Charlie was born on the 16th of march 2015. By an emergency c-section.

After his birth he was rushed into the special care unit at Boston pilgrim hospital. From there he was transferred out to queens medical, Nottingham.

That was when we got some answers to a few questions. We found out that he had a cleft palate, the middle part of his skull was already fused together, he had a hole in his heart and was missing the middle part of his brain, he had underdeveloped kneecaps, Amongst other things, he also had very long fingers and toes. It was at this time we were told he would need a tracheostomy and a feeding tube.

We were advised to enter Charlie in a study that looked at all of Charlie's DNA. To see if they could find out what disorder/syndrome he had. But we would have to wait 2/3 years for the results. It's a very in depth study.

Luckily our genetic consultant added some of Charlie's information into another study and if the results came back with Charlie missing this certain gene (Kat6B gene), he would have this certain syndrome.. it came back that Charlie had this missing gene and he had Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. With an extra rare mutation of the syndrome. (the fused skull, no other child had that before).

We also found out that Charlie is a one in a million, and only one in the U.K.. The extra mutation makes him extra special. Unfortunately it does affect males differently to females. Charlie's joints are stiff starting with the hips, knees, and ankles which makes movement hard for him. The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability. Charlie has weak muscle tone that has lead to breathing and feeding difficulties. We're hoping as he grows that will change. charlie‘s been tracheotomy free since january 2018. And inder went an operation to close the left over hole in early july 2018.

The SBBYS variant of Ohdo syndrome is characterized by a mask-like, non-expressive face (Which we argue, Charlie has many facial expressions). Meaning prominent cheeks, a broad nasal bridge or a nose with a rounded tip (we say a button nose), a narrowing of the eye opening and droopy eyelids. About one-third of affected children are born with a cleft palate.

(Taken from what charlie’s mum wrote on his facebook page. @acharlielewisjounery ).

It's been a crazy journey so far for charlie‘s family. Full of ups and downs. With Charlie being so rare, his family all have to follow his lead. And it takes its toll on his parents with hardly any help or free time. It would be so lovely to try and raise some funds so that they can either have some family time. Or so that charlie’s mum and dad can have some time together. Anything would be a massive help to this family.

Charlie’s on BBC1 panorama ‘fighting for my family‘ and BBC1 breakfast news.