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Batten disease

Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling.Other symptoms or signs include slowing head growth in the infantile form, poor circulation in lower extremities with legs and feet, decreased body fat and muscle mass, curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding, and constipation. more...

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Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.

Batten disease is named after the British pediatrician F. E. Batten who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL, some physicians use the term Batten disease to describe all forms of NCL.

The disease is inherited in an autosomal recessive manner. The mutation causes the buildup of lipofuscins in the body's tissues. These substances consist of fats and proteins and form certain distinctive deposits that cause the symptoms and can be seen under an electron microscope. The diagnosis of Batten disease is based on the presence of these deposits in skin samples as well as other criteria. Six genes have now been identified that cause differenty types of Batten disease in children or adults. There are more that have yet to be identified. Two of these genes encode enzymes. The function of most of these geens is still unknown. The identification of these genes opens up the possibility of gene replacement therapy or other gene-related treatments.

In October 2005, the FDA approved the transplantation of fetal neuronal cells into the brains of children suffering from Infantile and Late Infantile versions of Batten disease. The cells, which are immature and in an early stage of development, are derived from aborted and miscarried fetuses and will be injected into the patient's brains. To avoid rejection of these foreign cells, the immune system of the patients has to be suppressed.


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Only 500 children in the world suffer from a disease that will kill
From Evening Standard (London), 4/21/05 by PATRICK SAWER

TINA and Mark Harris have to live with the unbearable knowledge that both their children will die before the age of nine.

Jordan, six, and Jasmine, three, suffer from Batten's disease, an incurable genetic disorder that affects only 500 children across the world.

"We often ask 'why should both our children suffer this?'," says Mrs Harris.

"It would have been bad enough for just one, but to have both like this is terrible. They are such lovely children. What have they done to anyone?"

Mrs Harris knows there are no answers to these questions, so most days she and her husband just do, in their words, "what needs to be done". And, as if providing round-theclock care is not enough, the couple have thrown themselves into fundraising for research into a cure for Batten's disease, holding on to the slim hope that medical science may one day provide an answer.

The Harris family are not the first to face just this situation. Six years ago siblings Rhys and Charly Daniels died after they were diagnosed with Batten's. Rhys was just short of his eighth birthday when he died after having two bone marrow transplants in an attempt to cure him.

His case came to national attention when his parents went to the High Court over the closure of the hospital where he was being treated. His sister Charly's condition was detected too late for surgery to be attempted. She died aged nine, just a few months after Rhys.

Mrs Harris, of Shooter's Hill, recalls: "In March 2001 Jordan had his first seizure.

Until then he'd been a normal child."

In spring 2002 he began falling over with frightening regularity. An MRI scan showed his brain had shrunk significantly.

Over the next few months he lost his power of speech, was unable to walk and needed help feeding. Finally he was diagnosed with late infantile Batten's disease, in which defective genes gradually force brain cells to shut down.

Doctors warned Mr and Mrs Harris - who met on holiday in Greece - that there was a 25 per cent chance Jasmine would inherit the disease. Mrs Harris, 42, said: "We thought life would not be so cruel.

But in December 2003 we were told she also had the faulty gene." Mr Harris, 44, a maintenance engineer, said: "It's just unbearable to look at the children and think that Jasmine is going to end up like Jordan."

The only prospect of a cure is offered by pioneering research at Cornell University in New York. The couple, whose case has been highlighted on Five News, have set up a charity named after Jordan. They have raised Pounds 160,000 towards the research. "It gives us something to focus on," said Mrs Harris.

"It's really heart-warming that so many people out there want to help. It gives us the strength to carry on." In the meantime, they try to follow the advice of one doctor who told them to enjoy their children to the full while they could. "Both kids are full of life and very happy," said Mrs Harris.

"You don't cope. You don't have a normal life. You do what you have to do for your children."

. Jordan and Jasmine's charity can reached at


Batten's disease is named after the British paediatrician F E Batten, who first described the condition in 1903.

It is an inherited metabolic illness which is so rare it affects only 500 children worldwide.

The disease is triggered when both parents of a child carry a defective Batten's gene.

It is a degenerative condition which can lead to blindness, deafness and loss of muscle control. Eventually it is fatal.

Most sufferers die by the age of seven and are not expected to live beyond nine.

Once the illness takes hold there is no cure, although research is continuing.

(c)2005. Associated Newspapers Ltd.. Provided by ProQuest Information and Learning Company. All rights Reserved.

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