‘Lovely’ little toddler Reuben Moore, from Boston, may well be the only person in the world who has his rare genetic condition.
The fifteen-month-old has ‘7q22q32 duplication’, which means there is an extra copy of part of one of the chromosomes which carry the body’s genetic information.
So little is known about the disorder that it is difficult for Reuben’s family to know how it is affecting his development.
He does, however, have poor eyesight, poor muscle tone, which affects his breathing and means he is unable to sit up, a cleft palate, and also has to take antibiotics to manage issues with his kidneys.
Because his condition is so rare his family face the additional challenge of being completely in the dark as to how it might affect him in the future.
Mum Mel, 36, said: “Because there are so few people, I don’t know if he’s likely to live to adulthood. That’s quite hard.”
She added: “I try to look at the positives of it really. I try to think what a joy he is and what a lovely little boy he is. I want to make sure however long he has - I hope it’s a long time - it’s a happy life.”
Reuben’s family have spoken to The Standard in support of Rare Chromosome Disorder Awareness Week, but also to praise Boston’s Pilgrim Hospital for helping to identify his condition so quickly and their continued support today.
Mel said: “It’s down to Pilgrim Hospital that this was picked up when it was, quite early on. In my eyes they have saved his life.”
Prisca Middlemiss, officer for Unique, the rare chromosome disorder charity, said: “We have one other match on our database for Reuben’s general diagnosis of a duplication of chromosome 7q22q32 but if you take his more detailed micro-array test results it likely to be completely unique.”