Actelion Pharmaceuticals LTD produced a short video on two families and how Niemann-Pick Type C Disease has impacted their lives. Hollie Carter and Annie Pyne are featured in this video. They both are youngsters living with this disease. At first sight we all instantly start to evaluate what someone with Niemann-Pick Type C looks like or any other debilitating disease. The important feature to note is this disease can strike at any time. Some look completely “OK” and others you can tell something just isn’t right by their actions. Either way this horrible disease claims their life in it’s unrelenting attack on the nervous system.
You possibly can recall someone you knew that suffered from Alzheimer’s disease. Currently 5.3 million Americans are living with this progressive and fatal brain disease with no cure (www.Alz.org). Alzheimer’s is progressively devastating in how it destroys brain cells, causes loss of memory (progressive dementia), and problems with intellectual functions that affect many of the things you and I take for granted. Alzheimer’s is the seventh leading cause of death in the United States (www.Alz.org).
In comparison to Niemann-Pick Type C Disease (NPC), it has maybe less than a 100 people currently living in the U nited States. Many sources state that 500 cases have been diagnosed ever worldwide. That’s not exactly as common of disease as Alzheimer’s. NPC is described as a genetic degenerative neurological disorder that mostly strikes during childhood that stores fatty lipids in the brain, liver, spleen, and bone marrow because of the cells inability to metabolize cholesterol. Although uncommon, adult onset can take place with NPC. Outcome is also fatal with no cure. Continue Reading
How many times have you been looking for something at your house but you accidentally find something you previously were missing? Wouldn’t it be a shame if the prize you were seeking was within reach but you discounted that it could be that easy? What if understanding Niemann-Pick Type C disease opened up the door to help millions of Americans with other disorders involving cholesterol? Of course nothing in life is easy nor will it always be within reach. With being human comes the tendency to make oversights. Continue Reading
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Authors: James E Wraith, Jackie Imrie
Published Date November 2009
James E Wraith, Jackie Imrie
Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK
Abstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain.
*This post does not reflect the views and opinions of Niemann-Pick Children’s Fund, Inc. This article is for informational purposes only. The sole credit of this article belongs to the author/website listed above.
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