{"id":495,"date":"2017-03-06T15:40:40","date_gmt":"2017-03-06T23:40:40","guid":{"rendered":"http:\/\/blogs.ufv.ca\/english\/?p=495"},"modified":"2017-03-06T20:22:52","modified_gmt":"2017-03-07T04:22:52","slug":"every-day-english-world-rare-disease-day","status":"publish","type":"post","link":"https:\/\/blogs.ufv.ca\/english\/2017\/03\/06\/every-day-english-world-rare-disease-day\/","title":{"rendered":"Every Day English–World Rare Disease Day"},"content":{"rendered":"

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Student guest post by Jessica Milliken<\/p>\n

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Unless you are deep in the savanna or at the Greater Vancouver zoo, zebras are hard to come by. But I bet you see a zebra more often than you realize.<\/p>\n

In the late 1940s, Dr. Theodore Woodward told his med students, \u201cwhen you hear hoofbeats, think of horses not zebras.\u201d\u00a0 Those with rare diseases or genetic syndromes are the zebras.<\/p>\n

Since 2008, at the end of February thousands of people around the world celebrate those of us with conditions that make us one-of-a-kind. This year, World Rare Disease Day was celebrated on the 28th.<\/p>\n

Over 80 counties celebrate WRDD, and those in the rare disease\/genes communities host events such as walks, runs, lectures and the sharing of stories for each other and the general public. There are over 7000 rare diseases with no cures or prevention. 80% are genetic in origin, which means it\u2019s simply in our genes.<\/p>\n

Rare Disease Day has always been important to my family: both my niece and I were born with rare diseases (Noonan Syndrome and Blepharophimisis, Ptosis, and Epicanthus Inverses Syndrome, respectively). But this year was extra cool because I was reading and studying a book about a little boy with his own rare disease\u2014Auggie Pullman in Wonder<\/em>.<\/p>\n

I was introduced to this book through my research assistant position with Dr. Michelle Superle\u2019s Read for Your Rights! Program. The project is investigating if a rights-based literacy program can help reduce classroom bullying. A Grade Five class is studying Wonder<\/em> in accordance with the UNCRC, and Michelle and I are observing their responses.<\/p>\n

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Wonder<\/em> was written by R.J. Palacio and was published by Alfred A. Knopf in 2012. It follows the story of ten-year old Auggie, who has Treacher Collins syndrome and a cleft palate, going to public school for the first time. TCS causes severe facial abnormalities and in the first chapter Auggie says, \u201cI won\u2019t describe what I look like. Whatever you\u2019re thinking it\u2019s probably worse.\u201d<\/p>\n

While the book is full of lessons and love as Auggie navigates middle school, homework, new friends, and the ever-present bullies, it\u2019s also a story of being ordinary, in the best way. While each character is extraordinary in their own ways, they all are just kids. They are learning who they are, what it means to be accepting, how to handle middle school, how to solve problems and how they want and like to live. They are all ordinary kids.<\/p>\n

Whether your genes are perfect or not, we are all just looking for friends and acceptance, and an understanding of the universe we live in. We are extraordinary, and ordinary all at once.<\/p>\n

Near the end of the novel, Miranda (Auggie\u2019s sister\u2019s old friend, who has pink hair) says to Justin (Auggie\u2019s sister\u2019s boyfriend) \u201cthe universe was not kind to auggie pullman.\u201d This brings the most beautiful moment in the novel when Justin tries to reason out that statement,<\/p>\n

if it really was all random, the universe would abandon us complete. and the universe doesn\u2019t. it takes care of its most fragile creations in ways we can\u2019t see. like parents who adore you blindly, and a big sister who feels guilty for being human over you, and a little gravelly-voiced kid whose friends have left him over you. and even a pink-haired girl who carries your picture in her wallet. maybe it is a lottery, but the universe makes it all even out in the end. the universe takes care of all its birds.<\/p><\/blockquote>\n

While BPES has not affected me to the extent that TCS affects Auggie, we share one similar surgery-type. For Auggie, doctors used bone from his hip to restructure and create his jaw, for me, they took muscle from my leg and put it into my eyes to open them.<\/p>\n

Without research and the sharing of knowledge, these procedures couldn\u2019t happen. Which is what makes social media and WRDD so cool. We can find communities and people all over the world who have what we have. I found a whole group of children, teenagers, and adults, who look like me.<\/p>\n

On World Rare Disease Day we celebrate the Zebras.<\/p>\n

It\u2019s a weird concept to grapple with and I am still circling it over. I am different, and rare, but also just like everyone else. I\u2019ve never seen a book portraying someone like me. Someone different in a genetic way, but also someone ordinary. Yes, Auggie\u2019s TCOF13 gene is mutated, and so is my FOXL25 gene, and my niece\u2019s PTPN114, but at one point, we\u2019re all just kids wishing someone would play with us at recess.<\/p>\n

Some stats:<\/p>\n

-There are over 7,000 known rare diseases.<\/p>\n

– In the United States, a condition is considered \u201crare\u201d it affects fewer than 200,000 persons combined in a particular rare disease group.<\/p>\n

-A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.<\/p>\n

-80% of rare diseases are genetic based.<\/p>\n

-50% of those with a rare disease are children.<\/p>\n

-30% of those with a rare disease do not see their 5th birthday.<\/p>\n

– According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment.<\/p>\n

– Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.<\/p>\n

-1 in 50,000 have TCS3.<\/p>\n

-1 in 1,000-2,500 have Noonan\u2019s.<\/p>\n

-The prevalence of BPES is unknown.<\/p>\n

Sources and more information<\/p>\n

World Rare Disease Day: 1https:\/\/globalgenes.org,\u00a0 2http:\/\/www.rarediseaseday.org<\/p>\n

Treacher Collins Syndrome: 3https:\/\/ghr.nlm.nih.gov\/condition\/treacher-collins-syndrome<\/p>\n

Noonan Syndrome: 4https:\/\/ghr.nlm.nih.gov\/condition\/noonan-syndrome, http:\/\/www.teamnoonan.org<\/p>\n

BPES: 5https:\/\/ghr.nlm.nih.gov\/condition\/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome<\/p>\n

Wonder, R.J. Palacio: 6http:\/\/www.lakewoodcityschools.org\/userfiles\/2658\/Wonder%20-%20comp%203_8%20-%20audiopdf.pdf<\/p>\n

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  Student guest post by Jessica Milliken Unless you are deep in the savanna or at the Greater Vancouver zoo, zebras are hard to come by. But I bet you see a zebra more often than you realize. In the late 1940s, Dr. Theodore Woodward told his med students, \u201cwhen you hear hoofbeats, think of […]<\/p>\n","protected":false},"author":107,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-495","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/posts\/495","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/users\/107"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/comments?post=495"}],"version-history":[{"count":3,"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/posts\/495\/revisions"}],"predecessor-version":[{"id":500,"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/posts\/495\/revisions\/500"}],"wp:attachment":[{"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/media?parent=495"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/categories?post=495"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.ufv.ca\/english\/wp-json\/wp\/v2\/tags?post=495"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}