Niemann-Pick Disease, What is It? Why is it a Child Killer? Medical Video by Pediatrics

Niemann-Pick Disease, What is It? Why is it a Child Killer?

Pediatrics

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http://www.GabrielleLaVerde.com See Gabrielle on Fox 35: http://www.myfoxorlando.com/myfox/pages/Home/Detail;jsessionid=C0A93F018E2AF589C52619ECD6C09AF9?contentId=5916783&version=1&locale=EN-US&layoutCode=VSTY&pageId=1.1.1&sflg=1 What do we know about Niemann-Pick Disease (NPD) and Types A, B, and C. There is even a Type D which is closely related to Type C. The Name Niemann-Pick derives from two German Pediatricians. Albert Niemann, the first doctor to identify Type A in 1914, and Ludwick Pick, who first identified Type B in 1927. Niemann-Pick Disease (NPD) is closely related to Alzheimer's Disease. and is often called The Childhood Alzheimer's. Patients with NPD Type C are not able to metabolize cholesterol properly in lysosomes. Consequently, excessive amounts of cholesterol accumulate within the liver, spleen, and brain. Signs and Symptoms of Type A may include: feeding difficulties, large abdomen within 3-6 months, a loss of early motor skills, and a rapid decline in the child after 6 months, leading to death by 2 to 3 years of age. In Contrast, the severity and onset of Type B is very variable. Some patients with Type B develop repeated respiratory infections & breathing problems. Life Expectancy of Type B is highly variable, depending on the severity of the symptoms. Type C NPD usually affects children of school age but the disease can strike at any time from early infancy to adulthood. Symptoms of NPD Type C may include jaundice, a large spleen and/or liver, difficulty with upward and downward eye movement. Other symptoms include: clumsiness, and problems in walking, controlling limb movement, slurred or irregular speech, learning difficulties, inability to swallow, and other neurological abnormalities. Life Expectancy of Type C NPD is variable depending on the severity of the symptoms. However, life expectancy after diagnosis is merely 6 - 10 years. Children seldom survive beyond their 15th birthday. With the discovery in 1997 of the primary gene associated with NPD-C, medical research has intensified worldwide. Ara Parseghian, former head coach for University of Notre Dame, inducted into the College Football Hall of Fame in 1980, lost his three grandchildren to NPD Type C. his Grandson, Michael, his Granddaughter, Christa, who passed away at the age of 10 in October 2001, and his Granddaughter Marcia, who passed away at the age of 16, in 2005. NPD is considered an important link in the battles against heart disease, Alzheimer's, stroke and seizure disorders. Join us, in finding a cure for NPD, and Help us Save Gabrielle LaVerde, a first grade student diagnosed with NPD Type C in October, 2007.