Meet Emmy - the gorgeous Milton Keynes tot who's literally one in 70 million

A little girl in Milton Keynes has just been diagnosed with one of the world’s rarest genetic conditions that makes her literally one in 70 million.

Emmy, who is 18 months old, has baffled doctors since she was born because they could not find a cause for her severe neurological problems and her blindness.

Last week her parents Ellie and John finally got an answer. Emmy has Vici Syndrome - a disorder so rare that there are only between 100 and 150 other diagnosed cases worldwide.

Tragically the condition is life limiting, with some experts predicting an average life expectancy for just 42 months. But Ellie and John firmly believe their determined daughter will defy all the odds and live much longer.

Now they have launched a fundraising page to give Emmy the best treatments and the best specialist equipment and therapies she needs to navigate her world.

"We have great faith in her. She really is an extraordinary little person and she’s very stubborn, which is a family trait. Once she decides to do something, nothing will stop her,” said Ellie.

"We thought she’d never make very first baby milestone of smiling. But after eight months of John tickling her daily and blowing raspberries on her tummy, she finally smiled. Now she communicates through a delightful range of squawks and we know exactly what she means!”

Though Emmy’s smiles are still intermittent, her face always lights up when she hears the voice of her big sister Tilly, who is four/

After a perfectly normal pregnancy and birth, the first indications that something was wrong came on the Labour ward when Ellie tried to feed Emmy.

"She could latch but couldn’t suck or swallow….I drip fed her breastmilk for months before a feeding tube was fitted because I wanted her to have the best.”

Vici Syndrome affects the eyesight. Although Emmy’s eyes are perfect, her brain cannot give the signals needed for her to see and she is totally blind.

But she also has Schizencephaly on one side, another extremely rare developmental birth defect that affects the way the brain works. This means she has poor muscle tone and limited movement.

"Currently she’s determined to sit up though. She spends hours practising and is not going to give up,” said her mum.

Emmy loves her weekly sessions of hippotherapy horseriding, physiotherapy that uses the motion of the walking horse to provide therapeutic movement/ But these are expensive and the family has to pay privately.

She also loves switch toys, devices she can control by banging on a button, and her parents are hoping these will one day help her to communicate effectively.

The tot also has respiratory physiotherapy to help protect her lungs, plus regular play therapy.

Ellie said: “Our beautiful girl is blind, tube fed and unable to walk or talk. But she is also calm and content, even serene.

"Coping with Emmy’s condition has been the hardest thing we’ve ever had to deal with but Emmy herself has been the biggest ever blessing...She is our little miracle and we want her to have the best life possible.”

The family is raising funds through Just4Children charity. You can donate here.