Four-year-old Connor Murphy, from Darlington, County Durham, is just one of 20 people in the world with a mystery genetic condition – but his dad says he’s still an ‘unstoppable force’
A four-year-old boy is just one of 20 people in the world who suffers from a rare mystery condition. Connor Murphy, from Darlington, County Durham, was told he had a life-changing condition that doctors were not able to officially diagnose as there isn’t enough known about it.
Connor’s dad, Ben Murphy, 34, said his families lives were rocked by the “bombshell” news that landed at Connor when he was just two years old. Ben, a military policeman in the British Army, revealed how the family’s struggles to do what is right for their boy and revealed the signs that made them take Connor to the GP.
Doctors said Connor had “Genetic Alteration Variant of Uncertain Significance,” labelled “HIVEP-2,” which means his genetic condition cannot be officially diagnosed. The NHS has recognised just 23 children across the globe to have this mystery condition.
Ben revealed with the particular type of genetic alteration associated with the condition that Connor has, it is more likely he is only one of two children in the world with this, and the other child is in Florida, according to Manchester Evening News.
Connor is not able to fully understand what is going on and he cannot talk, but he is able to make some sounds, gestures and has started to communicate through Makaton sign language. The four-year-old is also unable to stand or walk unaided, due to the way his condition affects his muscles.
Ben said: “His muscles are a lot weaker and a lot more flexible, so he’s hyper-flexible as well. You could stuff him in a shoebox; he folds down and he sleeps with his feet next to his head.”
He added: “He has his own NHS wheelchair which is bright orange with like a superhero on the wheels which he decorates with all his stickers. We’ve attached bicycle wheel lights and stuff to make it stand out, so make him a bit more happy with what he’s go.” Connor’s interior muscles are also affect, meaning he struggles with digesting food.
His dad explained that Connor started to show signs when he was a baby as he was “really delayed in all of his expected targets”. Ben said: “He wasn’t lifting his head up, wasn’t rolling over, and wasn’t able to eat properly when he started like weaning onto food.
“He wasn’t able to sit up properly. He wasn’t floppy, but he was weak. He wasn’t able to crawl at all when he got to crawling age. He was always six months, 12 months and then 18 months behind every time we got to the next major milestone.
“So one of the nurses came out to visit the house and basically did a two-year assessment with him.”
The dad said Connor was only able to tick off one of 40 milestones expected at his age.
He added: “We started nursery a little bit later because of Covid. He’d been in for about a week when the manager at the site took us in and was like, ‘You need to go and see a paediatrician because there’s something not right with Connor. He’s not hitting any of his milestones, and we’re just concerned about him.”
After seeing a GP they were quickly referred to a specialist paediatrician – who took a blood sample and sent it for genetic testing. The results came back around six months later and Ben said the news was like a “bombshell”.
He said: “I think it was disbelief at first, like, can this be real? For that to like, happen to us… It’s not impossible, but it’s almost impossible. You know? The odds are ridiculous.”
Despite his condition, Ben revealed Connor “just gets on with life and nothing can stop him”, adding: “He has the ambition and the drive to just do whatever he wants to do. Like, if you leave some chocolate on the side, he’s going figure out a way to get to that chocolate.
He added: “He’s an unstoppable force. There’s no limit on what he can achieve. It’s just going to be a case of how much support we get along the way to get there.”
The dad added that the lack of research surrounding Connor’s condition was the biggest frustration but his family, job and online communities for parents of children with genetic conditions have been lifelines. Ben said: “It’s a constant battle in making sure that we’re just not letting him down by understanding everything that he needs all the time, whether that’s physically, emotionally. Whether he’s just trying to talk to you and he wants to have a conversation.”