The mother of a little boy born with an extremely rare condition has had to come to terms with the fact that she will never hear him say ‘I love you mummy.’
Little Austin Kearley was born with a faulty genetic condition known as PTEN. The seven-year-old cannot talk, has extreme learning difficulties and growth problems - and has an 85 per cent chance of developing cancer when he grows up.
But mum Kelly and dad Mark from Southwater are determined to help him. They are planning to take him to America next month to take part in a pioneering drugs trial.
And although Kelly says “he will probably never speak,” she and Mark, a teacher at Thomas Bennett School in Crawley, hope that the drug therapy will help Austin to achieve more such as being able to feed and dress himself.
PTEN Harmatoma Tumour Syndrome is thought to affect between 200 and 300 people in the UK but only around 150 have been diagnosed.
Kelly says that she knew right from the start when Austin was born that something was wrong. “He was a silent baby,” she says. “Other mums were saying it was amazing but I kind of knew something was wrong when he wasn’t reaching any of the usual milestones.”
But it was not until Austin was just over two years old - and Kelly was pregnant with her second son Freddie - that the family received an official diagnosis. “I was relieved to finally have a name for it because I knew there was a problem,” said Kelly. “But it was a horrific time. You get overwhelmed when you realise what lies ahead.”
But Austin’s little brother Freddie, now four and a half, is proving to be an ‘amazing’ help. “He really cares about Austin,” said Kelly, “and is always thinking about him first.”
Freddie and Austin have developed a form of sign language and Freddie is adept at cheering and calming Austin by singing to him.
Kelly, 36, has spoken out about Austin’s condition in a bid to raise awareness of PTEN and the children’s charity Jeans for Genes which holds an annual fundraising day for Genetic Disorders UK, a national charity supporting individuals and families.
The Jeans for Genes Day is being held on September 21 and aims to raise funds to help transform the lives of chidren with genetic disorders.
Meanwhile, Kelly and Mark have launched their own fundraising campaign to help meet the costs of Austin taking part in the American drugs trial.
“To be part of the trial we will need to fly to the USA once a month for 6 - 12 months with a cost of about £1,000 per month. We are appealing to everyone out there to fundraise for our son so hopefully we can get him the help he needs,” said Kelly.