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A Mother Passes On A Rare, Terminal Brain Disease To Her Three Children

by Medindia Content Team on May 24, 2006 at 2:21 PM
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A Mother Passes On A Rare, Terminal Brain Disease To Her Three Children

Scott and Nicola Smith of Leicester parents of six-year-old Callum Smith were told their son was suffering from the incurable disorder Adrenoleukodystrophy (ALD) a month ago. The news they were dreading to hear came true yesterday with reports indicating that her other two sons, eight year old Connor, and five year old Jack too have the disease.

People who suffer from this rare condition are nearly always male who lose sight, hearing, and the ability to walk or talk and most die before adulthood. Mrs. Smith was told that the boys inherited the disease through a recessive gene that she had been carrying all her life without knowing it.

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Shocked and anguished Mrs. Smith has said: 'we can't believe this is happening. We always knew there was a chance Connor and Jack would have it but we prayed and hoped they would escape it'. She explained that this was the worst possible scene, and that no amount of reassurance from people could help, as she said: 'when we already have one very sick boy and then find out our other two are facing the same illness, it's hard to be strong.'

The ALD attacks the brain and central nervous system. It is estimated that between one in every 20,000 and one in every 42,000 people, mostly male, are diagnosed with varying degrees of the disease. Experts say that it is almost unheard of to have three patients in one family.
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Mrs. Smith said that right now all three boys appear normal but she and her husband Scott, have started seeing the signs of brain damage in Callum and that it was horrible to watch him suffer.

Dr Jayaprakash Gosalakkal, the consultant pediatric neurologist treating the brothers at Leicester Royal Infirmary, said: that they are exploring the possibility of bone marrow transplants and also the possibility of stem cell treatment. But he cautioned that the investigation is still in its very early stages.

It is reported that patients suffering from this condition usually die within two years of being diagnosed. Doctors report that Callum's condition is as such too serious to treat but they hope to be able to slow the progress in Jack and Connor using a variety of treatments. Treatments could include bone marrow transplants and a dietary fat known as Lorenzo's Oil that was made famous by the Hollywood movie starring Nick Nolte and Susan Sarandon. The film told the true story of Augusto Odone who created the oil to stop the progression of ALD in his son.

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