Boy, 3, is only person in the UK with rare genetic disorder – and there are just 15 others in the world

By Staff 6 Min Read

Connor Murphy was unofficially diagnosed with HIVEP-2 when he was just two after his parents approached doctors with concerns that he was failing to hit developmental milestones

A three-year-old boy with an extremely rare genetic disorder is thought to be the only sufferer in the UK – and one of only 16 in the world.

Connor Murphy, from Darlington, was unofficially diagnosed with the condition, known as HIVEP-2, when he was just two after his parents approached doctors with concerns that he was failing to hit certain developmental milestones, as reported by ChronicleLive.

Following a barrage of tests, little Connor was found to have a ‘Genetic Alteration Variant of Uncertain Significance’, HIVEP 2, which is a genetic mutation associated with intellectual and developmental disability. However, this specific mutation is so rare that doctors were unable to officially diagnose him with a specific condition because so little it currently known about it. Connor is the only person in the UK known to have the genetic disorder, and one of just 16 known to the NHS in the entire world.

Connor’s dad Ben Murphy, 33, a military policeman said: “Connor can’t walk unaided, he has muscle weakness and a lack of dexterity and is non-verbal. However he can communicate to a degree through Makaton, and often gets frustrated when his hands can’t keep up with his thoughts! He enjoys, books, animals and watching any form of motorsports.

“The military have been very good to us and moved us to a bungalow so his bedroom is on the same floor and he can get out into the garden easily in his wheelchair. We’re raising money to help make life easier for him at home with alterations such as wheelchair ramps, hoists and adapted furniture and to give him the best chance of developing to his full potential.

“As there are so few children with this condition, it is difficult to know exactly what his future will be, but there are children older than him who have learnt to walk aged about nine or ten. So we are hopeful that with the right therapy, he can do the same. He loves hydrotherapy but only gets three sessions a year on the NHS, so we are hoping to get some more privately, and are also looking at equine therapy which could help with core strength, balance and confidence.”

Connor’s mum Becki is now planning to run a marathon in Manchester at the end of May along with several friends and family members in order to raise funds for charity, Tree of Hope, which provides families like Connor’s with the means to fundraise for treatment and care needs not available through the NHS.

Tree of Hope CEO Becky Andrew said: “We’re really pleased to hear that Connor’s family has so much support in their community and we hope everyone enjoys the run and day in Manchester! Tree of Hope are here to support however we can.”

To donate to Connor’s fund, visit here.

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