Adam Is Looking Forward Despite Incurable Disease ; 25-Year-Old Is Determined to Do the Things He Enjoys

Summary

---

Three forms of Niemann-Pick disease WHAT is Niemann-Pick disease?. There are three recognised forms of Niemann-Pick disease, Niemann-Pick Type A, B and C.. Niemann-Pick Type A and B are caused by an enzyme deficiency, causing a build up of toxic materials in the body''s cells. ? Niemann-Pick Type C is not caused by an enzyme deficiency, but the end result is the same; an accumulation of materials (cholesterol and other fatty acids) in the body's cells.

. ? In Niemann-Pick Type A this accumulation occurs very quickly, an affected child will usually die before reaching three years of age. ? Niemann-Pick Type B does not affect the brain and, although growth may be slow, those affected will survive into adolescence or early adulthood, with many being able to lead a full and normal life.

See the full content of this document

Extract

---

Adam Is Looking Forward Despite Incurable Disease ; 25-Year-Old Is Determined to Do the Things He Enjoys

. ? In Niemann-Pick Type C, the brain and other organs are affected, leading to progressive intellectual decline, loss of motor skills, seizures and dementia. Speech ...

See the full content of this document

---