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Only last month Nicola Smith learnt that her son Callum, 6, was suffering from the incurable disorder that will probably kill him within two years. She was told that he had inherited the disease through a recessive gene that she had been carrying all her life without knowing it.
Yesterday her worst fears were realised when doctors confirmed that her two other sons, Connor, 8, and Jack, 5, also have the condition. Mrs Smith, 26, said that she and her husband were struggling to come to terms with the news.
“People can try to tell us to be positive, but we can’t believe this is happening,” she said. “This is the worst possible scenario. We always knew there was a chance that Connor and Jack would have it, but we prayed and hoped that they would escape it. It’s very hard to be strong when we already have one very sick boy then find out that our other two are facing the same illness.”
Mrs Smith, from Leicester, was only recently told by doctors that she carried a recessive gene for the disease, known as adrenoleukodystrophy (ALD).
The disease, which featured in the film Lorenzo’s Oil, with Nick Nolte and Susan Sarandon, affects only boys and is found in its most aggressive form in children aged between 6 and 10. It attacks the brain tissue and central nervous system and leads to a variety of symptoms, usually starting with an inability to concentrate on simple tasks. Other symptoms include abnormal behaviour, poor memory, loss of sight, deafness and problems with speech and swallowing. Most victims die within two years of the condition being diagnosed.
Possible treatments include bone marrow transplants and a dietary fat known as Lorenzo’s Oil, named after Lorenzo Odone, whose parents’ desperate search for a cure was the subject of the 1992 Hollywood film. It can help to stave off the disease, but only if boys take it before symptoms appear.
The oil helps by breaking down an unusual build-up of fatty acids that damage the protective sheaf, known as myelin, that surrounds the nerves and stops electrical impulses from travelling from one part of the body to another. In normal bodies the acids are broken down as a matter of course.
The disease is caused by a genetic abnormality involving the X chromosome and is carried by about one in 14,000 women. Doctors say that Callum is already starting to exhibit signs of brain damage, while his brothers, who have not yet shown any symptoms, will have to undergo further brain scans to establish how far the disease has advanced.
Callum’s condition is viewed as too serious to treat, though doctors hope that they will be able to slow its progress in Jack and Connor.
“We are seeing the signs in Callum already,” Mrs Smith said. “He has problems with his sight. It is horrible to watch, and to think that his brothers will suffer as well is unbearable. To look at them, you wouldn’t think there was anything wrong.”
Jayaprakash Gosalakkal, a consultant paediatrician treating the children at Leicester Royal Infirmary, said that experts were taking “an optimistic but realistic approach”. He said that Callum was already starting to have problems walking and there was a possibility that he could eventually go blind.
He added: “So far Connor and Jack have no symptoms, but they could begin to show in the next few months or years.”
Relatives, friends and other well-wishers have raised enough money to send the family to Disney World in Florida next month for what may be their last holiday together.
Mrs Smith said: “We need this quality time together so much, and we want to thank everyone who has come forward to offer support.”
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