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WHAT IS SANDHOFF DISEASE? |
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Sandhoff Disease is much less common then Tay Sachs, but it is so similiar that in the way it affects children that most cases cannot be determined without biochemical lab testing. Motor weakness begins in the first six months of life and it keeps progressing. Children have an exaggerated startle to sound, early blindess, progressive motor and mental deterioration, doll like face and Cherry Red Spots are all characteristics of Sandhoff Disease. The loss of swallowinf functions progressively with increased risk of aspiration and several chest and lung infections.
Sandhoff Disease is inherited as an autosomal recessive disorder, but unlike Tay Sachs, it occurs more often in non jewish families. The fatty tissues which accumulates in the child's brain cells is the same in Sandhoff Disease and Tay Sachs. However, the enzyme deficiency in Sandhoff Disease arises from mutation in a different gene on a different chromosome. Mutation in the gene affects both the Hex-A and Hex-B activity. As a result chidren with Sandhoff Disease have almost no hexosaminidase unlike children with Tay Sachs have Hex-B activity, but no Hex-A. Because of the nearly total absence of hexosaminidase activity in affected individuals, laboratory diagnosis of affected children as well as prenantal diagnosis is accurate and reliable. However biochemical testing of the adult carrier requires special care and standardization of the laboratory test. DNA- test are also available in which the beta sub-unit mutations have been identified; when these are known; the DNA test provide the highest level of specificity and accuracy for both carrier testing in relatives and prenatal diagnosis.
Death usually occurs do to the latter problems at about the age of 3 years. |
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SANDHOFF FRIENDS (Chidren With Sandhoff Disease)!!! |
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Joseph Mulligan was born in Omaha, Nebraska on June 30, 2000 to Joe and Melissa Mulligan. He was an older brother to Clayton (below). He received his wings on July 3, 2003 at the age of 3 years and 3 days. See his website at www.mulliganangels.com. |
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Clayton Mulligan was born in Omaha, Nebraska on July 9, 2002 to Joe and Melissa Mulligan. He is a younger brother to Joey (above). See his website at www.mulliganangels.com. |
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Conner Lynn Watkins was born in Kennesaw, Georgia on March 30, 2000 to Rodey and Gina Watkins. He was an older brother to Cailee. He received his wings on March 13, 2004 at the age of 3 years, 11 months, and 13 days. See his website at: www.scnwd.com/CWatkins/Conner.html. |
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Karah Shae Buchanan was born in St. Augustine, Florida on February 14, 2000 to Walt and Michelle Buchanan. She was a younger sister to, Christi, Erika, Evan, and an older sister to Jacob. She received her wings on January 1, 2003 at the age of 2 years, 10 months, and 1 day. See her website at: www.karah.scnwd.com/index.html |
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Zachary Randall Gibson was born in West Virginia on June 1, 2001 to Mike and Camille Gibson. He was the younger brother of Michelle and Michael. He received his wings on January 20, 2005 at the age of 3 years, 6 months, and 20 days. See his website at: www.zachary-gibson.memory-of.com |
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Eric Cochiolo was born in California on January 25, 1999 to William and Nancy Cochiolo. He was the younger brother to Michael and Rebecca. He received his wings on April 10, 2002 at the age of 2 years, 2 months, and 16 days. See his website at: www.hometown.aol.com/cncochiolo/myhomepage/baby.html |
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Gemma Danielle Lea was born in England on December 5, 1998 to Nick and Clare. She was an older sister to Samuel. She received her wings on May 8, 2001 at the age of 2 years, 5 months, and 3 days. See her website at: www.gemmalea.co.uk/ |
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Riley Luce was born in Michigan on September 27, 2002 to David and Nicki. She has no siblings. You can contact her family at: luce@cbpu.com |
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Emily Rose Cone was born in Alabama on September 23, 2003 to Robert and Latasha. She has no siblings. |
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Hannah DeGroot was born in Columbus, Indiana on November 23, 1999 to Jason and Gina. She was a younger sister to Allissa and an older sister to Joshua. She received her wings on November 14, 2001 at the age of 1 year, 11 months, and 21 days. See her website at: www.geocities.com/gide9899/Hannah.html |
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Holden Russell Reamy was born in Cleora, Oklahoma on November 5, 1999 to Greg and Kelli Reamy Holt. He was a younger brother to Hayden, Gared, and Hunter. He received his wings on February 4, 2003 at the age of 3 years, 2 months,and 29 days. |
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Whitney Cordell was born in Oklahoma on March 18, 1996 to Gordon and Shari Cordell. She is an older sister to Jordyn, Blaine, and Devyn. |
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Isabella Hernandez was born in Colorado on June 26, 2003 to Robert Hernandez and Connie Klag. She had no siblings. She received her wings on March 13, 2005 at the age of 1 year, 8 months, and 15 days. You can contact connie at connieklag@yahoo.com |
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Zachary Bloomfield was born in Michigan on September 29, 2004 to Tim and Tracey Graves. He has no siblings. |
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For more information about what Sandhoff Disease is and how it affects people Visit Gina Watkins Site |
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Click Here |
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