Little girl with 'Swiss cheese' skull given new hope after amazing brain operation
A LITTLE girl who underwent a complicated operation after being born with a skull like Swiss cheese is to appear in a television documentary.
Sofia Timmins had to be referred to specialists in Oxford when diagnosed with Crouzon syndrome – a genetic disorder which affects one in 25,000 people.
The condition has caused bones in the one-year-old's skull to fuse too early, interfering with its growth and leaving it with scores of holes. When she was 16 months old, Sofia had to spend hours in surgery to remove and reshape part of her skull – before fixing it back with wires – to allow space for new bone to form.
At the time, mum Rachael Thompson, 39, of Darley Dale, agreed for the procedure to be filmed at the John Radcliffe Hospital. And it will be shown later this month on BBC programme Brain Doctors.
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Rachael, of Dale Road South, said: "Sofia was diagnosed with the syndrome not long after she was born and, when the scans found her head was full of holes, it was decided she needed to have this operation.
"We had to wait for it at first because, the experts said, given the condition of her skull, there was nothing much to work with.
"But, when her brain started to grow through the skull, it was decided it couldn't be left any longer and she had the operation last July."
She said: "I agreed to the BBC filming it because I felt it was all good publicity and awareness for her condition and the work of the hospital.
"You mention Crouzon syndrome to people and they just look at you blankly – they don't realise the effect one genetic misprint can have on someone's life."
Rachael said she often had to take Sofia to the Oxford hospital for check-ups or emergencies – especially as the youngster had a shunt fitted to drain excess fluid around the brain. She said: "I have to observe her all the time because even symptoms of a cold could mean her shunt is not working properly and one knock on the head could be quite drastic or detrimental."
Rachael added it was likely her daughter would need more surgery in the future but the prognosis was unclear at this stage. She said: "It really is a case of wait-and-see with her because it is not a predictable condition. It is one of those syndromes which you just have to adapt to as it develops but Sofia is just used to all of that – it's part of who she is and she's just a really happy girl."
The episode of Brain Doctors is expected to be shown on BBC Two on February 20 at 9pm.
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