Foundation Newsline/Updates

2010 Family Support & Medical Conference - Toronto!

The Canadian Chapter of the National Niemann-Pick Disease Foundation was founded in April 2005.

The primary goals of the foundation are:

• To promote medical research into the cause of Niemann-Pick Disease and to find a cure
• To provide medical and educational information to assist in the correct diagnosis and referral of children with Niemann-Pick Disease
• To provide support to families of Niemann-Pick Disease patients
• To encourage the sharing of research information among researchers

We are delighted that you wish to learn more about this disease and certainly our Web site can assist you in your quest. Our Newsline, Media and Research pages describe information pertaining to all things new and exciting. In the People page you will get a chance to meet some of the directors. Feel free to send us an email as we enjoy getting feedback from our visitors. In the Events section you'll find photos from our fundraising events. Finally, our Links and Information & Support pages will provide you with information about and links to other related websites. For volunteer and donation information please refer to the Help Out page.

Please click here to read an introductory letter from Tammy Vaughan, Chair of the Canadian Chapter of the National Niemann- Pick Disease Foundation.

CCNNPDF
c/o Tammy Vaughan, Chair
RR #1; 443053 McCormick Side Rd.
Durham, Ontario
N0G 1R0

Niemann-Pick Disease (NPD) constitutes a group of genetic diseases. The three most commonly recognized forms are: Type A, Type B and Type C. Types A and B result from the deficiency of a certain enzyme (sphingomyelinase), which is necessary to break down a special lipid (sphingomyelin).

Despite having sufficient levels of this enzyme, Type C patients are unable to breakdown this lipid, resulting in the abnormal accumulation of this lipid and a build-up of cholesterol in the body's cells.

All of these forms of Niemann-Pick Disease show evidence of fatty deposits in one or more organs of the body - in particular, the liver, the spleen and the brain.

NPD progresses with symptoms of increasing clumsiness, lack of coordination, seizures, and a gradual failure of physical and mental functions. Most children with Type C do note live past the age of 15 years. The parents of children with Niemann-Pick are carriers and they have a 1 in 4 probability with each pregnancy of having an affected child.

For more details about Niemann-Pick Disease (NPD) please click here to go to our

About Niemann-Pick Disease page.