logging in or signing up Presentation2 [Autosaved] alondrads1 Download Post to : URL : Related Presentations : Share Add to Flag Embed Email Send to Blogs and Networks Add to Channel Uploaded from authorPOINT lite Insert YouTube videos in PowerPont slides with aS Desktop Copy embed code: (To copy code, click on the text box) Embed: URL: Thumbnail: WordPress Embed Customize Embed The presentation is successfully added In Your Favorites. Views: 10 Category: Entertainment License: All Rights Reserved Like it (0) Dislike it (0) Added: February 06, 2012 This Presentation is Public Favorites: 0 Presentation Description No description available. Comments Posting comment... Premium member Presentation Transcript PowerPoint Presentation: Niemann Pick It’s A Race Against TimeR : R Faith Robbins born 07-03-05: At six months old Faith was diagnosed with Niemann -Pick Type A (NPA) a rare and fatal disease.PowerPoint Presentation: There is no cure for this disease and on February 12, 2007 Faith was forced to leave our side..PowerPoint Presentation: Faith passed only a few months before her brother Chris was born. Unlike his sister he is only a carrier and can expect to live a healthy and full life.PowerPoint Presentation: However, his life wont be normal. Chris has a baby brother, Riley who was born September 15, 2010 and was diagnosed with the same disease that took his sister.PowerPoint Presentation: NP is an inherited and fatal disorder. The symptoms usually begin within the first few months of life.PowerPoint Presentation: NP occurs by mutations in a gene on chromosome 11. Thus, for one to have this disease they would have inherited two faulty genes (1 from each parent,).PowerPoint Presentation: The enzyme affected by the gene defects is called acid sphingomyelinase (ASM) and its job is to break down a fatty substance (lipid) called sphingomyelin (SM) which is found in every cell of the body.PowerPoint Presentation: If ASM is missing or does not work properly, sphingomyelin builds up inside cells. This leads to cell death and makes it hard for organs to work properly .PowerPoint Presentation: Those with Niemann -Pick type A develop progressive failure to thrive, liver dysfunction. It also causes mental disability, loss of motor skills, and enlargement of the liver and spleen and becomes fatal in most by 18 months to 3 years of age.PowerPoint Presentation: By the age of six months, infants with the disease have difficulty feeding, display an enlarged abdomen, and will begin to lose the motor skills they have developedSeizures and spastic movement are common.: Seizures and spastic movement are common.Most will not learn to sit independently, crawl, or walk: Most will not learn to sit independently, crawl, or walkIntellectual and motor skills will progressively and rapidly decline.: Intellectual and motor skills will progressively and rapidly decline.They may even have uncontrollable vomiting, irritability, lung infections, and difficulty sleeping: They may even have uncontrollable vomiting, irritability, lung infections, and difficulty sleepingPlease help our family battle this disease. Support Riley Robbins & NP: Please help our family battle this disease. Support Riley Robbins & NPPowerPoint Presentation: My Friends & Family Will be there ..Will you?We’re on a search for a cure & need your help…: We’re on a search for a cure & need your help… Save the date & Join us March 00 2012 Faith Robbins 07/03/05- 02/12/07 Riley Robbins 09/15/10-Contact Information: Contact Information Website: raceforriley.webs.com Facebook : http://www.facebook.com/profile.php?id=100002234052830 Blog: http://faithandriley.blogspot.com/ Lori Robbins: You do not have the permission to view this presentation. In order to view it, please contact the author of the presentation.
Presentation2 [Autosaved] alondrads1 Download Post to : URL : Related Presentations : Share Add to Flag Embed Email Send to Blogs and Networks Add to Channel Uploaded from authorPOINT lite Insert YouTube videos in PowerPont slides with aS Desktop Copy embed code: (To copy code, click on the text box) Embed: URL: Thumbnail: WordPress Embed Customize Embed The presentation is successfully added In Your Favorites. Views: 10 Category: Entertainment License: All Rights Reserved Like it (0) Dislike it (0) Added: February 06, 2012 This Presentation is Public Favorites: 0 Presentation Description No description available. Comments Posting comment... Premium member Presentation Transcript PowerPoint Presentation: Niemann Pick It’s A Race Against TimeR : R Faith Robbins born 07-03-05: At six months old Faith was diagnosed with Niemann -Pick Type A (NPA) a rare and fatal disease.PowerPoint Presentation: There is no cure for this disease and on February 12, 2007 Faith was forced to leave our side..PowerPoint Presentation: Faith passed only a few months before her brother Chris was born. Unlike his sister he is only a carrier and can expect to live a healthy and full life.PowerPoint Presentation: However, his life wont be normal. Chris has a baby brother, Riley who was born September 15, 2010 and was diagnosed with the same disease that took his sister.PowerPoint Presentation: NP is an inherited and fatal disorder. The symptoms usually begin within the first few months of life.PowerPoint Presentation: NP occurs by mutations in a gene on chromosome 11. Thus, for one to have this disease they would have inherited two faulty genes (1 from each parent,).PowerPoint Presentation: The enzyme affected by the gene defects is called acid sphingomyelinase (ASM) and its job is to break down a fatty substance (lipid) called sphingomyelin (SM) which is found in every cell of the body.PowerPoint Presentation: If ASM is missing or does not work properly, sphingomyelin builds up inside cells. This leads to cell death and makes it hard for organs to work properly .PowerPoint Presentation: Those with Niemann -Pick type A develop progressive failure to thrive, liver dysfunction. It also causes mental disability, loss of motor skills, and enlargement of the liver and spleen and becomes fatal in most by 18 months to 3 years of age.PowerPoint Presentation: By the age of six months, infants with the disease have difficulty feeding, display an enlarged abdomen, and will begin to lose the motor skills they have developedSeizures and spastic movement are common.: Seizures and spastic movement are common.Most will not learn to sit independently, crawl, or walk: Most will not learn to sit independently, crawl, or walkIntellectual and motor skills will progressively and rapidly decline.: Intellectual and motor skills will progressively and rapidly decline.They may even have uncontrollable vomiting, irritability, lung infections, and difficulty sleeping: They may even have uncontrollable vomiting, irritability, lung infections, and difficulty sleepingPlease help our family battle this disease. Support Riley Robbins & NP: Please help our family battle this disease. Support Riley Robbins & NPPowerPoint Presentation: My Friends & Family Will be there ..Will you?We’re on a search for a cure & need your help…: We’re on a search for a cure & need your help… Save the date & Join us March 00 2012 Faith Robbins 07/03/05- 02/12/07 Riley Robbins 09/15/10-Contact Information: Contact Information Website: raceforriley.webs.com Facebook : http://www.facebook.com/profile.php?id=100002234052830 Blog: http://faithandriley.blogspot.com/ Lori Robbins: