define('DISABLE_WP_CRON', true);{"id":4338,"date":"2012-06-12T23:15:27","date_gmt":"2012-06-12T13:15:27","guid":{"rendered":"http:\/\/sh1ft.org\/blog\/?page_id=4338"},"modified":"2020-10-07T13:58:21","modified_gmt":"2020-10-07T02:58:21","slug":"our-rett-syndrome-story","status":"publish","type":"page","link":"http:\/\/sh1ft.org\/blog\/our-rett-syndrome-story\/","title":{"rendered":"Our Rett Syndrome Story"},"content":{"rendered":"<p><em>Working on rewriting this page soon &#8230;<\/em><\/p>\n<p><strong>Our Rett Syndrome Story<\/strong><\/p>\n<p>In early September 2011, my 27 month old daughter Jovie was <a href=\"http:\/\/sh1ft.org\/blog\/?p=3481\">diagnosed with Autism and a developmental delay<\/a>. She was also tested for Fragile X and Rett Syndrome. We knew for at least a year that something was maybe not quite right with her development but thought she would catch up eventually. Fragile X was ruled out within a few weeks.<\/p>\n<p>On the 7th of June 2012, <a href=\"http:\/\/sh1ft.org\/blog\/?p=4305\">we received the results of her DNA test<\/a> &#8211; <b>Jovie has Rett Syndrome<\/b>.<\/p>\n<p>Our first video about Jovie &amp; Autism has been posted <a href=\"http:\/\/sh1ft.org\/blog\/?p=3570\">here<\/a>.<\/p>\n<p>Our video for World Autism Awareness Day 2012 was posted <a href=\"http:\/\/sh1ft.org\/blog\/?p=4140\">here<\/a>.<\/p>\n<p>Here is a quick video to show how Jovie&#8217;s doing (July 2012) &#8211;<br \/><iframe loading=\"lazy\" src=\"http:\/\/player.vimeo.com\/video\/43944851?title=0&amp;byline=0&amp;portrait=0\" allowfullscreen=\"allowfullscreen\" width=\"480\" height=\"270\" frameborder=\"0\"><\/iframe><\/p>\n<p>A video of Jovie and Rett Syndrome in time for Rett Syndrome Awareness Month, October 2012.<\/p>\n<p><iframe loading=\"lazy\" src=\"http:\/\/player.vimeo.com\/video\/50753972?title=0&amp;byline=0&amp;portrait=0&amp;color=ff0179\" allowfullscreen=\"allowfullscreen\" width=\"480\" height=\"270\" frameborder=\"0\"><\/iframe><\/p>\n<p>Rett Syndrome Awareness 2018<\/p>\n<p><iframe loading=\"lazy\" src=\"https:\/\/www.youtube.com\/embed\/LO459v_x_4Y\" allowfullscreen=\"allowfullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe><\/p>\n<p><a href=\"https:\/\/anchor.fm\/remarkablepodcast\">Remarkable: Life with Rett Syndrome<\/a> for Rett Syndrome Awareness 2019<\/p>\n<p><iframe loading=\"lazy\" src=\"https:\/\/www.youtube.com\/embed\/qsrRh5K406o\" allowfullscreen=\"allowfullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe><\/p>\n<p>You can listen to Remarkable by visit <a href=\"http:\/\/anchor.fm\/remarkablepodcast\">http:\/\/anchor.fm\/remarkablepodcast<\/a> or searching for Remarkable wherever you listen to your favourite podcasts \ud83d\ude42 Available on Apple Podcasts, Spotify, and more!<\/p>\n\n<p>Remarkable: Life with Rett Syndrome (2020) is a 4 part YouTube series featuring 9 Rett Syndrome families <\/p>\n<p> <iframe loading=\"lazy\" src=\"https:\/\/www.youtube.com\/embed\/videoseries?list=PLKBXsvJJkkL6nTTxKomT0WOHuPsfh_MS4\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture\" allowfullscreen=\"\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe> <\/p>\n\n\n<p><a href=\"http:\/\/teamjovie.com\/\">TeamJovie.com<\/a> has been set up to pull together our awareness and fundraising events and campaigns.<\/p>\n<p><a href=\"http:\/\/rouse-hill-times.whereilive.com.au\/news\/story\/help-jovie-overcome-rett-sydrome\/\">We were featured in the Rouse Hill Times paper&#8217;s website on September 19, 2012. <\/a><\/p>\n<p>&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8211;<\/p>\n<p><strong>What is Rett Syndrome?<\/strong><br \/><em>Info from <a href=\"http:\/\/www.rettsyndrome.org\/content\/blogcategory\/17\/1105\/\">rettsyndrome.org<\/a>. <u>I&#8217;ve underlined<\/u> the things Jovie does currently to get an indication of what we deal with everyday.<\/em><br \/>Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can also be seen in boys.<\/p>\n<p>Please <a href=\"http:\/\/teamjovie.com\/males-with-rett-syndrome\/\">click here to read about males &amp; boys with Rett Syndrome<\/a>.<\/p>\n<p>Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2.<\/p>\n<p>Rett syndrome is a developmental disorder. It is not a degenerative disorder.<\/p>\n<p>Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include <u>learning<\/u>, <u>speech<\/u>, <u>sensory sensations<\/u>, <u>mood<\/u>, <u>movement<\/u>, <u>breathing<\/u>, <u>cardiac function<\/u>, and even <u>chewing<\/u>, <u>swallowing<\/u>, and <u>digestion<\/u>.<\/p>\n<p>Rett syndrome symptoms appear after <u>an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills<\/u>. A period of regression then follows when she <u>loses communication skills<\/u> and <u>purposeful use of her hands<\/u>. Soon, stereotyped hand movements such as <u>handwashing<\/u>, <u>gait disturbances<\/u>, and <u>slowing of the normal rate of head growth<\/u> become apparent. Other problems may include <u>seizures<\/u> and <u>disorganized breathing patterns<\/u>, including <u>hyperventilation<\/u>, <u>air swallowing<\/u> and <u>breath holding<\/u>, while she is awake. Some children never learn how to sit up, crawl, walk or run. In the early years, there may be a period of isolation or withdrawal when she is <u>irritable and cries inconsolably<\/u>. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.<\/p>\n<p>One of the biggest challenges for some girls is <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmedhealth\/PMH0004944\/\">Apraxia<\/a> &#8211; which can effect their whole body (from <u>speech<\/u>, <u>use of legs<\/u>, <u>feet<\/u>, <u>arms<\/u>, <u>hands<\/u>, head and even <u>eyes<\/u>). Apraxia is the most fundamental and severely handicapping aspect of Rett Syndrome.<\/p>\n<p>Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.<\/p>\n<p>Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond.<\/p>\n<p>If I could sum up what Rett Syndrome means for Jovie &#8211; it&#8217;s like being trapped in a body that just doesn&#8217;t work. Jovie is a smart, funny and clever young lady, she just needs extra help to grow and communicate with the world.<\/p>\n<p>There is no cure for Rett Syndrome, but <a href=\"http:\/\/www.rsrt.org\/about-rsrt\/press-releases\/bone-marrow-transplant-arrests-symptoms-in-model-of-rett-syndrome\/\">they are currently working on it!<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Working on rewriting this page soon &#8230; Our Rett Syndrome Story In early September 2011, my 27 month old daughter Jovie was diagnosed with Autism and a developmental delay. She was also tested for Fragile X and Rett Syndrome. We knew for at least a year that something was maybe not quite right with her [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":2,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-4338","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/pages\/4338","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/comments?post=4338"}],"version-history":[{"count":28,"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/pages\/4338\/revisions"}],"predecessor-version":[{"id":5070,"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/pages\/4338\/revisions\/5070"}],"wp:attachment":[{"href":"http:\/\/sh1ft.org\/blog\/wp-json\/wp\/v2\/media?parent=4338"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}