'Writing her own medical history': The baby who has a genetic condition so rare only 25 people in the world suffer from it
Ailsa Scobie, born in January, suffers from a genetic condition that causes learning difficulties and sometimes heart defectsThe chances of being born with the condition – called Chromosome22q13.1 Duplication Syndrome – are one in 280million
16:28 GMT, 13 September 2012
A British baby is battling a genetic condition so rare it is thought only 25 people in the world suffer from it.
Ailsa Scobie, born in January, suffers from a disorder that makes her one in 280million.
The syndrome has meant the girl, from Athelstaneford, East Lothian, has already spent half of her young life in the Royal Hospital For Sick Children in Edinburgh.
Ailsa has an extra chromosome in her genetic structure, and is the only child in the UK to suffer from the condition.
Fighter: Eight-month-old Aisla Scobie was born with a genetic condition – called Chromosome22q13.1 Duplication Syndrome – so rare that odds of having it are one in 280million. She is pictured with her mother Katrina, father Sam and sister Bethan
Doctors say her condition is so rare she is 'writing her own medical history'.
She struggles to feed and needs help from a tube, and suffers from growth problems and heart defects.
Her parents Katrina, 34, and Sam, 49, have a difficult time caring for her while also bringing up Ailsa's sister Bethan, 11.
But friends and neighbours are rallying
round the family and are putting on a concert this weekend to raise
money for a charity which supports the family.
Unique: Ailsa has an extra chromosome in her genetic structure, and is the only child in the UK to suffer from the condition
Mrs Scobie said: 'Two weeks after she was born we first found out there was a problem. Her heart wasn't strong enough to let her feed.
'She's been in hospital for three or four months, half of her life.'
The mother-of-two said her first reaction on being told about the condition, which means Ailsa will probably have learning difficulties in the future, was 'disbelief'.
She said: '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.'
Children born with the condition – called Chromosome22q13.1 Duplication Syndrome – often suffer from learning difficulties and sometimes from heart defects.
Ailsa's condition came to light after she was taken to hospital and doctors spotted two holes in her heart.
The Scobies have been supported by chromosome disorder charity Unique, which puts families who have children with similar conditions in touch with each other.
With no other sufferers in the UK they spoke to two families, one as far flung as Australia, who had been through the same ordeal.
Mrs Scobie, who used to run a confectionery shop, said: 'Then we found out about this support group and they managed to put us in touch with a family who had a child with a condition that was very similar.
'To find out we weren't on our own was an amazing thing. Your friends are there for you but they can't understand how it feels. Other families with rare chromosome problems all rally together.'
The family learned how the other families had coped with feeding tubes and the motor problems associated with the condition.
One in 280million: Ailsa struggles to feed and needs help from a tube, and suffers from growth problems and heart defects
Mrs Scobie said: 'Just knowing there was someone else there reassured us. 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 to get through but it's made us a stronger family.'
Despite her condition, Ailsa is a 'happy wee person', her mother 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. Though it gives information for someone who might have the condition in the future.'
* The fundraising concert for Unique takes place at 6pm on Saturday night in theSPACE, North Berwick. For more information on chromosome conditions see Unique's website rarechromo.org.