Radical operation gives Amber back her smile

DOCTORS have performed a life-changing brain operation on a 10-year-old girl — giving her back her smile just in time for Christmas.

Amber Sisson suffers from a rare genetic disorder that causes contortions and involuntary movements.

The condition, known as PANK 2, or Hallervorden-Spatz disease, is progressive and crippling.

Just over two weeks ago Amber's body was in a state of permanent spasm. Her head was thrown back in a dramatic forced pose, and her face distorted, turning smiles into grimaces.

When she tried to move, her arms would flail, causing her to strike her forehead repeatedly.

She could not stand on her own, speak coherently, dress or feed herself.

But luckily Amber was suitable for a radical treatment known as Deep Brain Stimulation (DBS).

Already used to help sufferers of Parkinson's disease, it involves inserting electrodes deep into the brain. A small current delivered through wires hidden under the skin effectively jams unwanted brain signals to stop the spasms.

Three days after the operation, Amber had undergone a transformation which astonished the medical team at St Thomas's Hospital, London, and delighted her parents.

Amber now has almost full control of her face and trunk. She can sit up straight, is able to stand unaided for short periods, and has been writing Christmas cards to her friends.

Best of all, she has enough control of her arms to give her mum and dad a hug and she can smile.

Her mother, Amanda said: "Amber has always been such a happy little girl and so fun loving. She used to go to ballet school and swim, and she loves to draw and paint.

"When this happened we were absolutely heartbroken, devastated. But we just had to accept it and carry on, and be strong for her. Now she can paint pictures, sit up in bed, put her socks on, and feed herself. It's fantastic, a miracle the best Christmas present I've ever had. I don't want anything else, ever."

Miracle is not a word Dr Jean-Pierre Lin, the paediatric neurologist in charge of Amber's treatment, likes to use. But he, too, was amazed at the success of the operation.

"I think it's spectacular. It's not miraculous, because it's the result of human intervention and ingenuity, but it is very dramatic. This is a very early beginning, but a very promising start. It's more than we had hoped for," he said.

Next year Dr Lin plans to start screening other children who could benefit from DBS. Four others besides Amber have already had successful operations.

Amber, an only child, was about four when her parents noticed something wrong.

Her father, Justin, said: "She used to fall down a lot and seemed very clumsy. We took her to hospital in Nottingham and she was diagnosed with dyspraxia, a balance and co-ordination disorder. But after about two years our doctor noticed she was stiffening up. She was given an MRI scan, and it showed these shadows on her brain."

A blood test confirmed that she had PANK 2.

The motor disorder, which only affects about one or two people per million, is caused by iron being deposited in the brain. A defective gene has to be inherited from both parents for the condition to occur.

The disease is progressive and can ultimately prove fatal when vital functions such as breathing are compromised.

Amber should be returning to school next month. She is looking forward to playing with her beloved Staffordshire bull terrier, Bo, and seeing her friends.

She still has problems speaking, but is able to make herself understood at home. The doctors expect her to make rapid progress.

Lindsay Ballantyne, a senior physiotherapist looking after Amber in hospital, said: "Beforehand she didn't have any function, really. She couldn't sit up and was continuously in spasm. Now she's dressing, sitting unsupported, and is able to stand.

"To see the expression on her face is just wonderful. She's smiling all the time."