Three Siblings affected with rare genetic disease

A British couple have spoken of their heartbreak at having had three young sons diagnosed with the same rare terminal genetic condition. Scott and Nicola Smith, from Eyres Monsell, Leicester, have spoken to the press about discovering their sons' incurable brain disorder. Eight-year old Connor, six-year old Callum, and five-year old Jack all have a condition called adrenoleukodystrophy (ALD), sometimes also called Schilder's Disease. The condition, which affects one in every 20,000 boys, attacks the brain and central nervous system, and most of those affected will die before they reach adulthood. Sufferers are unable to produce an enzyme that breaks down saturated, fatty acids in the brain, causing these to accumulate. Eventually, sufferers lose their sight, hearing and the ability to walk or talk. Current treatments include bone marrow transplants and a dietary fat known as Lorenzo's Oil, also the name of a feature film about a boy suffering from ALD. The film tells the real-life story of Augusto Odone, who developed the oil as a treatment for his son, Lorenzo.
Mrs Smith recently found out that she was a carrier for ALD. The disease is caused by a genetic abnormality involving the X chromosome and is carried by about one in 14,000 women. But by then, she said that she and her husband Scott had already started to see the signs in Callum. Callum was the first to be diagnosed, only last month and, following tests on the other boys, it was discovered that they both were also affected. 'We can't believe this is happening', said Mrs Smith, adding 'it's a nightmare'. She went on to say that 'we always knew there was a chance Connor and Jack would have it, but we prayed and hoped they would escape it'. At present, all three boys appear normal, but doctors say Callum is already showing signs of brain damage.
Dr Jayaprakash Gosalakkal, the consultant paediatric neurologist treating the brothers at Leicester Royal Infirmary, said that it is almost unheard of to have three sufferers of ALD in one family. The only other case where the disease affected more than two boys in the same family was in China where four siblings were diagnosed with the condition, he said. He added that doctors 'are exploring the possibility of bone marrow transplants and also the possibility of stem cell treatment. The investigation is still in its very early stages'. 'I really didn't know how to break it to the mother', he said, adding 'I saw their reaction when I told them about the first son, Callum. Telling them was one of the most awful things I have ever had to do'.