|
Niemann-pick, What is it?
There are three forms of Niemann-Pick Disease:
-
Type A, B and C. Each affects the way the body breaks down fat and are caused by genetic mutations passed down from the child’s parents, who must both be carriers of the defective gene but may have no symptoms themselves.
-
Type A rapidly affects the brain and usually causes death before the age of three.
-
Type B affects the liver, spleen and respiratory system and sufferers can survive into adolescence or adulthood.
-
Type C , which Ben has, is the most common. Because of a faulty gene, the body doesn’t produce the enzyme needed to break down cholesterol.
The build-up in the organs, including the brain, liver and spleen, causes a massive deterioration, leading to mental and physical problems (unlike adult dementia sufferers, whose problems are largely mental). The earlier the onset of symptoms the earlier the battle is lost. Sadly Ben is unlikley to live past early teens.
|