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County Durham boy, three, has genetic condition so rare he’s only person in country to have it

A three-year-old boy has a genetic condition so rare he is the only person in the country to have it – and only one of only 16 children in the world diagnosed with the condition.

Connor Murphy, from Darlington, was identified with the rare genetic disease HIVEP-2 at the age of two after it became clear he wasn’t hitting his developmental milestones.

Following a series of tests, a ‘Genetic Alteration Variant of Uncertain Significance’ identifying HIVEP 2 was found, which means the doctors can’t officially diagnose his condition because there just isn’t enough known about it right now. There are currently only 16 children in the world recognised by the NHS to have this alteration – only one in the UK.

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.”

Now Ben and Conor’s mum, Becki, 30, a scientist and several of their family and friends will be running the Manchester 10K on May 26 to help raise funds.

Connor’s family is being supported by children’s charity Tree of Hope which helps families fundraise for children and teenagers like Connor with healthcare needs which cannot be provided by the NHS and provides charity status to benefit from gift aid, corporate support while also providing donor reassurance.

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 https://www.treeofhope.org.uk/ways-to-give/childrens-campaigns/connors-charity-support/

View news Source: https://www.chroniclelive.co.uk/news/north-east-news/county-durham-boy-three-genetic-29086527

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