Laura
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| Introduction | ABOUT NIEMANN-PICK DISEASE Niemann-Pick Disease affects metabolism and is caused by genetic mutations. In order for a child to have the Disease, both parents must be carriers of a genetic mutation causing it. There are three types of Niemann-Pick Disease, Types A, B and C. We believe Amber has Type A, the most severe of the three types. She lacks an enzyme called acid sphingomyelinase. Since she doesn’t have this enzyme, her body can’t get rid of sphingomyelin. Sphingomyelin has nowhere to go so it accumulates in her cells, eventually causing cell death and the malfunction of major organ systems - predominantly liver, spleen & lungs. Those with Type A typically live to be only 2 to 4 years of age & usually don't progress beyond 12 months developmental age. There are approximately 1,200 cases of type A and B Niemann-Pick Disease worldwide with the majority being Type B. There is currently no treatment or cure for the disease. |
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