He wants to do more, and he even exceeds what I expect from him. Nothing fazes him or me anymore."

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