A BABY is battling a genetic condition so rare that only 25 people in the world are thought to suffer from it.
Ailsa Scobie suffers from a syndrome so unusual that she is the only case of its kind in the UK and has spent half of her young life in the Sick Kids Hospital.
The eight-month-old was born with an extra chromosome in her genetic structure. She struggles to feed and suffers from growth and heart problems.
Experts say Ailsa’s condition is so rare she is “writing her own medical history”.
Her parents Katrina, 34, and Sam, 49, said coming to terms with their daughter’s condition was the “hardest thing [they] have ever done”.
But friends and neighbours are rallying round the family and have put on a money-spinning concert this weekend to raise funds for Unique – a support charity that brings together families for children with similar disorders.
Speaking to the News, Katrina said: “I noticed something was not quite right with Ailsa the moment she was handed to me. Her ears were quite low down but [the nurses] said it would be all right. It was two weeks later when they started saying there was something wrong with her and she was two months old before it was diagnosed.”
Ailsa suffers from a condition called Chromosome22q13.1 Duplication Syndrome which often leads to learning difficulties and was brought to light when she was diagnosed with having two holes in her heart.
“It was extremely hard to take,” said her mum Katrina, “especially in the beginning because we didn’t now anything about the charity Unique.
“It’s so incredibly rare, it’s difficult not to know what we’re facing. In the beginning we were completely on our own and no-one understood how we felt. But to find out there are people in a similar situation can be comforting because you know it’s not just you.”
With no other sufferers in the UK the Scobies spoke to two families, including one in Australia, who had been through the same ordeal. “Just knowing there was someone else there reassured us,” she said. “We thought this is something other kids have gone through, So there’s a wee bit of hope for the future. It’s been tough but it’s made us a stronger family.”
Despite her condition, Ailsa is a “happy wee person”, Katrina said.
Beverly Searle, CEO of Unique, said: “It’s difficult for medics because it’s so rare you have nothing to go on.
“The child is writing their own medical history. She is giving information for someone who might have the condition in the future.”
The fundraising gig for Unique will take place at 6pm on Saturday night in the Space, North Berwick. Tickets cost £5 (£3 concessions) and are available on the door.