Darlington boy with rare condition he's the only one in the UK to have it
Three year-old Connor Murphy has been identified as having HIVEP-2
A three year-old boy in Darlington has a very rare condition that he is the only person in the UK to have it.
Doctors say Connor Murphy is also one of 16 children in the world to be identified with HIVEP-2.
It is after it became clear he was not hitting his developmental milestones, as he cannot walk unaided and is non-verbal.
His dad, Ben, said: "Because the disease is so rare it can't actually be diagnosed so they called it a 'variant of uncertain significance', which at the time meant absolutely nothing to us and meant nothing to anyone that we'd met or talk to, because everyone just asked the same question like 'what does that mean?'.
"At the time we really didn't know what it meant because the doctors told us it was potentially this disease called 'HIVEP-2'. We Googled it and nothing came back, so then we were a bit confused and scared about the fact that we've just been told that Connor potnetially has this issue that we have no idea about, the doctors have no idea about and they'd have to go away to find some research papers.
"It was difficult because then they told us he was the only case in the UK as well, so we had no support network and no understanding.
"Connor's under an occupational therapist, physio, a dietician, he goes to hydrotherapy when he can, he's under an ophthalmologist for issues with his eyes as well. He's under a speech and language therapist to help him communicate because he's non-verbal and he's got a wheelchair because he can't walk.
"It was difficult at first like even going to children's parties with Connor was upsetting for us as a family. There were people asking us if he wanted to join in games, go on the bouncy castle, if he wanted to play pass the parcel but at this age he wasn't even able to sit up straight on himself, he wasn't able to crawl or anything and the other children were running around, bouncing on the bouncy castle, playing games and pass the parcel. It was just difficult to even be there to watch."
Ben says there is hope for Connor's future as there is another child in America with something similiar. They are older and have eventually been reaching developmental milestones. The American family have been blogging the progress.
Ben added: "Because the doctors didn't know whether Connor would ever walk before we found out about this other child, we would just be like 'Connor's forever going to be in a wheelchair, Connor's never going to walk, he's never going to talk' and all of a sudden we were reading this blog and it was like 'he might walk, he might stand and I might be able to kick a football with him one day and he might even be able to ride a bike.'"