tag:blogger.com,1999:blog-66802906143501207642024-03-13T06:41:36.719-07:00Love life and be gentleHappy home, two girls, two boys, one with an extra special chromosome. Loving life. And being gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.comBlogger598125tag:blogger.com,1999:blog-6680290614350120764.post-42626725125433263082013-07-31T18:54:00.001-07:002013-07-31T18:54:39.661-07:00I lost a friend..... The world lost a beautiful person.My friend, Sonja passed away suddenly on Monday. I am heartbroken I can not begin to imagine how devastated her family must be? Sonja loved her family, friends, her critters, the Colorado Rockies, photography, and so much more. <br />
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I took these pics off her Facebook page. I hope they make you smile.<br />
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Goodbye my friend. Fly high.</div>
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Be gentle.<br />
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<br />Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com2tag:blogger.com,1999:blog-6680290614350120764.post-1761576685544236292013-06-30T20:16:00.000-07:002013-06-30T20:16:48.150-07:00These athletes are all championsIt was hot, really hot. It was over 108 degrees. It was a long weekend. They arrived Friday afternoon and were not done competing until Sunday afternoon. They traveled from near and far. They became quick friends. They cheered each other on. They are the athletes of Special Olympics. <br />
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This weekend, athletes from all over Northern California merged on the University of California at Davis arrived to swim, race, compete in tennis and boccie' ball. But more so, these athletes inspire and amazed the parents, friends, fans and volunteers who came to watch them.<br />
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I am very proud to say the Galt athletes were brave ran hard. They made me proud.<br />
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<tr><td class="tr-caption" style="text-align: center;">The torch is arriving</td></tr>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-9437771044564681942013-06-12T18:29:00.000-07:002013-06-12T18:30:08.178-07:00Hug your child tonightI am praying for peace for a family tonight. This family is part of a special group of families. Our family is also part of this group. We met online and have "been there and done that" through so many events with our children together. You see, this special group is for families that have twins, triplets, or more and/or have one or more children with Down Syndrome. We all originally met on a yahoo group. Gradually, we all found each other on Facebook and since have a page where we all keep up to date with our children. We are there to support each other, give advice and just listen.<br />
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When our boys were born, I never felt like we really belonged to the "twin" group. And it was so much different having twins and then having one with Down Syndrome. One day, when the boys were about nine months old, I found the multiples group online and I finally felt like I had found other folk who could understand some of the challenges we were having as a family. We have had a a long friendship. I value that friendship. I love seeing the pictures of my friends children as they grow. We discuss things that work and don't work raising our children. We even exchange Holiday Cards with pictures of our families every year. We welcome other families into our group. They feel accepted.<br />
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Yesterday, one of the families posted than Suzanne was going to go in for a procedure. Later, this Mamma posted on Facebook that Suzanne had a problem under anesthesia. Today, my friend posted.... "Pray for Suzanne, she is getting her wings. Fly baby, fly HIGH! We Love You, Mamma, Dadda and Lindsay!!!"<br />
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Hug your child tonight.<br />
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Be gentle. Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com1tag:blogger.com,1999:blog-6680290614350120764.post-43317774146379070022013-06-03T04:57:00.000-07:002013-06-03T04:57:04.102-07:00A weekend adventure with Grandma and Grandpa to JamestownWill and Davey went on an adventure with Grandma and Grandpa to Jamestown this weekend. They explored the train museum. A great day was had by all.<br />
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-9932909277115249102013-05-29T05:30:00.003-07:002013-05-29T05:30:58.901-07:00New research published about Down SyndromeI found an article about brain research in people with Down Syndrome. <br />
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Interesting................<br />
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Down Syndrome Neurons Show Synaptic Deficit</div>
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Tue, 2013-05-28 10:46</div>
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<span style="line-height: 1.538em;"><span class="image-caption-container image-caption-container-left" style="display: inline-block; float: left; margin: 5px; width: 250px;"><span style="background-color: transparent;"><br />Be gentle.</span><img alt="Karyotype of 21 trisomy (Down syndrome)." class="caption caption-processed" src="http://www.biosciencetechnology.com/sites/biosciencetechnology.com/files/legacyimages/bt1305wisconsin.jpg" style="border: 0px; height: 155px; max-width: 100%; width: 250px;" /><span class="image-caption" style="display: block; font-family: Georgia, 'Times New Roman', Times, serif; font-size: 0.85em; font-style: italic;"><span class="image-title-caption" style="display: block;"></span><span class="image-alt-caption" style="display: block;">Karyotype of 21 trisomy (Down syndrome).</span></span></span>Down syndrome, the most common genetic form of intellectual disability, results from an extra copy of one chromosome. Although people with Down syndrome experience intellectual difficulties and other problems, scientists have had trouble identifying why that extra chromosome causes such widespread effects. </span></div>
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In new research published this week, Anita Bhattacharyya, a neuroscientist at the Waisman Center at <a href="http://www.wisc.edu/" style="color: #575784; text-decoration: none;" target="_blank">UW-Madison</a>, reports on brain cells that were grown from skin cells of individuals with Down syndrome.</div>
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"Even though Down syndrome is very common, it's surprising how little we know about what goes wrong in the brain," says Bhattacharyya. "These new cells provide a way to look at early brain development."</div>
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The study began when those skin cells were transformed into induced pluripotent stem cells, which can be grown into any type of specialized cell. Bhattacharyya's lab, working with Su-Chun Zhang and Jason Weick, then grew those stem cells into brain cells that could be studied in the lab.</div>
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One significant finding was a reduction in connections among the neurons, Bhattacharyya says. "They communicate less, are quieter. This is new, but it fits with what little we know about the Down syndrome brain." Brain cells communicate through connections called synapses, and the Down neurons had only about 60 percent of the usual number of synapses and synaptic activity. "This is enough to make a difference," says Bhattacharyya. "Even if they recovered these synapses later on, you have missed this critical window of time during early development."</div>
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The researchers looked at genes that were affected in the Down syndrome stem cells and neurons, and found that genes on the extra chromosome were increased 150 percent, consistent with the contribution of the extra chromosome.</div>
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However, the output of about 1,500 genes elsewhere in the genome was strongly affected. "It's not surprising to see changes, but the genes that changed were surprising," says Bhattacharyya. The predominant increase was seen in genes that respond to oxidative stress, which occurs when molecular fragments called free radicals damage a wide variety of tissues.</div>
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"We definitely found a high level of oxidative stress in the Down syndrome neurons," says Bhattacharyya. "This has been suggested before from other studies, but we were pleased to find more evidence for that. We now have a system we can manipulate to study the effects of oxidative stress and possibly prevent them."</div>
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Down syndrome includes a range of symptoms that could result from oxidative stress, Bhattacharyya says, including accelerated aging. "In their 40s, Down syndrome individuals age very quickly. They suddenly get gray hair; their skin wrinkles, there is rapid aging in many organs, and a quick appearance of Alzheimer's disease. Many of these processes may be due to increased oxidative stress, but it remains to be directly tested."</div>
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Oxidative stress could be especially significant, because it appears right from the start in the stem cells. "This suggests that these cells go through their whole life with oxidative stress," Bhattacharyya adds, "and that might contribute to the death of neurons later on, or increase susceptibility to Alzheimer's."</div>
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Other researchers have created neurons with Down syndrome from induced pluripotent stem cells, Bhattacharyya notes. "However, we are the first to report this synaptic deficit, and to report the effects on genes on other chromosomes in neurons. We are also the first to use stem cells from the same person that either had or lacked the extra chromosome. This allowed us to look at the difference just caused by extra chromosome, not due to the genetic difference among people."</div>
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The research, published in the <a href="http://www.pnas.org/" style="color: #575784; text-decoration: none;" target="_blank"><em>Proceedings of the National Academy of Sciences</em></a>, was a basic exploration of the roots of Down syndrome. Bhattacharyya says that while she did not intend to explore treatments in the short term, "we could potentially use these cells to test or intelligently design drugs to target symptoms of Down syndrome."</div>
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Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com2tag:blogger.com,1999:blog-6680290614350120764.post-85842017034519107572013-05-20T05:59:00.001-07:002013-05-20T05:59:43.620-07:00The smile of Special OlympicsThis past Saturday was the regional Special Olympics Track Meet in Sacramento. I am always amazed at the courage and pride of these athletes. But take a look at these smiles. These athletes are always smiling!<br />
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<tr><td class="tr-caption" style="text-align: center;">And this is the best way to end the day!</td></tr>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-17946225754364159042013-05-13T06:30:00.002-07:002013-05-13T06:30:27.426-07:00A Mother's Love. A mother's love. Something we take for granted. As a parent, we treasure moments with our children. First smiles, first words, first dates........ Here is a very sad Mother's Day story. But a story of love and courage.<br />
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This is what being a mother is all about.<br />
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Courageous cancer patient, 32, who lived for her baby with Down syndrome passes away on Mother’s Day </h1>
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Jorie Rogers of Ladue, Mo., was thought to be infertile when she became pregnant with son Tristan. The family celebrated the boy’s first birthday in March.</h2>
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BY <a href="http://www.nydailynews.com/authors?author=Sasha%20Goldstein" itemscope="" itemtype="http://schema.org/Person" rel="author" style="border: 0px; color: #015fb6; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none !important; vertical-align: baseline;"><span itemprop="name" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;">SASHA GOLDSTEIN</span> </a>/ NEW YORK DAILY NEWS</h3>
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SUNDAY, MAY 12, 2013, 7:46 PM</h5>
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On Wednesday, Jorie said on Facebook that she had been given one to two weeks to live.</h4>
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Jorie Rogers just wanted to live long enough to celebrate her son’s first birthday.</div>
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She got her wish, but the mother who wasn’t supposed to be a mother, the mother who wanted only the best for her miracle baby with Down syndrome, lost her battle with cancer on Sunday, her second and final Mother’s Day.</div>
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<span style="border: 0px; font-family: Arial; font-size: 12px; line-height: 12px; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;"><span style="background-color: white;">After the birthday party, Jorie said she wanted Tristan to know how hard she fought to be with him.</span><span style="border: 0px; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;"><br /></span></span><br />
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"It's very special because not only are we celebrating my son's first year and everything that he had to go through to get here, but it's the one birthday that I'll get with him," Rogers said in March when she held a carnival-themed party for her son, Tristan. "And we get to celebrate the one year that we had together."</div>
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<img alt="Jorie Rogers was believed to be infertile after her radiation treatments but, after marrying high school sweetheart George Rogers, discovered she was pregnant." src="http://assets.nydailynews.com/polopoly_fs/1.1342102.1368401996!/img/httpImage/image.jpg_gen/derivatives/landscape_635/jorie13n-8-web.jpg" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline; width: 635px;" title="Jorie Rogers was believed to be infertile after her radiation treatments but, after marrying high school sweetheart George Rogers, discovered she was pregnant." /><h4 class="credit" itemprop="copyrightHolder" style="border: 0px; color: #666666; font-size: 10px; font-weight: normal; line-height: 11px; margin: 0px 0px 5px; outline: 0px; padding: 0px; text-align: right; text-transform: uppercase; vertical-align: baseline;">
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Jorie Rogers was believed to be infertile after her radiation treatments but, after marrying high school sweetheart George Rogers, discovered she was pregnant.</h4>
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She had stopped treatment in March after doctors told the Ladue, Mo., mother that her paraganglioma, a rare form of cancer that caused dozens of tumors in her body, had advanced to a point of no return.</div>
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<img alt="The charity 3 Little Birds 4 Life made the birthday party come true. The Illinois-based nonprofit’s founder has vowed to continue helping the family “in any way possible.”" src="http://assets.nydailynews.com/polopoly_fs/1.1342104.1368402004!/img/httpImage/image.jpg_gen/derivatives/landscape_635/jorie13n-6-web.jpg" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline; width: 635px;" title="The charity 3 Little Birds 4 Life made the birthday party come true. The Illinois-based nonprofit’s founder has vowed to continue helping the family “in any way possible.”" /><h4 class="credit" itemprop="copyrightHolder" style="border: 0px; color: #666666; font-size: 10px; font-weight: normal; line-height: 11px; margin: 0px 0px 5px; outline: 0px; padding: 0px; text-align: right; text-transform: uppercase; vertical-align: baseline;">
KSDK</h4>
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The charity 3 Little Birds 4 Life made the birthday party come true. The Illinois-based nonprofit’s founder has vowed to continue helping the family “in any way possible.”</h4>
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“They’ve given me one to two weeks left,” Rogers wrote on her Facebook page on Wednesday. “I guess if anyone wants to drop by for a visit sometime now would be the time to do it. I also realize that death is just too (scary) for some people to face in person and if that’s you, that’s ok too.”</div>
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Rogers’ story is both heartbreaking and heartwarming — a life lived to the fullest but one also cut short.</div>
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<img alt="Jorie Rogers took to Facebook on Wednesday to ask people to make their final visits with her." src="http://assets.nydailynews.com/polopoly_fs/1.1342105.1368402007!/img/httpImage/image.jpg_gen/derivatives/landscape_635/jorie13n-5-web.jpg" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline; width: 635px;" title="Jorie Rogers took to Facebook on Wednesday to ask people to make their final visits with her." /><h4 class="credit" itemprop="copyrightHolder" style="border: 0px; color: #666666; font-size: 10px; font-weight: normal; line-height: 11px; margin: 0px 0px 5px; outline: 0px; padding: 0px; text-align: right; text-transform: uppercase; vertical-align: baseline;">
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Jorie Rogers took to Facebook on Wednesday to ask people to make their final visits with her.</h4>
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The 32-year-old’s radiation treatments were supposed to leave her infertile. But after marrying her high school sweetheart, George Rogers, Jorie found out that she was pregnant. After their baby was born, the couple learned that Tristan had Down syndrome.</div>
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<img alt="Dad George holds Tristan as Jorie and the family enjoy the birthday party." src="http://assets.nydailynews.com/polopoly_fs/1.1342106.1368402009!/img/httpImage/image.jpg_gen/derivatives/landscape_635/jorie13n-4-web.jpg" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline; width: 635px;" title="Dad George holds Tristan as Jorie and the family enjoy the birthday party." /><h4 class="credit" itemprop="copyrightHolder" style="border: 0px; color: #666666; font-size: 10px; font-weight: normal; line-height: 11px; margin: 0px 0px 5px; outline: 0px; padding: 0px; text-align: right; text-transform: uppercase; vertical-align: baseline;">
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Dad George holds Tristan as Jorie and the family enjoy the birthday party.</h4>
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Plagued by medical bills, the Rogers called upon Illinois-based nonprofit 3 Little Birds 4 Life, an organization that grants people with cancer a wish. Jorie’s was for little Tristan to have a first birthday to remember, a carnival with popcorn machines, snow cones, clowns, jugglers and a bounce house.</div>
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<img alt="Tristan with dad George Rogers." src="http://assets.nydailynews.com/polopoly_fs/1.1342107.1368402011!/img/httpImage/image.jpg_gen/derivatives/landscape_635/jorie13n-3-web.jpg" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline; width: 635px;" title="Tristan with dad George Rogers." /><h4 class="credit" itemprop="copyrightHolder" style="border: 0px; color: #666666; font-size: 10px; font-weight: normal; line-height: 11px; margin: 0px 0px 5px; outline: 0px; padding: 0px; text-align: right; text-transform: uppercase; vertical-align: baseline;">
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Tristan with dad George Rogers.</h4>
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Her wish — and Tristan’s — came true, and during a stretch of dreary late March weather, the skies cleared for the big day, leaving the 70 guests basking without jackets in the Midwestern sunshine.</div>
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"I want him to be able to look back on videos and pictures from today and hear the stories about today and for him to know how much his mom loved him,” Jorie then <a href="http://www.ksdk.com/news/article/371156/3/Terminal-cancer-patient-gets-birthday-party-wish-" style="border: 0px; color: #015fb6; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none !important; vertical-align: baseline;" target="_blank">told </a>KSDK-TV. “And for him to know how hard his mom fought to be here for him."</div>
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<img alt="Reflecting on the birthday party’s significance, Jorie offered, “I want (Tristan) to be able to look back on videos and pictures from today ... and for him to know how much his mom loved him.”" src="http://assets.nydailynews.com/polopoly_fs/1.1342108.1368402017!/img/httpImage/image.jpg_gen/derivatives/landscape_635/jorie13n-2-web.jpg" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline; width: 635px;" title="Reflecting on the birthday party’s significance, Jorie offered, “I want (Tristan) to be able to look back on videos and pictures from today ... and for him to know how much his mom loved him.”" /><h4 class="credit" itemprop="copyrightHolder" style="border: 0px; color: #666666; font-size: 10px; font-weight: normal; line-height: 11px; margin: 0px 0px 5px; outline: 0px; padding: 0px; text-align: right; text-transform: uppercase; vertical-align: baseline;">
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Reflecting on the birthday party’s significance, Jorie offered, “I want (Tristan) to be able to look back on videos and pictures from today ... and for him to know how much his mom loved him.”</h4>
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Less than two months later, cancer claimed Jorie’s life. On Mother’s Day, no less.</div>
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Ashley Swip, 3 Little Birds 4 Life’s president and founder, said Jorie had been suffering the last few weeks. Jorie’s husband, George, called Swip on Sunday morning and broke her the news.</div>
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<img alt="Burdened with medical bills, Jorie Rogers called upon a charity that grants cancer patients one wish in order to provide her son a carnival-themed first birthday in March. It would be the only birthday she’d be able to spend with Tristan." src="http://assets.nydailynews.com/polopoly_fs/1.1342109.1368402021!/img/httpImage/image.jpg_gen/derivatives/landscape_635/jorie13n-1-web.jpg" style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline; width: 635px;" title="Burdened with medical bills, Jorie Rogers called upon a charity that grants cancer patients one wish in order to provide her son a carnival-themed first birthday in March. It would be the only birthday she’d be able to spend with Tristan." /><h4 class="credit" itemprop="copyrightHolder" style="border: 0px; color: #666666; font-size: 10px; font-weight: normal; line-height: 11px; margin: 0px 0px 5px; outline: 0px; padding: 0px; text-align: right; text-transform: uppercase; vertical-align: baseline;">
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Burdened with medical bills, Jorie Rogers called upon a charity that grants cancer patients one wish in order to provide her son a carnival-themed first birthday in March. It would be the only birthday she’d be able to spend with Tristan.</h4>
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“Jorie was really special, and today’s been really bittersweet,” Swip said. “I’m so glad we were able to meet her and her family. And we will continue to help the family in any way possible.”</div>
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Jorie was a member of a cancer support group on Facebook. The group’s leader, Tisa Perra, remembered Jorie on Sunday.</div>
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“Today, the world lost a valiant and courageous Pheo Trooper,” Perra wrote. “Jorie Wilson Rogers, was a loving mom, wife, sister, daughter and friend. She fiercely loved her son Tristan like a lioness. Her fighting spirit was an inspiration to many. She lived her life fully despite disease and suffering. May she rest in peace. May she be free from suffering.”</div>
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<span style="border: 0px; font-family: Arial; font-size: 12px; line-height: 12px; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;">Be gentle.</span>Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com1tag:blogger.com,1999:blog-6680290614350120764.post-23414587584005603692013-04-29T05:18:00.003-07:002013-04-29T05:18:27.635-07:00Meaningful employment for those with disabilities?My son is not old enough for a full time job. He is still a full time student. But a question that I am sure must nag all parents who have a child with a disability is how will my child support themselves when they are older? We all also want to enjoy our career, so how do I make sure he has a career that he actually enjoys and feels like a productive member of society? He is an interesting article I found this morning.<br />
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Finding meaningful employment a challenge for those with developmental disabilities</h2>
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By <span class="author vcard" style="border: 0px; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;"><a class="url fn" href="http://www2.ljworld.com/staff/shaun-hittle/" style="border: 0px; color: #125a95; margin: 0px; outline: none; padding: 0px; text-decoration: none; vertical-align: baseline;">Shaun Hittle</a></span></div>
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<abbr class="published" style="border: 0px; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;" title="2013-04-29T00:00:01-0500">April 29, 2013</abbr></div>
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<tr><td style="text-align: center;"><img alt="Ryan Banning looks through one of his vending machines at the Lawrence Airport. Banning has operated his own vending machine business, Ryan's Vending Services, for more than a decade. Banning has Down syndrome, a condition that can limit employment options." height="266" src="http://worldonline.media.clients.ellingtoncms.com/img/photos/2013/04/13/disabled_business_owner_banning_rg011_t180.jpg?370a03faaa4bde2115f371a02430eb3e6a451be5" style="margin-left: auto; margin-right: auto;" width="400" /></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><span style="background-color: white; color: #697a85; font-family: 'Helvetica Neue', Arial, sans-serif; font-size: 14px; line-height: 21px; text-align: start;">Ryan Banning looks through one of his vending machines at the Lawrence Airport. Banning has operated his own vending machine business, Ryan's Vending Services, for more than a decade. Banning has Down syndrome, a condition that can limit employment options.</span></td></tr>
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Lawrence man Ryan Banning is in every sense of the word an entrepreneur. For more than a decade, Banning, 36, has operated his own business, Ryan’s Vending Service, managing a dozen or so vending machines in Lawrence.</div>
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He’s always looking to expand, he said as he loaded the soda and snack machines at the Lawrence Municipal Airport recently.</div>
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And the bottom line for Ryan, who has Down syndrome, is that he enjoys the work and turns a profit.</div>
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“He’s earning, he's paying taxes," said Martha, his mother, who helped conceive of the business idea when Ryan finished high school. "It's been a really good fit for him."</div>
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<strong style="border: 0px; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;">'School to the couch'</strong></div>
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Ryan needs a little help with his small business. A job coach drives him to pick up supplies at Sam's Club and to several local locations, including Visiting Nurses Association and a Kansas University fraternity. Ryan’s father, Bob, helps obtain the vending machines and supplies, and runs the financial side of the business.</div>
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While Ryan has found work that he enjoys, he's the exception for those with developmental disabilities, said Judith Gross, a research associate with the Kansas University’s Beach Center, which advocates for those with disabilities.</div>
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“They graduate from school to the couch,” missing out on socialization and a general sense of self-worth, Gross said. “Work is an important part of everyone’s life.”</div>
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And it's the type of work that makes a big difference, according to Rocky Nichols, executive director of the Disability Rights Center of Kansas.</div>
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While many with developmental disabilities find sub-minimum wage work in very structured workshop settings, that shouldn't be the goal, Nichols said. The focus should be on employment in a typical job setting where those with developmental disabilities work alongside those without disabilities.</div>
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But finding jobs, and employers willing to work with those with developmental disabilities, isn't easy.</div>
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<a href="http://www.dphhs.mt.gov/dsd/ddp/selndocuments/NationalCouncilonDevelopmentalDisabilities.pdf" style="border: 0px; color: #125a95; margin: 0px; outline: none; padding: 0px; text-decoration: none; vertical-align: baseline;">According to a 2011 report</a> from the National Association of Councils on Developmental Disabilities, only 14 percent of adults with a developmental disability are employed in the competitive workforce.</div>
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Overland Park woman Tracey Dickey knows the struggles firsthand. Her son, Cole, a student at Blue Valley Northwest, has one year left in school, and she’s been fighting for the past several years to find Cole a job when when he graduates.</div>
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“It’s scary,” she said. “He has one year left, and then what? It keeps me up at night.”</div>
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Tracey and her son have explored a variety of options, such as supported employment programs, but such programs have waiting lists. And her son has limitations, such as not being able to work a full shift.</div>
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“The job market is tough,” she said. “And he’s competing with people who probably can pull an eight-hour shift.”</div>
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<strong style="border: 0px; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;">FEAT</strong></div>
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Gross and the Beach Center launched Family Employment Awareness Training, or FEAT, in 2010 to help families like Cole’s navigate the complex social service of job coaches, supported employment programs and other benefit services. At trainings for those with disabilities, Gross invites those such as Ryan and his family to speak to other families facing hurdles.</div>
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The biggest hurdle, Gross said, often is convincing families that those with a developmental disability can and should work in a meaningful job.</div>
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There will be struggles, and it takes a dedicated support system. But Martha Banning said the work is well worth it for Ryan and his whole family. “It’s so important to his quality of life,” she said.</div>
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Martha’s advice to other families is to keep fighting, find work that your child enjoys and connect with other local families facing similar barriers.</div>
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Ryan, meanwhile, has become accustomed to the perks of operating his own business. He likes to finish his 20 to 30 hours of work early in the week if he can and cut out by Thursday, enjoying a long weekend.</div>
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While he performs all the day-to-day work of the business, his goal is to eventually hire employees so he can focus on overseeing the operation.</div>
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“Someday, I want to be the boss,” he says.</div>
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As only the boss can do, he’s quick to offer guests a soda from his machine.</div>
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“It’s on me,” he says.</div>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-66610246730373714372013-04-27T07:23:00.000-07:002013-04-27T07:23:02.395-07:00Don't use the word, it's just mean! End the use of the r-word NOW!<div class="separator" style="clear: both; text-align: center;">
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-8864903304592247012013-04-17T06:33:00.001-07:002013-04-17T06:33:31.446-07:00National Down Syndrome Registry. Research and progress<br />
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National Down Syndrome Patient Registry</h1>
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What is the National Down Syndrome Patient Registry?</h2>
The NIH-supported National Down Syndrome Patient Registry will allow people with Down syndrome and their family members, researchers, and parent and support groups to share information and health history in a safe, confidential, online database. Users will be able to create and edit their customizable online profiles, share their profiles with other Registry users, and set reminders for medical care and other appointments and events. The Registry will also provide access to general information about Down syndrome, as well as de-identified statistical data based on user responses to survey questions.<br />
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When will the National Down Syndrome Patient Registry be available?</h2>
Currently, the anticipated launch date for the Registry is July 2013.<br />
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Who can access the Registry?</h2>
Those with Down syndrome and their families will need to provide their consent for the Registry before they can create their password-protected profiles. If a user gives permission to be contacted, then clinicians and researchers who are authorized will contact these individuals to see if they are interested in participating in research studies. The Registry will comply with all regulations and laws governing privacy, personally identifiable information, and health data.<br />
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Why do we need a National Down Syndrome Patient Registry?</h2>
Creating a national registry was a primary recommendation of the 2007 <a href="https://www.nichd.nih.gov/publications/pages/pubs_details.aspx?from=&pubs_id=5695" style="color: purple;" target="_blank">NIH Down Syndrome Research Plan</a>, which helped set goals and objectives for the Down syndrome research field. The development of the national registry was also supported by the Down Syndrome Consortium, a public-private partnership established in 2011 to further the exchange of information on Down syndrome research and to implement and update the Research Plan.<br />
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<a href="http://downsyndrome.nih.gov/registry/Pages/default.aspx">http://downsyndrome.nih.gov/registry/Pages/default.aspx</a><br />
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Be gentle.<br />
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Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-40226253749161656772013-04-15T07:02:00.001-07:002013-04-15T07:02:13.202-07:00Breaking barriers. It takes just one.<div class="separator" style="clear: both; text-align: center;">
<a href="http://2.bp.blogspot.com/-Sgq0rSNpmoM/UWwFAachUUI/AAAAAAAAHRM/Zgg5oy5mDxc/s1600/e9b6850ca42c11e28dc722000a1fbcbc_6.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="http://2.bp.blogspot.com/-Sgq0rSNpmoM/UWwFAachUUI/AAAAAAAAHRM/Zgg5oy5mDxc/s1600/e9b6850ca42c11e28dc722000a1fbcbc_6.jpg" /></a></div>
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Today in the baseball world, one brave man is celebrated. That man, Jackie Robinson, broke the color barrier and became the first black man to play in major league baseball. An amazingly brave man, or just a man out to play the game he loved, Jackie Robinson is a hero in my mind. How the world would be a different place today without him.<br />
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<em class="date" style="background-color: #f1f1ea; border: 0px; color: #333333; font-family: 'Times New Roman', Times, serif; font-size: 1.167em; font-weight: 700; margin: 0px; outline: 0px; padding: 0px; vertical-align: baseline;">Apr 15, 1947:</em><span style="background-color: #f1f1ea; color: #666666; font-family: helvetica; font-size: 12px; line-height: 12px;"></span><br />
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Jackie Robinson breaks major league color barrier</h1>
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<span style="background-color: white;">On April 15, 1947, <a href="http://www.history.com/topics/jackie-robinson" style="border: 0px; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">Jackie Robinson</a> becomes the first African-American in the major leagues when he plays his first game with the Brooklyn Dodgers.</span></div>
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<span style="background-color: white;">Jack Roosevelt Robinson was born into a family of sharecroppers on January 31, 1919, in Cairo, <a href="http://www.history.com/topics/georgia" style="border: 0px; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">Georgia</a>. He attended UCLA, where he became the first athlete to letter in four varsity sports: baseball, basketball, football and track. He served in the U.S. Army from 1942 to 1944 and was honorably discharged after facing insubordination charges for refusing to move to the back of a segregated bus.</span></div>
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<span style="background-color: white;">After leaving the military, Robinson played shortstop for the Kansas City Monarchs in the Negro League. In 1945, he was recruited by Dodgers president and general manager Branch Rickey, who was determined to end the unwritten segregation rule in the majors. In 1946, Robinson joined the Dodgers’ farm team, the Montreal Royals, and went on to lead the league in batting. On April 15, 1947, 28-year-old Jackie Robinson made his Major League Baseball debut with the Dodgers, against the Boston Braves, in front of more than 25,000 spectators at Ebbets Field in Brooklyn, <a href="http://www.history.com/topics/new-york" style="border: 0px; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">New York</a>. Robinson played first base and went zero for three at the plate.</span></div>
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<span style="background-color: white;">During his first season in the majors, Robinson encountered racism from opposing teams and fans, as well as some of his own teammates. However, the abuse didn’t affect his performance on the baseball field. Robinson played in 151 games, hit .297, stole more bases than anyone else in the National League and was awarded the first-ever Rookie of the Year title. In 1949, Robinson, who had switched to playing second base, was named the National League’s Most Valuable Player. The next year he became the Dodgers’ highest paid player, earning a salary of $35,000. In 1955, Robinson helped the Dodgers defeat the New York Yankees to win the World Series. He retired from baseball after playing his last game on October 10, 1956, with a career batting average of .311, 1,518 hits and 137 home runs.</span></div>
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<span style="background-color: white;">After leaving baseball, Robinson worked as a business executive and continued his involvement in civil rights causes. On October 24, 1972, he died at age 53 from heart problems and complications related to diabetes. Robinson became the first African-American inducted into the Baseball Hall of Fame in 1962, his first year of eligibility. In 1997, on the 50th anniversary of his historic first game in the majors, Robinson’s uniform number--42--was retired by Major League Baseball.</span></div>
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As a parent of a child with special needs, I would love to see our children accepted into society the way Jackie Robinson finally accepted Jackie Robinson. It was a LONG HARD road for Jackie and those that supported Jackie. I guess this road is the road taken by us parents of a child with a special need, since our children need to be part of today;s world and a active participant in the society in which they live.<br />
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<a href="http://2.bp.blogspot.com/-mXKJ26scPZg/UWwIVaV1L4I/AAAAAAAAHRk/5p1EY6bB5uQ/s1600/646_1066319691912_3771_n.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="233" src="http://2.bp.blogspot.com/-mXKJ26scPZg/UWwIVaV1L4I/AAAAAAAAHRk/5p1EY6bB5uQ/s320/646_1066319691912_3771_n.jpg" width="320" /></a></div>
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Jackie Robinson, I salute you.<br />
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-22427459214054876492013-04-12T06:32:00.005-07:002013-04-12T06:32:51.157-07:00OH NO! It happened again. A family is denied membership because their child has Down Syndrome.I can not believe this. Well, maybe I can. A family id denied membership to their local gym because their teen happens to have Down Syndrome. Really? You have got to be kidding. Read on to learn about this family. Do we really need to "point out" that we have a child that is different? I think not. <br />
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Family: Teen with down syndrome turned away from gym</h3>
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<em class="wnDate" style="background-color: white; clear: both; color: #d62c2e; display: block; font-family: arial, verdana, sans-serif; font-size: 11px; line-height: 0.5em; margin: 0px 0px 8px; padding: 0px;"><br /></em><em class="wnDate" style="background-color: white; clear: both; color: #d62c2e; display: block; font-family: arial, verdana, sans-serif; font-size: 11px; line-height: 0.5em; margin: 0px 0px 8px; padding: 0px;">Posted: Apr 10, 2013 3:39 PM PDT</em><em class="wnDate" style="background-color: white; clear: both; color: #d62c2e; display: block; font-family: arial, verdana, sans-serif; font-size: 11px; line-height: 0.5em; margin: 0px 0px 8px; padding: 0px;">Updated: Apr 10, 2013 3:50 PM PDT</em><div id="WNStoryByline" style="background-color: white; clear: both; font-family: arial, verdana, sans-serif; font-size: 11px; margin: 0px 0px 8px; padding: 0px; width: 630px;">
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By Justin Hanson - <a href="http://www.wmctv.com/Global/story.asp?S=8005987" style="clear: both; color: rgb(59, 89, 152) !important; display: inline; font-family: inherit; font-size: 1em !important; margin: 0px; padding: 0px; text-decoration: none !important;" target="_blank" title="">bio</a><span class="addthis_separator" style="clear: both; color: #a1a1a1; display: inline; font-family: inherit; font-size: inherit; line-height: 16px; margin: 0px; padding: 0px;"> | </span><a href="mailto:jhanson@wmctv.com?body=http://www.kltv.com/story/21936730/family-teen-with-down-syndrome-turned-away-from-gym" style="clear: both; color: rgb(59, 89, 152) !important; display: inline; font-family: inherit; font-size: 1em !important; margin: 0px; padding: 0px; text-decoration: none !important;" target="_self" title="">email</a></div>
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(WMC-TV) - A Mid-South family with two children says they tried to join a fitness center earlier this week but were turned away because the staff was not trained to deal with one of their children, who has Down Syndrome.</div>
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"After we purchased our family membership, we could only bring three-quarters of our family," said mother Sherrie Cates.</div>
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No matter the day or circumstance, 13-year-old Mollie Cates is a happy young lady.</div>
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Her parents said they were shocked at how they were treated when they took Mollie and her older sister to Ripley Family Fitness Center Monday.</div>
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"We got turned away because of her," said father Kevin Cates.</div>
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Kevin and his wife said it was the first time all four family members had been to the gym together.</div>
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"Their brochure says they don't turn anyone away, anyone can come in. But, we were met at the door and they said their staff isn't trained to deal with anyone like Mollie," said Sherrie.</div>
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Sherrie said her daughter is in a regular class at school and even participates in physical education. She said there is no reason she should not be able to go to the gym.</div>
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"We were never given a chance to say, 'We'll be with her. This is how we can work with her.' We were just told, 'No, there's no one here who can work with her,'" said Sherrie.</div>
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The gym is owned and operated by the city of Ripley. City attorney Steve Crain said the gym has never come in contact with a customer with Down Syndrome.</div>
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Crain says they are working now on ways to accommodate Mollie Cates.</div>
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"She needs to be strong and healthy just like everyone else. I want her to have that chance," said Kevin.</div>
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City Attorney Steve Crain says the Cates family never included Mollie's name on the official application, which also requires a doctor's statement for membership.</div>
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Crain calls the whole thing a misunderstanding.</div>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com3tag:blogger.com,1999:blog-6680290614350120764.post-85877026922789021572013-04-10T06:53:00.000-07:002013-04-10T06:53:20.634-07:0013 things not to say to a Mom of a child with Down Syndrome (according to the Huffington Post)<br />
This is from the Huffington Post. I have heard quite a few of these. Have you?<br />
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13 Things Never to Say to the Mom of a Child With Down Syndrome</h1>
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<span class="arial_11 color_696969" style="border: none; color: rgb(105, 105, 105) !important; font-family: Arial; font-size: 11px; list-style: none; margin: 0px; padding: 0px;">Posted: 04/09/2013 10:42 am</span></div>
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<em style="border: none; list-style: none; margin: 0px; padding: 0px;">Written by <a href="http://thestir.cafemom.com/blogger/16/jeanne_sager" style="border: none; color: #5e3786; cursor: pointer; list-style: none; margin: 0px; outline: none; padding: 0px; text-decoration: none;" target="_hplink">Jeanne Sager</a> on CafeMom's blog, <a href="http://thestir.cafemom.com/baby/152956/13_things_never_to_say" style="border: none; color: #5e3786; cursor: pointer; list-style: none; margin: 0px; outline: none; padding: 0px; text-decoration: none;" target="_hplink">The Stir</a>.</em></div>
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People can say some of the most hurtful things. Think you've heard some truly awful stuff? Try being the parent of a child with Down syndrome.</div>
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Babies with Down syndrome are born with 47 chromosomes instead of 46, and the severity of their symptoms varies. But there are some pretty common physical signs that accompany Down syndrome, and that opens these kids -- and their parents -- up to everything from rude staring to downright cruel comments.</div>
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Sadly, some people don't even realize they're being offensive.</div>
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The Stir asked the parents of some children with Down syndrome to share some of the ridiculous comments they hear most often about their beautiful babies.</div>
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1. Oh, he looks so normal. Normal as opposed to what?</div>
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2. I'm so sorry. "What the hell are they sorry for?" asks Jennifer Lister, mom of little Riley, who refers to her daughter's condition as "Up syndrome." "For not being blessed themselves with a child who has UP syndrome?"</div>
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3. What's wrong with her face? Nothing! She was born that way!</div>
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4. She doesn't even look Downs. Kids with DS aren't carbon copies of one another!</div>
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5. They don't live very long, do they? Actually, medicine and science have come a long way. According to the National Institutes of Health, "Although many children have physical and mental limitations, they can live independent and productive lives well into adulthood."</div>
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6. I hate being told my daughter can grow up to be a Wal-Mart greeter.</div>
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7. What is going to happen to her when you die?</div>
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8. I hate hearing people telling me what they think he will and won't be able to do in the future when he isn't even a year old yet!</div>
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9. I find the Down syndrome stereotype ridiculous, that DS people are kind, loving, and gentle. Not my daughter. She is strong willed, defiant, and kind of a brat. Oh, and her teachers have called her manipulative from a very early age. Although I love her just the same!</div>
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10. I had someone ask me if I was going to have my son fixed so he wouldn't have kids.</div>
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11. When my child was in newborn care, another mother told me I was really lucky because Down syndrome babies are so placid. I am lucky, but not for that reason!</div>
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12. Did you consider abortion?</div>
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13. One doctor asked us if we wanted our daughter to have plastic surgery on her face.</div>
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What's the most ridiculous thing you've heard about a child with Down syndrome?</div>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com1tag:blogger.com,1999:blog-6680290614350120764.post-7295600231859461312013-04-04T06:18:00.002-07:002013-04-04T06:18:32.108-07:00Prenatal test? Prenatal screening? Confusion...... A tough callTechnology is changing and improving so quickly in the field of prenatal screening. But who is there for the patient and their family when this screening creates more questions? <br />
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Here is a recent article in the Wall Street Journal. How will this technology change the way pregnancies are managed?<br />
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Tough Calls on Prenatal Tests</h1>
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Companies Race to Promote New Genetic Screen for Down Syndrome; Worries About Patient Confusion</h2>
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By <a data-ls-seen="1" href="http://online.wsj.com/search/term.html?KEYWORDS=CHRISTOPHER+WEAVER&bylinesearch=true" style="color: #093d72; letter-spacing: 1px; outline: none; text-decoration: none; text-transform: uppercase;">CHRISTOPHER WEAVER</a></h3>
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New prenatal blood tests for genetic abnormalities such as Down syndrome are reshaping care for expectant mothers, but their rapid rollout has raised fears that poorly understood results could lead to confusion among patients and doctors managing high-risk pregnancies.</div>
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Four companies, including <a class="companyRollover link11unvisited" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=SQNM" style="color: #093d72; outline: none;">Sequenom</a> Inc. <span data-change="-0.19" data-changepercent="-4.909560723514212" data-company-name="Sequenom Inc." data-country="US" data-datetime="Apr. 3, 2013 4:00 PM" data-exchange-iso="XNAS" data-iso="$" data-offset="-4" data-pc="3.870" data-price="3.87" data-ticker-name="SQNM" data-ticker="SQNM" data-volume="3843970.00" data-widget="dj.ticker" id="0.1311761348042637"><a class="tkrQuote tkrNegative" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=SQNM?mod=inlineTicker" style="background-color: #ffcccc; background-position: initial initial; background-repeat: initial initial; border-bottom-left-radius: 3px; border-bottom-right-radius: 3px; border-top-left-radius: 3px; border-top-right-radius: 3px; border: 1px solid rgb(204, 0, 0); color: #cc0000; display: inline-block; font-size: 0.85em; line-height: 1.3em; outline: none; padding: 0px 5px; text-decoration: none;" target=""><span class="tkrName">SQNM</span> <span class="tkrChange">-4.91%</span></a></span> and a unit of gene-sequencing firm <a class="companyRollover link11unvisited" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=ILMN" style="color: #093d72; outline: none;">Illumina</a> Inc., <span data-change="-0.25" data-changepercent="-0.45846323124885385" data-company-name="Illumina Inc." data-country="US" data-datetime="Apr. 3, 2013 4:00 PM" data-exchange-iso="XNAS" data-iso="$" data-offset="-4" data-pc="54.530" data-price="54.28" data-ticker-name="ILMN" data-ticker="ILMN" data-volume="1431402.00" data-widget="dj.ticker" id="0.9385423334315419"><a class="tkrQuote tkrNegative" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=ILMN?mod=inlineTicker" style="background-color: #ffcccc; background-position: initial initial; background-repeat: initial initial; border-bottom-left-radius: 3px; border-bottom-right-radius: 3px; border-top-left-radius: 3px; border-top-right-radius: 3px; border: 1px solid rgb(204, 0, 0); color: #cc0000; display: inline-block; font-size: 0.85em; line-height: 1.3em; outline: none; padding: 0px 5px; text-decoration: none;" target=""><span class="tkrName">ILMN</span> <span class="tkrChange">-0.46%</span></a></span> are vying for the new market for the tests, which examine traces of fetal DNA in the mother's bloodstream. The market has grown rapidly since the tests were first introduced in late 2011—with Sequenom alone topping 61,000 tests in 2012. The industry expects that at current rates it will run hundreds of thousands of tests this year, and many doctors believe they could fast become the standard of care for pregnant women.</div>
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Ultrasound can be used to help screen for Down syndrome.</div>
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Read More</h3>
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At the same time, case reports of inaccurate results—though rare—are turning up more frequently than expected, medical specialists say. They worry that in the worst-case scenario, inaccurate test results could contribute to the abortion of healthy babies.</div>
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Members of the American College of Medical Genetics and Genomics question whether the products should be called "tests" at all. The group plans to release a statement renaming them "screenings," to indicate they predict risk rather than give definitive results, according to Anthony Gregg, a board member at the college and a specialist in treating high-risk pregnancies.</div>
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As physicians begin deploying the tests more routinely, experts worry they are being used in lieu of more invasive—but more definitive—diagnostic measures such as amniocentesis, in which a needle as long as 6 inches is inserted into the womb to extract fluid. That test carries a slight risk—generally estimated at well below 1%—of inducing miscarriage. Some clinics have promoted the new tests as a safer alternative.</div>
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Test makers and experts say positive results in a blood test should be confirmed with invasive procedures. Negative results may help rule out the need for such procedures.</div>
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But there is a risk that aggressive marketing based on test performance from the early clinical trials could confuse physicians and patients with complex information, said Girish Putcha, a practicing molecular-genetics pathologist and former laboratory director for Ariosa Diagnostics Inc., one of the test makers.</div>
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In translating clinical trials—focused on high-risk women and carried out in controlled environments—"to the actual practice of medicine, the numbers usually tend to be not quite as good," Dr. Putcha said, speaking broadly about the industry. "The question is, how not-quite-as-good?"</div>
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Test Race</h3>
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<li style="background-image: url(http://s1.wsj.net/img/orange_bullet.gif); background-position: 0px 5px; background-repeat: no-repeat no-repeat; color: #333333; font-size: 1.2em; line-height: 1.2em; margin: 0px 0px 0.5em; padding: 0px 0px 0px 8px;"><strong>Ultrasound screening:</strong> Doctors can predict Down syndrome by seeing a thicker-than-normal layer of fluid behind the neck of a fetus. Up to 70% accurate</li>
<li style="background-image: url(http://s1.wsj.net/img/orange_bullet.gif); background-position: 0px 5px; background-repeat: no-repeat no-repeat; color: #333333; font-size: 1.2em; line-height: 1.2em; margin: 0px 0px 0.5em; padding: 0px 0px 0px 8px;"><strong>Serum tests:</strong> Combining ultrasound with blood tests seeking certain proteins can improve detection rates. Alone, the blood tests are less precise. Up to 87% accurate</li>
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Commercial performance so far tracks with clinical studies based on physician feedback, said Ken Song, chief executive of Ariosa. The company has "always been trying to position this as a screen," he said. Still, Dr. Song said, "you've got confusion because you have multiple competing interests," including competitive companies, medical societies with varying guidelines, and an array of doctors in the field with different views about the tests.</div>
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The debate shows the challenges of pushing the predictive power of genomic science from the lab into the world of work-a-day medicine. Studies funded by the companies show the blood tests accurately predict roughly 99% of positive results for Down syndrome, though some are less accurate for two other abnormalities.</div>
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The largest studies are limited to a few hundred positive results, and some exclude patients whose conditions may result in inconclusive findings, such as those with samples that lack sufficient DNA fragments related to the pregnancy or have irregularities that confuse results.</div>
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That has left women and their doctors to sort out the value and limitations of the tests in real-world clinical settings, where many patients have a strong incentive to favor a test that might help avoid amniocentesis.</div>
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"Women and physicians will do almost anything to reduce their need for invasive testing. That is why it is taking off," said Lee Shulman, chief of clinical genetics for Northwestern Medicine's obstetrics unit in Chicago. But while the tests are "a profound improvement over the tarot cards we used to use" to screen for risk, they don't replace amniocentesis, he said.</div>
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In one case, Dr. Shulman, who consults for Sequenom and Natera Inc., another test maker, said one patient who had received a positive Sequenom test result for a chromosomal abnormality arrived at his clinic seeking to terminate her pregnancy, but amniocentesis showed the fetus was normal.</div>
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The Companies Behind the Tests</h3>
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Four companies have introduced new prenatal tests for Down syndrome and two other chromosomal abnormalities since late 2011. They are on track to do hundreds of thousands of tests this year.</div>
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<strong>Sequenom Inc.</strong></div>
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The publicly traded pioneer of the industry launched its test, MaterniT21 PLUS, in the fall of 2012. Weekly sales soared last year from a few hundred per week to more than 2,500 showing the expotential curve of adoption in medical practices.</div>
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<strong>Ariosa Diagnostics Inc.</strong></div>
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The venture-capital backed firm arrived on the market second, in May, 2012. An agreement with Laboratory Corp. of America to market the test helped pave the way for quick catch up.</div>
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<strong>Verinata Health Inc.</strong></div>
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Just over six-months after launching a test in late May of 2012, Illumina Inc., the sequencing giant, acquired the firm in a bid to move from the business of selling genomics equipment to providing direct services in the industry.</div>
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<strong>Natera Inc.</strong></div>
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The late-comer formally launched its version of the test last month, ahead of a forthcoming publication of a study validating its approach. The nine-year-old firm makes other prenatal tests, too.</div>
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Source: The companies, WSJ reporting</div>
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"I'm doing everything I can do to promote the message" that positive results should be confirmed with invasive testing, said Allan Bombard, chief medical officer at Sequenom. "False positives are not unexpected," he said, "and there are other things that can confound us."</div>
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The tests aren't approved by the U.S. Food and Drug Administration. So-called laboratory-developed tests, performed at a single facility with proven technical expertise, historically haven't required clearance, a policy the agency is reviewing in light of the new wave of complex genomic tests. These tests are done at the makers' own labs. Generally, test kits sold to other laboratories do require approval.</div>
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The tests have quickly changed care. At the Cleveland Clinic, doctors perform 50% fewer invasive procedures, thanks to the testing advances, said Jeff Chapa, section head of obstetrics and maternal-fetal medicine.</div>
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"This is my first child, and I'm 43. I'm not sure I want to risk this miracle that I have," said Jennifer Turcotte of Redwood, Calif., who is 14 weeks into her pregnancy and at risk of abnormalities because of her age. After learning about the miscarriage rates associated with invasive testing, she opted to receive one of the new tests at Lucile Packard Children's Hospital. The results tentatively ruled out problems. It "took a lot of that stress and anxiety away," she said.</div>
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In addition to reducing the risks of complications, the tests appeal to women because they can be performed earlier in a pregnancy—beginning at about 10 weeks, offering a head start on potentially difficult decisions.</div>
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But false-positive results raise the specter that women could choose to terminate healthy pregnancies if they don't receive appropriate follow-up care. False-negative results, which are rarer, also present a quandary for women and doctors who may not find out until much later that a fetus has an abnormality.</div>
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Some medical practices advertise the tests as a way to avoid amniocentesis. New Jersey Perinatal Associates in Livingston, N.J., describes Sequenom's MaterniT21 test in a promotional page of its website as "an alternative to traditional" methods, and notes that unlike invasive tests, it "is a simple blood test that is noninvasive to you and your baby."</div>
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"All patients want to hear that you don't need to have something invasive," said Laura Limone, genetic-counseling supervisor at the perinatal group and a member of Sequenom's speakers bureau. "Those who understand the technology find it very promising, but we also know it isn't perfect yet," and patients with positive results are advised to undergo follow-up invasive testing, she said.</div>
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In one case published online by the American Journal of Obstetrics & Gynecology, a positive result from one of the new tests—together with preliminary results from another less-precise invasive measure—prompted a patient to terminate her pregnancy without undergoing a confirmatory amniocentesis. Testing of tissue from the aborted fetus showed the pregnancy was normal, the report said.</div>
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Though companies say patients should confirm positive results with invasive procedures, such case studies show "that message isn't driven home enough," said Athena Cherry, director of Stanford University Medical Center's cytogenetics laboratory. In her lab, Dr. Cherry said she had found four out of six positive results for Trisomy 18, or Edwards syndrome, which the tests also detect, appeared to be false alarms after follow-up testing.</div>
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Sometimes, the reasons for these rare errors aren't fully understood, doctors say. Obese mothers, twin fetuses, and a phenomenon called mosaicism, in which placenta DNA differs from fetal DNA, among other things, could confuse results. In one recently reported case, researchers believe inaccurate test results were linked to a previously undiagnosed cancer in the mother.</div>
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At least one case of a false-negative report also raised questions. Verinata, Illumina's testing unit, incorrectly cleared a New York woman's fetus of Down syndrome, according to the case report presented at a medical society meeting last month. Further testing prompted by unusual ultrasound readings later determined that the fetus did, in fact, have Down syndrome, and the patient opted to terminate the pregnancy.</div>
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"I didn't know what to expect when I was told to see these specialists for this prenatal testing," said the 35-year-old woman, who asked not to be named because she hadn't discussed her abortion last fall with family members. "It was my first pregnancy so we really wanted to avoid [invasive testing] at all cost if we could. But we were getting no answers."</div>
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At the time, Verinata's testing materials claimed 100% sensitivity in detecting Down syndrome. The firm has since revised the assertion to ">99.9%."</div>
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Rachel Allen, a genetic counselor at the Poughkeepsie, N.Y., medical practice that caught the error, said she was puzzled by the test's failure. "Before we all get caught up in the hype, we really need to pay attention to how we can best utilize it," she said.</div>
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Verinata will soon publish a review of its field performance over its first nine months on the market, said Richard Rava, chief scientific officer for the testing firm. He expects the results to be "completely consistent" with the high detection rates shown in clinical trials, though he acknowledged the test had missed the New York case.</div>
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Dr. Rava said Verinata changed the statistics in its testing materials because "doctors were uncomfortable with anything on a report that said it was going to be 100% accurate."</div>
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Verinata's test reports include information about limitations, such as confidence intervals—a measure of the precision of an estimate—for such statistics, and fine print advises that patients receive additional testing "if a definitive diagnosis is desired."</div>
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The FDA has asked some of the companies for information about whether their products should be more closely regulated. A proposal to regulate certain "high-risk" laboratory tests, including the new prenatal screenings, has been in the works for two years and is under "administrative review," the agency said.</div>
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"We have been trying to plug some of the regulatory gaps," said Alberto Gutierrez, who leads the FDA's in vitro diagnostics group. "We want to make sure the performance of the test is good so people can make the decisions that they're going to make."</div>
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Sequenom recently released data suggesting its real-world performance tracked with trial results, based on physician feedback. "It's not the same type quality control as a controlled trial," Sequenom's Dr. Bombard said, though he expects doctors to proactively report unusual results. He said the company had sought to be conservative in its rollout by limiting the test to women with risk factors and recommending that it be administered in conjunction with genetic counseling.</div>
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Meanwhile, insurers, including <a class="companyRollover link11unvisited" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=UNH" style="color: #093d72; outline: none;">UnitedHealth Group</a>, <span data-change="-0.07" data-changepercent="-0.11350737797956867" data-company-name="UnitedHealth Group Inc." data-country="US" data-datetime="Apr. 3, 2013 4:00 PM" data-exchange-iso="XNYS" data-iso="$" data-offset="-4" data-pc="61.670" data-price="61.67" data-ticker-name="UNH" data-ticker="UNH" data-volume="9945950.00" data-widget="dj.ticker" id="0.6264650947414339"><a class="tkrQuote tkrNegative" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=UNH?mod=inlineTicker" style="background-color: #ffcccc; background-position: initial initial; background-repeat: initial initial; border-bottom-left-radius: 3px; border-bottom-right-radius: 3px; border-top-left-radius: 3px; border-top-right-radius: 3px; border: 1px solid rgb(204, 0, 0); color: #cc0000; display: inline-block; font-size: 0.85em; line-height: 1.3em; outline: none; padding: 0px 5px; text-decoration: none;" target=""><span class="tkrName">UNH</span> <span class="tkrChange">-0.11%</span></a></span> <a class="companyRollover link11unvisited" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=WLP" style="color: #093d72; outline: none;">WellPoint</a><span data-change="-0.31" data-changepercent="-0.4528191644756062" data-company-name="WellPoint Inc." data-country="US" data-datetime="Apr. 3, 2013 4:01 PM" data-exchange-iso="XNYS" data-iso="$" data-offset="-4" data-pc="68.460" data-price="68.15" data-ticker-name="WLP" data-ticker="WLP" data-volume="2075715.00" data-widget="dj.ticker" id="0.31733363680541515"><a class="tkrQuote tkrNegative" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=WLP?mod=inlineTicker" style="background-color: #ffcccc; background-position: initial initial; background-repeat: initial initial; border-bottom-left-radius: 3px; border-bottom-right-radius: 3px; border-top-left-radius: 3px; border-top-right-radius: 3px; border: 1px solid rgb(204, 0, 0); color: #cc0000; display: inline-block; font-size: 0.85em; line-height: 1.3em; outline: none; padding: 0px 5px; text-decoration: none;" target=""><span class="tkrName">WLP</span> <span class="tkrChange">-0.45%</span></a></span> and <a class="companyRollover link11unvisited" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=AET" style="color: #093d72; outline: none;">Aetna</a>, <span data-change="0.13" data-changepercent="0.2394106813996317" data-company-name="Aetna Inc." data-country="US" data-datetime="Apr. 3, 2013 4:00 PM" data-exchange-iso="XNYS" data-iso="$" data-offset="-4" data-pc="54.300" data-price="54.43" data-ticker-name="AET" data-ticker="AET" data-volume="5486921.00" data-widget="dj.ticker" id="0.7181931850500405"><a class="tkrQuote tkrPositive" data-ls-seen="1" href="http://online.wsj.com/public/quotes/main.html?type=djn&symbol=AET?mod=inlineTicker" style="background-color: #eafaea; background-position: initial initial; background-repeat: initial initial; border-bottom-left-radius: 3px; border-bottom-right-radius: 3px; border-top-left-radius: 3px; border-top-right-radius: 3px; border: 1px solid rgb(0, 153, 0); color: #009900; display: inline-block; font-size: 0.85em; line-height: 1.3em; outline: none; padding: 0px 5px; text-decoration: none;" target=""><span class="tkrName">AET</span> <span class="tkrChange">+0.24%</span></a></span> have started covering the tests, which cost between $795 for Ariosa's product and $2,700 for Sequenom's, but only for women with risk factors, such as those over 35 years old.</div>
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Physicians and test makers are split over whether the test should be distributed more widely, with some test makers beginning to sell to the broader market. There is also a hope the tests could eventually be used to gather more definitive diagnoses.</div>
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"Noninvasive prenatal [testing] as a whole has the potential to someday replace invasive procedures," said Jonathan Sheena, chief technology officer at Natera, the latest company to enter the fray. "The field has taken a giant leap forward," he said, "but we believe it is important to understand they don't replace invasive tests yet."</div>
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What are your thoughts?<br />
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-84532695286504053162013-03-28T06:39:00.001-07:002013-03-28T06:39:31.720-07:00This COULD happen to your childCould this really happen to your child? You bet. How do we prevent this from happening to your child? You tell me? I am in shock that the people we teach are here to protect our children caused the death of this young man. What can you do? What can we do?<br />
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<span class="entry-title">Autopsy report gives details in death of man with Down syndrome at Md. theater</span></h1>
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<span class="entry-title"><img src="http://www.washingtonpost.com/rf/image_404h/2010-2019/WashingtonPost/2013/03/08/Production/Daily/Editorial-Opinion/Images/Didsabled_Man_Custody_Death_0f727.jpg" /></span></div>
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By <span class="author vcard" style="color: #666666;"><span class="fn"><a href="http://www.washingtonpost.com/theresa-vargas/2011/03/09/AB5CIoP_page.html" rel="author" style="color: black; text-decoration: none;">Theresa Vargas</a></span></span>, <a href="http://www.washingtonpost.com/local/autopsy-report-gives-details-in-death-of-man-with-down-syndrome-at-md-theater/2013/03/27/43848e64-971a-11e2-b68f-dc5c4b47e519_story.html#license-43848e64-971a-11e2-b68f-dc5c4b47e519" id="license-43848e64-971a-11e2-b68f-dc5c4b47e519" rel="item-license" style="color: black; text-decoration: none;"></a><span class="timestamp updated processed" contenttype="article" datetitle="published" epochtime="1364425597000" pagetype="leaf" style="color: #6e6e6e;">Published: March 27</span></h3>
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<span class="dateline"></span>Robert Ethan Saylor didn’t like to be touched, and suddenly an off-duty deputy had his hands on him. Within moments, two more deputies would grab him, the four men would fall in a heap on the floor, and Saylor, who had been shouting and resisting their attempts to restrain him, would grow quiet and still.</div>
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More than two months after a man with Down syndrome died at the hands of three off-duty Frederick County sheriff’s deputies, these details about his death emerged in an autopsy report <a data-xslt="_http" href="http://apps.washingtonpost.com/g/documents/local/autopsy-report-for-robert-ethan-saylor/392/" style="color: black;"></a>released this week. The 11-page report, which offers the most comprehensive account yet on how the 26-year-old who went to see a movie <a data-xslt="_http" href="http://www.washingtonpost.com/local/md-man-with-down-syndrome-who-died-in-police-custody-loved-law-enforcement/2013/02/19/10e09fe0-7ad5-11e2-82e8-61a46c2cde3d_story.html" style="color: black;">ended up dead</a>, was made available Tuesday, the same day local and national advocacy groups met with the U.S. Department of Justice to discuss the need for better police training.</div>
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Saylor, who loved the TV show “NCIS” and was so fascinated with the police that he would sometimes call 911 just to ask a question, had been watching “Zero Dark Thirty” at a movie theater last month. As soon as it ended, he wanted to watch it again. When he refused to leave, a theater employee called three off-duty Frederick County sheriff’s deputies who were working a security job at the Westview Promenade shopping center and told them that Saylor either needed to buy another ticket or be removed. Saylor had gone to the movies with his aide, but a lawyer for Saylor’s family said she was getting the car when the confrontation started.</div>
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The autopsy report says that Saylor, who was 5-foot-6 and 294 pounds, had a “medical history of Down’s syndrome with ‘anger issues’ (especially when confronted or touched).”</div>
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When one of the deputies asked Saylor to leave, he started yelling and cursing, the report says. As the three deputies tried to restrain him and lead him from the theater, the four fell “on a slightly inclined ramp at the side of the theater” and, during the struggle, the deputies placed three sets of handcuffs on Saylor, it says.</div>
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“At some point while restrained and prone, he stopped struggling and was noticed to be unresponsive by the deputies,” the report says. “At some point they rolled him over and could not find a pulse, took the handcuffs off and started chest compressions.”</div>
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Saylor was later pronounced dead at a hospital. In February, the state Chief Medical Examiner’s Office in Baltimore ruled Saylor’s death a homicide as a result of asphyxia. Since then, the case has drawn national attention from parents of children with Down syndrome, and more than 1,000 angry messages fill the Facebook page of the Frederick County Sheriff’s Office. One simply reads: “Murderer.” Another: “I will no longer teach my children that the police are their ‘friends.’ ”</div>
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The sheriff’s department conducted a criminal investigation into the actions of the deputies — Lt. Scott Jewell, Sgt. Rich Rochford and Deputy 1st Class James Harris — and turned over the findings to the Frederick County state’s attorney’s office. On Friday, State’s Attorney J. Charles Smith said a grand jury convened, hearing testimony from the three detectives and reading 17 witness statements. It concluded that <a data-xslt="_http" href="http://www.washingtonpost.com/local/no-criminal-charges-in-death-of-robert-saylor-frederick-man-with-down-syndrome/2013/03/22/3a723b6c-932f-11e2-8ea1-956c94b6b5b9_story.html" style="color: black;">no criminal charges were warranted</a>.</div>
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As of Monday, the deputies, who had been placed on paid leave, were assigned to administrative duties pending the outcome of a separate internal investigation, a spokesman for the sheriff’s department said.</div>
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The autopsy report, which could not be released until the criminal investigation was closed, says Saylor “was already compromised by his Down’s syndrome, obesity, body habitus, and heart disease, making him more susceptible to sudden death in stressful conditions which would compromise his breathing.” It also details a series of cuts and bruises on Saylor’s body but does not discuss their origin. He had abrasions on his nose, back of the head, abdomen, back and left elbow. He also had bruising on his forehead.</div>
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“The bottom line for me is no matter what the mechanism of death was, they should have just walked away,” said Joseph Espo, an attorney for the Saylor family. “He wasn’t bothering anybody until they tried to do something.”</div>
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On Tuesday, four groups and representatives of the Saylor family met with the Justice Department for two hours. The discussion centered on the need for a training program for police departments across the country to “prevent another tragedy of this nature happening again in the future, in any town in the United States,” according to a news release from the National Down Syndrome Society on Wednesday.</div>
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“Ethan deserved to be a welcomed member of his community,” Sara Weir, a vice president with the organization, said in the release. “We join the rest of the Down syndrome community in their sadness and outrage as we act for positive change.”</div>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-29532447080799840992013-03-25T06:32:00.001-07:002013-03-25T06:32:28.428-07:00New research Molecular roots of Down SyndromeI am amazed and fascinated by all of the research and new developments in molecular and genetic medicine. I saw this new research and I hope these scientists are on the right track in understanding m why people with an extra 21st chromosome have mental disabilities. Even more exciting, the study shows potential therapies to increase brain function in people with this genetic abnormality.<br />
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Read this article and let me know your thoughts.........<br />
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Molecular Roots of Down Syndrome Unraveled</h1>
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<tr><td class="tr-caption" style="text-align: center;"><em style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 15px; text-align: left;">Neurons from a normal mouse (left) are longer and fuller than neurons from a mouse lacking SNX27 (right). (Credit: Image courtesy of Sanford-Burnham Medical Research Institute)<br /></em><div style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 15px; padding: 5px 0px; text-align: left;">
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<b><span class="date" style="color: #666666; font-size: small; font-style: italic; line-height: 19px;">Mar. 24, 2013</span><span style="font-size: small; line-height: 19px;"> — Researchers have discovered that the extra chromosome inherited in Down syndrome impairs learning and memory because it leads to low levels of SNX27 protein in the brain.</span></b></div>
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What is it about the extra chromosome inherited in Down syndrome -- chromosome 21 -- that alters brain and body development? Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have new evidence that points to a protein called sorting nexin 27, or SNX27. SNX27 production is inhibited by a molecule encoded on chromosome 21. The study, published March 24 in <em>Nature Medicine</em>, shows that SNX27 is reduced in human Down syndrome brains. The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function. What's more, the researchers showed that restoring SNX27 in Down syndrome mice improves cognitive function and behavior.</div>
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"In the brain, SNX27 keeps certain receptors on the cell surface -- receptors that are necessary for neurons to fire properly," said Huaxi Xu, Ph.D., professor in Sanford-Burnham's Del E. Webb Neuroscience, Aging and Stem Cell Research Center and senior author of the study. "So, in Down syndrome, we believe lack of SNX27 is at least partly to blame for developmental and cognitive defects."</div>
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<strong>SNX27's role in brain function</strong></div>
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Xu and colleagues started out working with mice that lack one copy of the snx27 gene. They noticed that the mice were mostly normal, but showed some significant defects in learning and memory. So the team dug deeper to determine why SNX27 would have that effect. They found that SNX27 helps keep glutamate receptors on the cell surface in neurons. Neurons need glutamate receptors in order to function correctly. With less SNX27, these mice had fewer active glutamate receptors and thus impaired learning and memory.</div>
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<strong>SNX27 levels are low in Down syndrome</strong></div>
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Then the team got thinking about Down syndrome. The SNX27-deficient mice shared some characteristics with Down syndrome, so they took a look at human brains with the condition. This confirmed the clinical significance of their laboratory findings -- humans with Down syndrome have significantly lower levels of SNX27.</div>
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Next, Xu and colleagues wondered how Down syndrome and low SNX27 are connected -- could the extra chromosome 21 encode something that affects SNX27 levels? They suspected microRNAs, small pieces of genetic material that don't code for protein, but instead influence the production of other genes. It turns out that chromosome 21 encodes one particular microRNA called miR-155. In human Down syndrome brains, the increase in miR-155 levels correlates almost perfectly with the decrease in SNX27.</div>
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Xu and his team concluded that, due to the extra chromosome 21 copy, the brains of people with Down syndrome produce extra miR-155, which by indirect means decreases SNX27 levels, in turn decreasing surface glutamate receptors. Through this mechanism, learning, memory, and behavior are impaired.</div>
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<strong>Restoring SNX27 function rescues Down syndrome mice</strong></div>
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If people with Down syndrome simply have too much miR-155 or not enough SNX27, could that be fixed? The team explored this possibility. They used a noninfectious virus as a delivery vehicle to introduce new human SNX27 in the brains of Down syndrome mice.</div>
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"Everything goes back to normal after SNX27 treatment. It's amazing -- first we see the glutamate receptors come back, then memory deficit is repaired in our Down syndrome mice," said Xin Wang, a graduate student in Xu's lab and first author of the study. "Gene therapy of this sort hasn't really panned out in humans, however. So we're now screening small molecules to look for some that might increase SNX27 production or function in the brain."</div>
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This research was funded by the U.S. National Institutes of Health (National Institute on Aging grants R01AG038710, R01AG021173, R01AG030197, R01AG044420; National Institute of Neurological Disorders and Stroke grants R01NS046673, P30NS076411; Eunice Kennedy Shriver National Institute of Child Health & Human Development grant P01HD29587; National Institute of Environmental Health Sciences grant P01ES016738), Alzheimer's Association, American Health Assistance Foundation, National Natural Science Foundation of China, 973 Prophase Project, Natural Science Funds for Distinguished Young Scholar of Fujian Province, Program for New Century Excellent Talents in Universities, Fundamental Research Funds for the Central Universities, and Fok Ying Tung Education Foundation.</div>
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The study was co-authored by Xin Wang, Sanford-Burnham; Yingjun Zhao, Sanford-Burnham and Xiamen University; Xiaofei Zhang, Sanford-Burnham; Hedieh Badie, Sanford-Burnham; Ying Zhou, Sanford-Burnham; Yangling Mu, Salk Institute; Li Shen Loo, Institute of Molecular and Cell Biology, Singapore; Lei Cai, Institute of Molecular and Cell Biology, Singapore; Robert C. Thompson, Sanford-Burnham; Bo Yang, Sanford-Burnham; Yaomin Chen, Sanford-Burnham; Peter F. Johnson, National Cancer Institute-Frederick; Chengbiao Wu, University of California, San Diego; Guojun Bu, Xiamen University; William C. Mobley, University of California, San Diego; Dongxian Zhang, Sanford-Burnham; Fred H. Gage, Salk Institute; Barbara Ranscht, Sanford-Burnham; Yun-wu Zhang, Sanford-Burnham and Xiamen University; Stuart A. Lipton, Sanford-Burnham and University of California, San Diego; Wanjin Hong, Institute of Molecular and Cell Biology, Singapore and Xiamen University; and Huaxi Xu, Sanford-Burnham and Xiamen University.</div>
<em style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 15px; text-align: left;"><br /></em><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 15px; text-align: left;">The above story is reprinted from </span><a href="http://beaker.sanfordburnham.org/2013/03/molecular-roots-down-syndrome/" style="background-color: white; color: #2d3793; font-family: Arial, Helvetica, sans-serif; line-height: 15px; text-align: left; text-decoration: none;" target="_blank">materials</a><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 15px; text-align: left;"> provided by</span><a class="blue" href="http://www.sanfordburnham.org/" style="background-color: white; color: #2e2f67; font-family: Arial, Helvetica, sans-serif; line-height: 15px; text-align: left; text-decoration: none;" target="_blank"><strong><span id="source">Sanford-Burnham Medical Research Institute</span></strong></a><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 15px; text-align: left;">.</span></td></tr>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-19736164803000355492013-03-23T07:32:00.000-07:002013-03-23T07:32:11.104-07:00Did you know? A Down Syndrome fact.Down Syndrome fact<br />
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Physical characteristics of Down Syndrome.<br />
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People born with Down Syndrome have some of the same physical characteristics. It is not understood why these physical characteristics occur.<br />
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<img alt="Down Syndrome" src="http://www.cdc.gov/ncbddd/birthdefects/images/Down_syndrome_lg.jpg" /></div>
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These characteristics include:<br />
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<li style="margin: 0.7em 0px 0.7em 1.5em; padding: 0px;">A flat face with an upward slant to the eye, a short neck, small ears, and a large tongue</li>
<li style="margin: 0.7em 0px 0.7em 1.5em; padding: 0px;">Tiny white spots on the iris (colored part) of the eye</li>
<li style="margin: 0.7em 0px 0.7em 1.5em; padding: 0px;">Small hands and feet</li>
<li style="margin: 0.7em 0px 0.7em 1.5em; padding: 0px;">A single crease across the palm of the hand</li>
<li style="margin: 0.7em 0px 0.7em 1.5em; padding: 0px;">Small pinky fingers that sometimes curve toward the thumb</li>
<li style="margin: 0.7em 0px 0.7em 1.5em; padding: 0px;">Poor muscle tone or loose ligaments</li>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-10950907864938979432013-03-21T06:12:00.001-07:002013-03-21T06:13:21.350-07:00World Down Syndrome Day 2013<div class="separator" style="clear: both; text-align: center;">
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-47160876385995704622013-03-20T06:27:00.000-07:002013-03-20T06:27:12.685-07:00Down Syndrome....... So what!Awareness. Advocating. Accepting. I love the message of the Jerome Lejeune Foundation is spreading for World Down Syndrome Day.<br />
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The Jerome Lejeune Foundation, USA Joins Advocacy Organizations Worldwide to Say: Down Syndrome - So What!</h1>
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March 21 is World Down Syndrome Day. The Jérôme Lejeune Foundation, USA is proud to join with disability advocacy associations from 11 nations in an international campaign to say together: Down Syndrome - So What! <a href="http://www.downsyndrome-sowhat.eu/" style="color: #07689b; outline: none; text-decoration: none;">http://www.downsyndrome-sowhat.eu</a></h2>
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Philadelphia, PA (PRWEB) March 20, 2013</div>
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The Jérôme Lejeune Foundation, USA is proud to join with disability advocacy associations from 11 nations (Spain, Portugal, Croatia, the United-Kingdom, Italy, Germany, Poland, Latvia France, Russia, and New Zealand) in an international campaign to say together:</div>
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<a href="http://www.downsyndrome-sowhat.eu/" style="color: #07689b; outline: none; text-decoration: none;" title="Down Syndrome - So What!">Down Syndrome… so what!</a></div>
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This week, on March 21st the 2nd official United Nations World Down Syndrome Day will be celebrated across the world. This event aims to raise public awareness about Down syndrome and promote the rights, inclusion and well being of people with Down syndrome in our communities.</div>
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With advanced methods of prenatal screening available now in the U.S., and soon coming to other countries, World Down Syndrome Day takes on a singular and urgent dimension. The expanded use of early (10 week) non-invasive prenatal tests for Down syndrome threatens to increase the already staggering number of terminations of pregnancies which are prenatally diagnosed. The expanded availability of these new maternal blood tests will almost certainly cause increased terminations, further stigmatization, and rejection of these valuable members of our communities.</div>
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Most countries still lack comprehensive health policies to ensure that families who receive an unexpected prenatal diagnosis of Down syndrome are provided with accurate information about positive therapeutic developments and outcomes for those living with Down syndrome. Additionally, efforts undertaken to facilitate integration of persons living with Down syndrome into educational systems and work places remains insufficient.</div>
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Parents, first and foremost, need to be provided with a positive and welcoming message when receiving a prenatal diagnosis of Down syndrome. As a society, we should support these families and encourage them to love, welcome, accept and raise a child with a disability with adequate support. Individuals living with Down syndrome and their families are entitled to the same dignity and respect afforded to any other members of society.</div>
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In this newly launched awareness campaign, five people of varying ages with Down syndrome representing diverse cultural and national backgrounds call for the attention of the public and their political representatives. Their goal is to lessen the fear of those in society who are uncomfortable with the disabled, especially those living with Down syndrome. Thanks to their beautiful, mischievous and joyful faces, they witness to all of us that happiness is indeed possible for themselves and their families.</div>
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On the 21st March, the Jérôme Lejeune Foundation, USA joins with advocacy organizations world-wide to proclaim the same urgent message: Down Syndrome… SO WHAT!</div>
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<a href="http://lejeuneusa.org/" style="color: #07689b; outline: none; text-decoration: none;">The Jérôme Lejeune Foundation</a> (Paris/U.S) was founded in 1996 and is the world’s largest private funder of Down Syndrome research, providing some $25 million worldwide. In 2010 alone the Foundation invested $4 million in research, and funded over 60 research projects which together are breaking new ground in both the understanding and management of Down Syndrome, Fragile X Syndrome, and other intellectual disabilities of genetic origin. The Foundation’s mission is based upon three closely joined pillars of activity: research, care, and advocacy, all carried out in a spirit of profound respect for the dignity of all human persons.</div>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com2tag:blogger.com,1999:blog-6680290614350120764.post-76333840613579067782013-03-16T07:07:00.002-07:002013-03-16T07:07:16.808-07:00Shame? Embarrassment? How about awareness?Awareness. <div>
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According to the Oxford Diction.</div>
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Definition of <b style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;">awareness</b></div>
<section class="senseGroup" style="background-color: white; border: 0px; box-sizing: content-box; color: #333333; font-family: Georgia, Palatino, 'Palatino Linotype', Times, 'Times New Roman', serif; font-size: 12px; line-height: 20.390625px; margin: 0px 0px 20px; padding: 0px;"><h3 class="partOfSpeech" style="border: 0px; box-sizing: content-box; font-style: italic; font-weight: normal; margin: 1em 5px 0px; padding: 0px;">
<span class="partOfSpeech" style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;">noun</span></h3>
<em style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;"><h:span class="neutral" style="border: 0px; box-sizing: content-box; font-style: normal; margin: 0px; padding: 0px;">[</h:span>mass noun<h:span class="neutral" style="border: 0px; box-sizing: content-box; font-style: normal; margin: 0px; padding: 0px;">]</h:span></em><ul class="sense-entry" style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;">
<li class="sense sense-type-core scrollerBlock" style="border: 0px; box-sizing: content-box; list-style: none; margin: -2px 0px 0px 15px; overflow: hidden; padding: 1px 6px 1px 1px !important; position: relative;"><div class="senseInnerWrapper" style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;">
<a href="" name="awareness__2" style="border: 0px; box-sizing: content-box; color: #1a63ab; cursor: pointer; margin: 0px; padding: 0px;"></a><span class="definition" style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;">knowledge or perception of a situation or fact:</span><span class="exampleGroup exGrBreak" style="border: 0px; box-sizing: content-box; display: block; margin: 0px; padding: 0px;"><em class="example" style="border: 0px; box-sizing: content-box; display: block; margin: 0px 0px 0.417em 22px; padding: 0px;">we need to raise public awareness of the issue</em></span><span class="exampleGroup exGrBreak" style="border: 0px; box-sizing: content-box; display: block; margin: 0px; padding: 0px;"><em class="example" style="border: 0px; box-sizing: content-box; display: block; margin: 0px 0px 0.417em 22px; padding: 0px;">there is a lack of awareness of the risks</em></span></div>
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<li class="subSense scrollerBlock" style="border: 0px; box-sizing: content-box; clear: both; list-style: disc; margin: -2px 0px 0px 60px; padding: 1px 6px 1px 1px;"><div class="senseInnerWrapper" style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;">
<a href="" name="awareness__5" style="border: 0px; box-sizing: content-box; color: #1a63ab; cursor: pointer; margin: 0px; padding: 0px;"></a><span class="definition" style="border: 0px; box-sizing: content-box; margin: 0px; padding: 0px;">concern about and well-informed interest in a particular situation or development:</span><span class="exampleGroup exGrBreak" style="border: 0px; box-sizing: content-box; display: block; margin: 0px; padding: 0px;"><em class="example" style="border: 0px; box-sizing: content-box; display: block; margin: 0px 0px 0.417em; padding: 0px; position: relative;">a growing environmental awareness</em></span><span class="exampleGroup exGrBreak" style="border: 0px; box-sizing: content-box; display: block; margin: 0px; padding: 0px;"><em class="example" style="border: 0px; box-sizing: content-box; display: block; margin: 0px 0px 0.417em; padding: 0px; position: relative;">his political awareness developed</em></span></div>
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World Down Syndrome Day is quickly approaching. March 21. </div>
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I enjoy reading about how people with Down Syndrome are viewed in other countries. This article caught my attention and it actually is kind of depressing. How do we change these views? How to we change perceptions? </div>
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from BBC news;</div>
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1 IN 400 CHILDREN BORN IN OMAN HAVE DOWN SYNDROME</h1>
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<div class="author" itemid="http://www.muscatdaily.com/Archive/Editors-Names/Shaddad-Al-Musalmy" itemprop="editor" itemscope="" itemtype="http://schema.org/Person" style="float: none; margin-right: 0.2em;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">By<span itemprop="name"> <a href="http://www.muscatdaily.com/Archive/Editors-Names/Shaddad-Al-Musalmy" style="color: black; text-decoration: none;">Shaddad Al Musalmy</a></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">March 16, 2013</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">In Oman, one child in every 400 has Down syndrome. Though these children can develop with proper support, families do not come forward with their condition because of embarrassment. Also, there is a need for more facilities in the country for bringing them to the mainstream.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">“There are over 500 children with Down syndrome in Oman but only 165 are registered with The Down’s Syndrome Parent Support Group (DSPSG) because many parents think it is a shame for them to come forward and talk about the condition of their children. One in every 400 children born has Down syndrome here but in developed countries the figure is 1/800 to 1/1,000,” Zuwaina al Barwani, co-chairperson of DSPSG, said.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">“Children with Down syndrome crave to be accepted just like their siblings, have unique personalities and are loving and affectionate. They must be accepted within the community. However, we need to make compromises so that their educational needs can be met in the classroom and for this we need proper facilities in Oman.”</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">According to Zuwaina, every year, the group joins the rest of the world to celebrate the Down syndrome event to seek community support and achieve dignity, equal rights and a better life for such children.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">“We will observe World Down Syndrome Day on March 21 with a wide range of activities at Muscat Grand Mall and we would like to encourage many organisations to observe this special day together with the community in order to create awareness in Oman about the condition and that these children are a part of us,” she said. The activities will include awareness lectures, games for children, henna, face painting and much more. “We don't only meet on the World Down Syndrome Day; 25-30 children with the condition meet every Saturday at the Association for Early Intervention Centre for Children with Special Needs, where parents discuss their child's development with a specialist,” Zuwaina said.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">Since the reorganisation of DSPSG in 2006 (it was founded in 2003), there has been an increase in the number of children attending the weekly sessions as parents have recognised the benefits of bringing their children to these sessions.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">The sessions involve providing specialist services such as physio and speech therapy and special need teacher-parent consultation. On what could be causing the increasing number of such cases, Zuwaina said, “Research was done but never completed. Researchers needed more time but they say the rise could be related to environment, air and water pollution,” she said.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: x-small;">DSPSG is the only group in Oman where the children receive specialist help and parents meet to exchange ideas and experiences. The group works under the umbrella of the Association for Early Intervention Centre for Children with Special Needs with Special Needs. However, it does not receive any financial support from the association.</span></div>
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Be gentle.</div>
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Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-83478138672253294502013-03-12T19:12:00.000-07:002013-03-12T19:12:05.945-07:00Exercise and cognition in people with Downs Syndrome? Is there a link?Interesting article. <br />
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Can Exercise Improve IQ In People With Down Syndrome?</h1>
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<span class="postDate" style="background-color: transparent; border: 0px; font-family: arial, helvetica, verdana, sans-serif; font-size: 11px; margin: 0px; outline: 0px; padding: 0px 0px 0px 2px; vertical-align: baseline;">March 7, 2013</span></div>
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The key to improving cognition in those with Down syndrome could be as simple as stepping onto a bike, researchers say.</div>
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Using a method called “assisted cycle therapy,” researchers at Arizona State University say they’re seeing improvement in those with Down syndrome. The approach involves rigorous exercise sessions on a specialized stationary bicycle, with a coach encouraging and monitoring the individual with Down syndrome throughout.</div>
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A small, pilot study two years ago found that adolescents with the chromosomal disorder were able to process information more quickly and had better manual dexterity even after just one therapy session. In contrast, voluntary exercise did not produce similar results, said Shannon Ringenbach, an associate professor of kinesiology at Arizona State who’s leading the research effort.</div>
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Now Ringenbach has a $150,000 federal grant to study the impact of assisted cycle therapy on people with Down syndrome more in-depth.</div>
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In an ongoing study, participants attend 30-minute workout sessions three times each week. Families members have indicated that they’ve noticed an increase in talking, interaction and improved mood among those currently participating in the research effort.</div>
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“It’s really remarkable that by doing this kind of exercise, they begin to think faster,” Ringenbach said of the study participants who she believes are developing new brain cells. “It has the potential to dramatically change the quality of their lives. With early intervention in children with Down syndrome, it’s possible it could improve their IQ.”</div>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com1tag:blogger.com,1999:blog-6680290614350120764.post-80504238639057678592013-03-11T07:32:00.001-07:002013-03-11T07:32:12.973-07:00March Madness Special Olympics Style returnsThis last weekend was March Madness at our house. It was the Special Olympics Northern California Basketball Tournament in Lodi. Our team played their hearts out. All smiles and fun times. The kids are already looking forward to next year! Next sports are track and field and swimming! See you there.<br />
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<tr><td class="tr-caption" style="text-align: center;">On our way to play!<br /></td></tr>
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<tr><td class="tr-caption" style="text-align: center;">warm up time with the bg kids</td></tr>
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<tr><td class="tr-caption" style="text-align: center;">Chris waiting to bring in the Olympic Torch</td></tr>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com1tag:blogger.com,1999:blog-6680290614350120764.post-24410801520049941352013-03-06T05:46:00.001-08:002013-03-06T05:46:47.833-08:00Let's end this today!Today is the day. Let's end the use of the <a href="http://www.r-word.org/" target="_blank">R-Word</a>. Together, we can do this.<br />
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com2tag:blogger.com,1999:blog-6680290614350120764.post-44058438770590860702013-03-04T06:26:00.001-08:002013-03-04T06:26:45.561-08:00Did you know? Down Syndrome factDown Syndrome Fact....... <br />
"What causes Down Syndrome?"<br />
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<h3 style="background-color: white; border: 0px; color: #2b2b2b; font-family: arial; font-size: 1.1em; margin: 1.4em 0px 0.4em; outline: 0px; padding: 0px;">
The Chromosomal Basis of Down Syndrome</h3>
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<span style="border: 0px; font-family: Times; font-style: inherit; margin: 0px; outline: 0px; padding: 0px;">To understand why Down syndrome occurs, the structure and function of the human chromosome must be understood. The human body is made of cells; all cells contain chromosomes, structures that transmit genetic information. Most cells of the human body contain 23 pairs of chromosomes, half of which are inherited from each parent. Only the human reproductive cells, the sperm cells in males and the ovum in females, have 23 <em style="border: 0px; font-family: inherit; margin: 0px; outline: 0px; padding: 0px;">individual</em> chromosomes, not pairs. Scientists identify these chromosome pairs as the XX pair, present in females, and the XY pair, present in males, and number them 1 through 22.</span></div>
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When the reproductive cells, the sperm and ovum, combine at fertilization, the fertilized egg that results contains 23 chromosome pairs. A fertilized egg that will develop into a <strong style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px;">female</strong> contains chromosome pairs 1 through 22, and the XX pair. A fertilized egg that will develop into a <strong style="border: 0px; font-family: inherit; font-style: inherit; margin: 0px; outline: 0px; padding: 0px;">male</strong> contains chromosome pairs 1 through 22, and the XY pair. When the fertilized egg contains extra material from chromosome number 21, this results in Down syndrome.</div>
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0tag:blogger.com,1999:blog-6680290614350120764.post-62241272797078535652013-03-02T05:23:00.000-08:002013-03-02T05:23:03.084-08:00What is Down Syndrome?<span style="background-color: #f3f3f3; font-family: 'Open Sans', Verdana, Geneva, sans-serif; font-size: 15px;">What Is Down Syndrome?</span><br />
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From the NDSS web site.<br />
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<img alt="" height="180" src="http://www.ndss.org/PageFiles/2588/What%20is%20Down%20Syndrome.jpg" style="border: 0px; float: left; margin: 14px 10px;" width="270" /></div>
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<span style="background-color: white;">In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.</span></div>
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<span style="background-color: white;">This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm - although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.</span></div>
<span style="background-color: white; color: #314250; font-family: 'Open Sans', Verdana, Geneva, sans-serif; font-size: 15px;">- See more at: http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/#sthash.69wjjjvu.dpu</span><span style="background-color: #002e5f; color: #314250; font-family: 'Open Sans', Verdana, Geneva, sans-serif; font-size: 15px;">f</span><br />
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Be gentle.Anonymoushttp://www.blogger.com/profile/17058970743241351812noreply@blogger.com0