{"id":24801,"date":"2019-06-21T23:25:45","date_gmt":"2019-06-21T23:25:45","guid":{"rendered":"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/"},"modified":"2019-08-28T16:10:45","modified_gmt":"2019-08-28T16:10:45","slug":"rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community","status":"publish","type":"post","link":"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/","title":{"rendered":"Rare disorders group meets in Houston to connect patients, caregivers and medical community"},"content":{"rendered":"<p>After her granddaughter was diagnosed with a rare genetic disorder, Deborah Skolaski assumed that her primary role as a grandmother would be to support Cori\u2019s parents in caregiving.<\/p>\n<p>But in expressing her research and organizing skills as an energy industry paralegal, the Missouri City resident has transformed into a powerful advocate for Texas patients and families managing uncommon illnesses.<\/p>\n<p>\u201cThe rare disease community needs a voice and I like to make a difference,\u201d said Skolaski, the lead Texas volunteer for the <a href=\"https:\/\/rarediseases.org\">National Organization for Rare Disorders (NORD)<\/a>.<\/p>\n<p>Based in Danbury, Connecticut, NORD lands in Houston this weekend for its annual <a href=\"https:\/\/rarediseases.org\/living-rare-event-details\/\">Living Rare, Living Stronger: NORD Patient and Family Forum<\/a>. The conference, from June 21 to June 23, connects patients and caregivers with medical professionals for a weekend of learning.<\/p>\n<p>The meeting also features an annual Rare Impact Awards ceremony to honor those who make extraordinary contributions to the lives of rare disease patients and caregivers. Houston-area <a href=\"https:\/\/rarediseases.org\/nord-announces-honorees-2019-rare-impact-awards\/\">honorees at this year\u2019s event<\/a>, scheduled for Saturday, June 22 at Space Center Houston, include <a href=\"https:\/\/rarediseases.org\/deborah-skolaski-2019-rare-impact-award-honoree\/\">Skolaski<\/a>, U.S. Representative Michael McCaul and State Representative Sarah Davis.<\/p>\n<p>NORD\u2019s national advisory board includes several clinicians and researchers from Baylor College of Medicine.<\/p>\n<p>Between 25 and 30 million people in the United States are living with rare diseases\u2014and more than half are children, according to NORD.<\/p>\n<p>Cori, who turns 8 this year, is one of them.<\/p>\n<div id=\"attachment_52133\" style=\"width: 778px\" class=\"wp-caption aligncenter\"><img decoding=\"async\" aria-describedby=\"caption-attachment-52133\" class=\"size-large wp-image-52133\" src=\"https:\/\/www.tmc.edu\/news\/wp-content\/uploads\/sites\/2\/2019\/08\/DebCori-768x1024.jpg\" alt=\"\" width=\"768\" height=\"1024\" \/><p id=\"caption-attachment-52133\" class=\"wp-caption-text\">Deborah Skolaski and her granddaughter, Cori Skolaski. (Photo courtesy of Deborah Skolaski)<\/p><\/div>\n<p>Shortly before her second birthday, Cori was diagnosed with metachromatic leukodystrophy, known as MLD, a rare, progressive, neurometabolic, genetic disorder.<\/p>\n<p>\u201cHer body doesn\u2019t make an enzyme that protects the central nervous system. There is no treatment or cure for it. It is very devastating,\u201d the 55-year-old said. \u201cShe has lived beyond expectations. We are pleased that she made it to 7, but she\u2019s totally paralyzed and blind.\u201d<\/p>\n<p>Skolaski became the <a href=\"https:\/\/twitter.com\/DeborahSkolaski\">NORD Rare Action Network Texas State Ambassador<\/a> in 2017.<\/p>\n<p>She laces up for half-marathons to raise money for NORD and MLD, and has run in the United States, New Zealand and South Africa.\u00a0She also creates awareness through a <a href=\"https:\/\/rareaction.org\/resources-for-advocates\/state-profiles\/texas\/\">state website<\/a> and <a href=\"https:\/\/www.instagram.com\/skolaskirunning4rare\/\">social media<\/a>, organizes Rare Disease Day events each February and has worked on improving state policy for step therapy reform, Medicaid coverage gaps and newborn screening for rare diseases.<\/p>\n<p>Skolaski has dedicated herself to NORD since 2015, to honor Cori.<\/p>\n<p>\u201cShe is my reason,\u201d the proud grandmother said. \u201cIt\u2019s been a very rewarding and enriching experience. I am inspired every day by these rare disease patients that I meet. They just get up and face the day with a smile\u2014even with the worst pain.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>After her granddaughter was diagnosed with a rare genetic disorder, Deborah Skolaski assumed that her primary role as a grandmother would be to support Cori\u2019s parents in caregiving. But in expressing her research and organizing skills as an energy industry paralegal, the Missouri City resident has transformed into a powerful advocate for Texas patients and [&hellip;]<\/p>\n","protected":false},"author":28,"featured_media":24806,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[1],"tags":[3832,3831,3830,3827,3828,1308,3829],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.5 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Rare disorders group meets in Houston to connect patients, caregivers and medical community - TMC News<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rare disorders group meets in Houston to connect patients, caregivers and medical community - TMC News\" \/>\n<meta property=\"og:description\" content=\"After her granddaughter was diagnosed with a rare genetic disorder, Deborah Skolaski assumed that her primary role as a grandmother would be to support Cori\u2019s parents in caregiving. But in expressing her research and organizing skills as an energy industry paralegal, the Missouri City resident has transformed into a powerful advocate for Texas patients and [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/\" \/>\n<meta property=\"og:site_name\" content=\"TMC News\" \/>\n<meta property=\"article:published_time\" content=\"2019-06-21T23:25:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2019-08-28T16:10:45+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.tmc.edu\/news\/wp-content\/uploads\/sites\/2\/2019\/08\/Deborah.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2750\" \/>\n\t<meta property=\"og:image:height\" content=\"2125\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Cindy George\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Cindy George\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/\"},\"author\":{\"name\":\"Cindy George\",\"@id\":\"https:\/\/www.tmc.edu\/news\/#\/schema\/person\/fc1e2ff5366fa93667a13f9b7f7a97ec\"},\"headline\":\"Rare disorders group meets in Houston to connect patients, caregivers and medical community\",\"datePublished\":\"2019-06-21T23:25:45+00:00\",\"dateModified\":\"2019-08-28T16:10:45+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/\"},\"wordCount\":456,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\/\/www.tmc.edu\/news\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.tmc.edu\/news\/wp-content\/uploads\/sites\/2\/2019\/08\/Deborah.jpg\",\"keywords\":[\"Deborah Skolaski\",\"metachromatic leukodystrophy\",\"MLD\",\"National Organization for Rare Disorders\",\"NORD\",\"rare diseases\",\"rare disorders\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/\",\"url\":\"https:\/\/www.tmc.edu\/news\/2019\/06\/rare-disorders-group-meets-in-houston-to-connect-patients-caregivers-and-medical-community\/\",\"name\":\"Rare disorders group meets in Houston to connect patients, caregivers and medical community - 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