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The Facts About Niemann-Pick C

NPC is a genetically inherited, neurodegenerative disease. The disease interferes with the body’s ability to metabolize cholesterol and other lipids at the cellular level. It causes excessive buildup of cholesterol and other lipids in the cells of the spleen and the liver. It also causes  the accumulation of gangliosides, a complex type of lipid, in the brain causing neurological deterioration and eventually death. This is the same as what happens in Alzheimer's patients.  This is why NP-C is referred to as " childhood Alzheimers". 

Niemann-Pick Disease type C is panethnic.   It afflicts people from all socioeconomic classes, and has an equal chance of affecting males and females.  NPC is an autosomal
recessive inherited condition.  This means that each parent of the affected child has one functional NPC1 gene and one mutated NPC1 gene, also called a heterozygote.  The parents are carriers and have no symptoms of the disease.  Affected children have two mutated NPC1 genes, one from each parent.   There is a 25% change each time these parents have a child that the child will have NPC.  It is estimated that 1 in 200 individuals in the general population carries a mutated NPC1 gene.

                Symptoms of
               Niemann-Pick C

Currently there is no definitive
treatment or cure for NPC. NPC most often (over 50% of all cases) occurs in school age children, but symptoms may appear at any age from fetal life to the seventh decade. The first neurological symptoms most often appear in the preschool or early school years  Some of these symptoms are difficulty with upward or downward eye movements, clumsiness, learning difficulties, slurred speech, inability to swallow, loss of motor skills, tremors accompanying movement and seizures. These children eventually are confined to a wheelchair and typically die in their early teen years. 

          History of Niemann-
               Pick Type C
                                                     
The first published reports describing NPC were in 1914 by A. Niemann. In 1927, L. Pick described the distinctive pathology.  The first experimental treatments were tried in the 1950s by Alan Crocker. Multiple treatments such as cholesterol lowering medications, bone marrow transplants, and
medication to stop the accumulation of gangliosides in the brain have been attempted since that time, yet no definitive treatment or cure has been found to date.                     

         Medical Research
         Started  by the
     Families of NPC Children

In February 1992, several parents of children with NPC met at the National Institutes of Health in Bethesda, Maryland. They decided to form a foundation called the Niemann-Pick Type C Foundation, Inc. The Foundation created a newsletter with information and support for families, a directory of NPC families was created and distributed to families, and fund raising began with most of the money being raised for medical research. Also in 1992, a Scientific Advisory Board of doctors and researchers was established. The name of the foundation was changed to the National Niemann-Pick Disease Foundation, Inc. (NNPDF) to include all forms of Niemann-Pick Disease (type A, B and C). In 1993, the first annual family conference was held, and the first research grant was awarded to Dr. Eugene Carstea to identify the genetic cause of NPC. In 1997 the discovery of the NPC1 gene was announced by Dr. Carstea. In 2001, the family conference had 180 people in attendance. The National Niemann-Pick Disease Foundation website was also created in 1997. The website has over 100 pages with an email discussion list and chat room available for use. The discussion list has over 150 members and is used daily by families to ask questions, share advice, and provide support for each other.

There is another foundation for Niemann-Pick type C disease called the Ara Parseghian Medical Research Foundation. It was incorporated in the state of Arizona in 1994 by Cindy and Mike Parseghian. Mike is the son of the famous Notre Dame football coach Ara Parseghian. By 1994, Cindy and Mike had four children, Ara, age 9, Michael, age 7, Marcia, age 6, and Christa, age 3. In August 1994, Michael was diagnosed with NPC. The other children were soon tested for the disease and Marcia and Christa also tested positive for the disease. By October, Cindy and Mike had started the Ara Parseghian Medical Research Foundation. Before the Parseghian Foundation existed, there were two labs dedicated to NPC research. Today there are more than 20 labs dedicated to NPC research. The foundation also has a scientific advisory board of geneticists, molecular biologists, neurologists and pathologists who met every year in Arizona to discuss their progress towards a treatment or cure. The Foundation also funded a genetic counseling and carrier testing center for NPC at the Mayo Clinic in Rochester, Minnesota. By May of 2005, the foundation had raised over $22,000,000 directed towards research for a treatment or cure for NPC. Sadly, Michael Parseghian died of NPC in 1997, Christa died of NPC in 2001 and Marcia died of NPC in 2005. Mike and Cindy Parseghian continue to lead the Ara Parseghian Foundation and continue fund raising for a treatment or cure for NPC. The National Niemann-Pick Disease Foundation and the Ara Parseghian Medical research Foundation work together and share information and resources with one another.

Participation and Collaboration in the NPC Community

The family conference for the National Niemann-Pick Disease Foundation is held every year in August. Families, researchers, doctors and nurses all come together to discuss the progress of research and supportive care for the families affected by NPC.