Dementia is something that is usually associated with older people. However, children, teenagers and young
adults can experience dementia as a result of a number of rare diseases and conditions. Niemann-Pick Disease
Type C (NPC) is an example of one of these diseases, and one of its main symptoms is dementia. (Hinton et al, 2005)
Below is a story that ran in today’s Wall Street Journal (Page A 3) on the FDA workshop I attended a few week ago at the Keck Graduate Institute in Claremont, CA. We filed an orphan drug application for Cyclodextrin for the treatment of Niemann Pick Type C disease, an ultra rare cholesterol disease that [...] […]
Actelion, the makers of Zavesca, today put out a brief statement saying that the U.S. Food and Drug Administration did not approve Zavesca and wants more information from the company on treating Niemann Pick Type C, a rare and dementing neurological disease that afflicts our six year old identical twins, Addi and Cassi. Niemann Pick Type C disease is caused […]
The Scientist Magazine By Alison McCook 30th June 2009 Researchers are slowly establishing a connection between an extremely rare genetic disease and HIV — and homing in on a safe, non-prescription compound that could treat both. Recently, James Hildreth at the Meharry Medical College School of Medicine in Nashville, Tenn., and his colleagues found tha […]
Wacker Chemie, the Munich-based chemical company, announced that is has expanded its US based cyclodextrin facility in Eddyville, Iowa. According the the press release issued by Wacker, the new cyclodextrin facility increases the company’s capacity for alpha (α) and beta (β) cyclodextrins by 50 percent and doubles its capacity for gamma (γ) cyclodextr […]
KC Metro Family Tries to Cope With 'Childhood Alzheimers'
—Click on the picture to go to the full story……
Video: (I will have to update this link. They have redirected the video)
If you tell someone that your child suffers from “Niemann Pick Disease Type C,” most people would have no idea what you’re talking about.
But if you tell them that your child suffers from “Childhood Alzheimers,” those people would begin to understand the seriousness of your child’s condition.
Niemann Pick disease is a rare and fatal disease that robs a child of both their past and their future, and for one metro family the condition is a double tragedy.
As a society we are somewhat familiar with common diseases such as Cystic Fibrosis, Multiple Scleroses, and Muscular Dystrophy.However, a name like, “Niemann-Pick Type C disease” leaves you wondering.
This genetic, neurodegenerative disorder strikes children through accumulation of cholesterol and other excess fats in the cells of the liver, spleen and brain. When brain cell function is blocked NP-C children lose coordination, stumble, fall and eventually need to be in wheelchairs, sleep in a hospital bed and utilize other adaptive equipment. As the disease worsens other devastating symptoms develop including loss of the ability to speak, swallow, laugh, remember, and often seizures occur. The health of children with NPC deteriorates until ultimately, the disease claims the child’s life. It is estimated that the diagnosis of this disease affects approximately 500 people worldwide (NPC).
NPC has been initially diagnosed as a learning disability, mild retardation, “clumsiness,” and delayed development of fine motor skills. It is not uncommon for a family to spend several years seeking a diagnosis before NPC is identified.
NPC is always fatal. The vast majority of children die before age 20 (and many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person with NPC to reach age 40.
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