Family's plea for US treatment

(l to r) Georgie Shown, with Bobbie and Mark with Danni

A family is battling to raise money so their two children can receive treatment in the US for a fatal genetic disease.

Mark and Georgie Shown from Worksop, Nottinghamshire hope American researchers can halt, and perhaps even cure Batten's disease which daughters Bobbie, six, and Danni, four, both have.

So far, the family have raised almost £200,000 towards the cost of taking part in the trial. Even though it only offers them faint hope, they are determined to take the chance it offers them.

Batten's disease occurs in about one in 30,000 births. Both parents have to pass on the defective gene for their child to develop it.

All I want to do is get my children better

Georgie Shown

Batten's leads to a progressive deterioration of the brain and nervous system, causing blindness, deafness and loss of muscle control. It is usually fatal by the age of 12.

The disease hit the headlines because of Rhys Daniels and his sister Charlie.

Rhys, who was the first child in the UK to receive a bone marrow transplant, died in 1998, shortly before his 10-year-old sister.

Healthy life

US researchers are hoping to use gene therapy to combat Batten's.

The family hope the US research will halt the progression of the disease

The Shown family hope to reserve a place on the trial, due to start next August, which will look at replacing the gene which causes the disease.

Dr Ronald Crystal of Cornell University, New York, who will work on the research, said: "Assuming that was possible, assuming that was safe, assuming that we could deliver the gene and get it working for a long period of time, then that would essentially be stopping the disease's progression, and presumably these children would be able to live a healthy life if we got to them early enough."

Mark Shown told the BBC: "We hoping that by getting on the trial, and getting our daughters to America, we'll actually halt the progression of Batten's disease.

"And then in the future, with gene therapy, possibly come up with a cure for it completely."

$100,000 each month to keep the research going.

Aware

Georgie Shown said: "You force yourself to get out of bed in the morning because you know you've got such a bad day ahead of you."

Just a few weeks ago, Danni could walk about, but she now has difficulty standing on her own. Neither she or Bobbie can feed themselves.

Georgie Shown says every day is hard

Georgie added: "It's just so hard to explain that you've got two children aged six and four, who should be running about and having a happy life, and basically they're just sat there and they can't do anything.

"They are aware. Bobbie laughs, and when she's watching the TV, she laughs.

"Danni can still say the odd little word, not an awful lot. But they do still smile, and you talk to them, they smile."

She added: "They obviously have got an understanding, but you don't know what's going on in their heads, whether they understand that they can't move about and can't run like other children, and that's what distressing."

"I'm just wishing the months away. All I want to do is get my children better."