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Plight of Aadam and His Rare Genetic Disorder, Niemann-Pick, Type B

by Savitha C Muppala on September 25, 2013 at 11:14 PM
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 Plight of Aadam and His Rare Genetic Disorder, Niemann-Pick, Type B

Eight year-old Aadam Asif's family were worried about their boy's swollen tummy only to find much later that he suffered from a rare genetic disorder, called Niemann-Pick, Type B. This condition is presently incurable.

He was diagnosed at Birmingham Children's Hospital after several blood tests and X-ray. This has caused Aadam to suffer difficulties in feeding. He also experiences liver failure, jaundice, loss of motor skills, difficulty eating and slurred speech.

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Though the family had noticed some symptoms when the boy was three years old, their visits to the GP could not lead to a proper diagnosis. The child's father was determined to know what was wrong with the child.

"When you are told that devastating news it doesn't hit you straight away. It is such a shock. Aadam was seven years old by the time of his diagnosis and by then it was more noticeable that there was something wrong with him. There is no treatment and no cure - you just have to manage the condition and look after him," Aadam's father said.

They are hoping to raise awareness about this condition as a way to help Aadam as well many other people world over in the throes of rare genetic diseases.



Source: Medindia
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