Mum of Scarborough boy with super rare condition calls for testing on newborn babies
11 year-old Noah has Pura Syndrome
The mum of a boy with a super rare condition in Scarborough is calling for tests to be done when babies are born.
11 year-old Noah has Pura Syndrome which affects his physical and cognitive development and he was left undiagnosed for five years.
There are around 380 cases worldwide or around six in the UK.
His mum Lisa Gilbert said: "He's got all over low muscle tone so it affects his walking and his ability to communicate. If he's happy he'll smile and clap his hands and if he's sad then he cries. He has a lot of chest problems and we have trouble with eating sometimes but he loves food. He'll eat all day long if you let him.
"At the moment Noah is good. Very naughty and very cheeky. Having a two year-old in an 11 year-old's body he destroys the house but he's just so happy. He loves life and loves being outdoors.
"When he was born it was a normal pregnancy so nothing was picked up on any scans. It was only when he was born that he was very floppy. He was known as a floppy baby and had congenital hypertonia and then as he got older it came into global developmental delay.
"Every test we had came back negative. There was just nothing and it was very frustrating. He was classed as an undiagnosed child. We then went into a study called the Triple D study for a couple of years and then eventually it came back with a change in his Pura gene, which then gave us a diagnosis of Pura Syndrome.
"I was devastated in some ways but then to know that there was actually something because you drive yourself mad thinking 'is it me? Am I seeing these things? Will he get better?' So it was bittersweet especially when you're doing paperwork to get help with things because you need a diagnosis.
"It's just trying to get those tests in there when they're first born if there are things that aren't quite right. A lot of the children that are born have respiratory problems and for those children, to know there's a condition out there called Pura Syndrome to have that test done to see if it could be that would be amazing."