{"id":15226,"date":"2024-02-21T07:00:00","date_gmt":"2024-02-21T12:00:00","guid":{"rendered":"https:\/\/www.ptcbio.com\/?p=15226"},"modified":"2024-02-20T12:20:20","modified_gmt":"2024-02-20T17:20:20","slug":"in-it-together-rare-disease-day-2024","status":"publish","type":"post","link":"https:\/\/www.ptcbio.com\/posts\/in-it-together-rare-disease-day-2024\/","title":{"rendered":"In it Together: Rare Disease Day 2024"},"content":{"rendered":"\n<p class=\"core-block core-paragraph\">Rare Disease Day, which takes place every year on the last day of February, is a global movement aimed at raising awareness of the 7,000+ rare diseases and more than 300 million people worldwide who live with a rare disease.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">With our deep experience in the rare disease space for more than 25 years and commitment to two key therapeutic areas &#8211; neurology and metabolic disorders &#8211; we\u2019re proud to support the rare disease community on Rare Disease Day and every day, because at PTC, we\u2019re in it together.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">\u201cWe strive to ensure the patient\u2019s voice is incorporated in all aspects of drug development,\u201d says Frank Quintieri, VP, Patient Relations, North America. \u201cWe connect with rare disease communities early in our developmental processes and throughout commercialization, collaborate on shared educational opportunities and connect community members to resources that can help them in times of need.\u201d<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">For example, the U.S. Patient Engagement (PE) team provides resources and support to patients and their families throughout their rare disease journey through collaboration, compassion and partnership. These resources, made available through the <a href=\"https:\/\/www.ptcbio.com\/insightful-moments\/?_insightful-moment-category=discovering-wellness&amp;_language=english\">Insightful Moments<\/a> initiative, aim to help support patients and their families \u2013 whether they are just starting on their rare disease journey or already well into it. New resources, a part of the \u201c<a href=\"https:\/\/www.ptcbio.com\/insightful-moments\/\">Discovering Wellness<\/a>\u201d series, were recently released this month.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">To help the Spanish-speaking rare disease community in the U.S., PTC offers educational materials in Spanish through the <a href=\"https:\/\/www.ptcbio.com\/momentos-de-claridad\/\">Momentos de Claridad<\/a> platform. <a href=\"https:\/\/www.ptcbio.com\/2023\/11\/01\/supporting-the-spanish-speaking-community\/\">Read more about the U.S. PE team\u2019s support of the Spanish-speaking rare disease community here<\/a>.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Our PE team for Europe, the Middle East and Africa (EMEA) engages and collaborates with more than 100 patient advocacy organizations (PAOs) across 45+ countries and a diverse range of cultures.<\/p>\n\n\n\n<div  class=\"quote-block  color-theme--white\">\n\n\t\n\t<div class=\"quote-block__content\">\n\t\t<blockquote class=\"quote-block__text color-theme-border--white\">\n\t\t\t<div class=\"quote-block__heading heading--4\">\n\t\t\t\tIt\u2019s a privilege to work so closely with the rare disease community. Through our work, we can create opportunities that contribute to making a positive difference for people living with rare disease and their families.\t\t\t<\/div>\n\t\t<\/blockquote>\n\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--name\">\n\t\t\t\tSian O\u2019 Neill\t\t\t<\/cite>\n\t\t\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--title\">\n\t\t\t\tSenior Director, Patient Engagement EMEA\t\t\t<\/cite>\n\t\t\t<\/div>\n\n<\/div>\n\n\n\n\n<p class=\"core-block core-paragraph\">In Latin America (also referred to as LATAM), the PE team manages relationships with more than 70 associations and works on many training, awareness and engagement projects. LATAM is a vast region with almost 600 million people \u2013 and therefore, many people there are impacted by rare diseases.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">\u201cIn a country of continental proportions like Brazil, we face challenges to ensure that knowledge about rare diseases goes beyond the big cities and reaches smaller towns and municipalities far from the capital. This work requires us to be flexible, agile and daring,\u201d says Jos\u00e9 Anchieta, Senior Manager of Government Relations and Patient Support at PTC in Brazil.<\/p>\n\n\n\n<div  class=\"quote-block  color-theme--white\">\n\n\t\n\t<div class=\"quote-block__content\">\n\t\t<blockquote class=\"quote-block__text color-theme-border--white\">\n\t\t\t<div class=\"quote-block__heading heading--4\">\n\t\t\t\tWith great determination, we map cities, identify needs and opportunities to improve the lives of those living with rare diseases. We&#039;re in the big urban centers and the tiny ones. We involve public authorities, discuss public policies, train and guide health professionals. In other words, we promote effective changes in the lives of people in these communities.\t\t\t<\/div>\n\t\t<\/blockquote>\n\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--name\">\n\t\t\t\tJos\u00e9 Anchieta\t\t\t<\/cite>\n\t\t\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--title\">\n\t\t\t\tSenior Manager of Government Relations and Patient Support, PTC Brazil\t\t\t<\/cite>\n\t\t\t<\/div>\n\n<\/div>\n\n\n\n\n<p class=\"core-block core-paragraph\">It is the dedication and commitment to the rare disease community that sets the PE team apart. &nbsp;<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">\u201cPTC\u2019s PE team is made up of individuals who have many unique traits, but above all else, they are driven to help people,\u201d says Frank. \u201cThe team works with many people in the rare disease community, and we are most proud when we can help to make connections that benefit those in need.\u201d<\/p>\n\n\n\n<div  class=\"quote-block  color-theme--white\">\n\n\t\n\t<div class=\"quote-block__content\">\n\t\t<blockquote class=\"quote-block__text color-theme-border--white\">\n\t\t\t<div class=\"quote-block__heading heading--4\">\n\t\t\t\tMy favorite part about working with the rare disease community is the opportunity to get to know many amazing people who, when faced with adversity, have chosen to rise up to find the good in life and their journey.\t\t\t<\/div>\n\t\t<\/blockquote>\n\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--name\">\n\t\t\t\tFrank Quintieri\t\t\t<\/cite>\n\t\t\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--title\">\n\t\t\t\tVP, Patient Relations, North America\t\t\t<\/cite>\n\t\t\t<\/div>\n\n<\/div>\n\n\n\n\n<p class=\"core-block core-paragraph\">Stephania Cuellar, Senior Specialist Patient Relations for SAM Region, agrees. \u201cI believe that day by day it is the patients, their stories of overcoming and strength that have transformed my life,\u201d she says. \u201cWords are not enough to say how grateful I am to work on behalf of patients with rare diseases, and to see that our work makes a genuine contribution. In my experience, I have realized the positive impact we have on patients and their families: from the moment they receive their diagnosis, they face difficult moments (fear, loneliness, guilt), and we become a support network that allows them to face this diagnosis and their life with less difficulty.&#8221;<\/p>\n\n\n\n<p class=\"core-block core-paragraph\"><a href=\"https:\/\/www.ptcbio.com\/patients-caregivers-resources\/\">Learn more about our Patient Engagement team<\/a> <\/p>\n","protected":false},"excerpt":{"rendered":"<p>Rare Disease Day, which takes place every year on the last day of February, is a global movement aimed at raising awareness of the 7,000+ rare diseases and more than 300 million people worldwide who live with a rare disease. With our deep experience in the rare disease space for more than 25 years and&hellip;<\/p>\n","protected":false},"author":2,"featured_media":15229,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[19],"tags":[],"media-type":[5],"therapeutic-area":[18,21,29,23,13,16,25],"class_list":["post-15226","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-disease-community"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.5 (Yoast SEO v27.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>In it Together: Rare Disease Day 2024 - PTC Therapeutics (United States)<\/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.ptcbio.com\/posts\/in-it-together-rare-disease-day-2024\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"In it Together: Rare Disease Day 2024\" \/>\n<meta property=\"og:description\" content=\"Rare Disease Day, which takes place every year on the last day of February, is a global movement aimed at raising awareness of the 7,000+ rare diseases and more than 300 million people worldwide who live with a rare disease. 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