There’s only one Charlie - toddler’s condition means he is unlike anyone else in world

Jordan with Charlie-Lewis Downes.
Jordan with Charlie-Lewis Downes.

There is no-one in the world like two-year-old Charlie-Lewis Downes.

The Swineshead toddler has an extremely rare genetic condition which means he has a cleft palate, undeveloped kneecaps, and the way his skull has fused means he is unlike anyone else living with the disorder.

Jordan with Charlie-Lewis Downes.

Jordan with Charlie-Lewis Downes.

He was also born with a hole in his heart, missing the middle part of his brain and has very long fingers and toes. He needs a feeding tube and has undergone a tracheotomy.

Despite all of this his parents - Jordan, 26, and Ashley, 25 - and little Charlie remain extremely positive.

So much so they have set up a Facebook page, ‘A Charlie-Lewis journey. To infinity and beyond’, to offer help and support to other families of babies born with disabilities.

“Charlie is my favourite thing to talk about,” said Jordan, who admits it took her two weeks to tell friends of his birth. “It was really scary at first. We just felt numb.

But we are really proud of Charlie. We just want to raise awareness and get his story out there.

Mum, Jordan

“But we are really proud of Charlie. We just want to raise awareness and get his story out there.”

She added: “Ashley was a bit unsure at first because you just want to do everything you can to protect your child; people do sometimes stare at us when we are out, but we feel ready to do this now.”

The first the couple knew that Charlie could face life-limiting health complications came after Jordan underwent an emergency caesarean section at Pilgrim Hospital. From there Charlie was rushed into the Special Care Baby Unit before being transferred to the Queen’s Medical Centre in Nottingham.

Later DNA testing showed he had a condition officially known as Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome.

“The way Charlie’s skull has fused means he is the only one in the world like it,” said Jordan. “With Charlie being so rare, we all have to follow his lead.”

The Facebook page features pictures and videos showing the progress being made by Charlie, who celebrated his second birthday on Thursday. “Charlie is always so happy – he’s always smiling,” said Jordan.

And what helps to bring a smile to his face is being able to enjoy the same simple pleasures as any two-year-old without such limiting conditions. That is why a friend has also set up a JustGiving page – aiming to raise £1,000 to help to provide specialist equipment to enhance his quality of life.

“We are so grateful to everyone who has donated – everyone has been so kind,” said Jordan. “We are also very lucky that we have got such great support from family – with his grandparents trained to look after him.”

The next big milestone for the young family is when Jordan and Ashley marry next October.

l To find out more about Charlie search for his story on Facebook and look up ‘Charlie-Lewis journey’ on the JustGiving page.