Life Marred by Cruel Disorder

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Thursday, March 7, 2013

A tennis tournament this summer will raise money for a little girl who may never be able to pick up a racquet.

The event, at Canterbury Lawn Tennis Club in August, is one of a host of events planned by the family of six-year-old Hannah Johnsson, who suffers from a rare genetic disorder.

A concert at St Mary Bredin Church in May and a quiz night are also being organised as scientists continue to seek a cure for Rett syndrome, which hit the headlines when footballer Wayne Rooney's sister-in-law Rosie, 14, died after a life-long battle with the disease.

The neurological condition is caused by a faulty gene and affects 1 in 12,000 girls.

Hannah was diagnosed when she was three after she suddenly started to lose all the skills she had learnt. Her speech stopped progressing, her mobility declined and her hands started shaking.

She shouted for no reason and pulled her hair out in clumps, to the point that it had to be shaved off.

Hannah's mum Beth, 35, said: "Hannah was a perfect baby. She was utterly normal, advanced even, and her speech and motor skills were fine. Then at 18 months, her progress slowed down.

"We thought she was just delayed. She was only tested for Retts to rule it out, so no one was expecting it to come back positive. At the time, we had no concept of how bad it was."

Her doting grandmother Gill Prett, 64, of Cromwell Road, Canterbury, said: "It was absolutely devastating. It is the most cruel condition. Even small signs of progress can't be celebrated, because in a week's time, she won't be able to do it anymore."

Often, Rett Syndrome sufferers are initially described by doctors as late bloomers.

Many are not diagnosed until the age of six or seven, after the possibility of other conditions including epilepsy, Parkinson's and autism, has been explored.

Hannah's diagnosis came as a result of genetic testing at the age of three, more than a year after her family first suspected something was wrong.

Three years later, Hannah remains 18 months old developmentally. Her little brothers Matthew, two, and one-year-old Noah, will soon start to overtake her.

Beth, a secondary school English teacher, said: "Since she was diagnosed, things have regressed. The words have all gone. She does repetitive hand movements, and has started to shake. She hasn't had a seizure yet, but they are common."

Despite the all-consuming effects of Hannah's disease, she looks like a perfectly healthy little girl from the outside.

So when she shouts – which is one of her only ways of communicating – she attracts looks and hurtful comments from passers-by.

After she was reduced to tears in the high street by the reactions of an ignorant few, Beth decided to hand out cards explaining her daughter's condition.

She explained: "It's seen as a learning disability, but it's actually a physical and a neurological disability. It is debilitating in every aspect of her life."

But the fact that Rett syndrome is not a learning disability is perhaps one of the crueller aspects of the disease.

Beth said: "It is like locked-in syndrome. Hannah is aware of what she can't do and what she wants to do, which is massively frustrating for her.

"She understands an awful lot more than she can show."

But there is hope for Hannah, after scientists found the genetic mutation that causes Rett syndrome, and managed to reverse its effects in mice.

Last year, experts also found that bone marrow transplants could halt symptoms, and clinical trials started on girls in the US.

The family remains hopeful that a cure will be found in Hannah's lifetime.

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Lowri Stafford
01892 239100

Source: Canterbury Times

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