{"id":8105,"date":"2023-02-23T10:54:21","date_gmt":"2023-02-23T10:54:21","guid":{"rendered":"https:\/\/www.healthnews.ie\/?p=8105"},"modified":"2023-02-28T08:36:07","modified_gmt":"2023-02-28T08:36:07","slug":"changing-the-narrative-for-people-living-with-a-rare-disease","status":"publish","type":"post","link":"https:\/\/www.healthnews.ie\/rare-diseases\/changing-the-narrative-for-people-living-with-a-rare-disease\/","title":{"rendered":"Changing the narrative for people living with a rare disease"},"content":{"rendered":"\n<div style=\"background-color:#f2f2f2;color:#32373c\" class=\"wp-block-atomic-blocks-ab-profile-box round ab-has-avatar ab-font-size-14 ab-block-profile ab-profile-columns\"><div class=\"ab-profile-column ab-profile-avatar-wrap\"><div class=\"ab-profile-image-wrap\"><figure class=\"ab-profile-image-square\"><img loading=\"lazy\" decoding=\"async\" width=\"250\" height=\"250\" class=\"ab-profile-avatar wp-image-8107\" src=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210450\/New_LinkedIn_Pic-Cameron-Fox.png\" alt=\"\" srcset=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210450\/New_LinkedIn_Pic-Cameron-Fox.png 250w, https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210450\/New_LinkedIn_Pic-Cameron-Fox-125x125.png 125w\" sizes=\"auto, (max-width: 250px) 100vw, 250px\" \/><\/figure><\/div><\/div><div class=\"ab-profile-column ab-profile-content-wrap\"><h2 class=\"ab-profile-name\" style=\"color:#32373c\">Cameron Fox<\/h2><p class=\"ab-profile-title\" style=\"color:#32373c\">Health Innovation Lead, Shaping the Future of Health and Healthcare, World Economic Forum<\/p><div class=\"ab-profile-text\"><\/div><ul class=\"ab-social-links\"><\/ul><\/div><\/div>\n\n\n\n<p><em>Have you ever heard of Aarskog Syndrome? How about Abetalipoproteinemia? Probably not. As with all rare diseases, they occur in less than 0.05% of the world population.<\/em><\/p>\n\n\n\n<hr class=\"wp-block-separator\"\/>\n\n\n\n<p>If we add up the total prevalence for all rare diseases, a very different picture emerges. Globally, an estimated <a href=\"https:\/\/blogs.cdc.gov\/genomics\/2019\/04\/04\/introducing-the-rare-diseases\/\" target=\"_blank\" rel=\"noreferrer noopener\">400-475 million people<\/a> live with a rare disease, most of whom will never be diagnosed.<\/p>\n\n\n\n<p>This lack of attention brings with it a range of unique challenges that deeply impact the lives of millions of patients across the world.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Unique challenges<\/strong><\/h2>\n\n\n\n<p>For people living with rare diseases, the first hurdle is finding a proper diagnosis. There are over 7,000 rare diseases recognised, so the odds a doctor has seen a particular set of symptoms are slim.<\/p>\n\n\n\n<p>Moreover, health data is often siloed, which can prevent medical professionals from accessing the information they need in time. Because of this, diagnoses take <a href=\"http:\/\/chrome-extension:\/\/efaidnbmnnnibpcajpcglclefindmkaj\/https:\/globalgenes.org\/wp-content\/uploads\/2015\/12\/2016-WRDD-Fact-Sheet.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">seven years<\/a> on average in the United States and much longer in less developed nations.<\/p>\n\n\n\n<p>Unfortunately, identifying the problem is only the start. Just as diagnosis is difficult, so is treatment, as there is little monetary incentive for developing drugs for such a small patient pool. As a result, more than <a href=\"http:\/\/chrome-extension:\/\/efaidnbmnnnibpcajpcglclefindmkaj\/https:\/globalgenes.org\/wp-content\/uploads\/2015\/12\/2016-WRDD-Fact-Sheet.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">95% of rare diseases do not have an available treatment<\/a>.<\/p>\n\n\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3932940\/\" target=\"_blank\" rel=\"noreferrer noopener\">Since an estimated 50-75% of rare diseases begin in childhood<\/a>, this lack of treatment options is a key driver of mortality among children. In fact, one-third of children with a rare disease <a href=\"https:\/\/www.gov.uk\/government\/publications\/england-rare-diseases-action-plan-2022\/england-rare-diseases-action-plan-2022\" target=\"_blank\" rel=\"noreferrer noopener\">die before their fifth birthday<\/a>.<\/p>\n\n\n\n<p>Rare diseases put a huge burden on health systems <a href=\"https:\/\/www.geneticalliance.org.uk\/media\/2502\/hidden-costs-full-report_21916-v2-1.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">\u2013 according to one estimate<\/a>, rare disease treatment made up 10% of the UK\u2019s NHS total spending in 2016. In addition, individuals living with rare diseases often face stigmatisation due to the public\u2019s lack of understanding, and this marginalisation is a key driver of growing health inequities globally.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p>More than 95% of rare diseases do not have an available treatment.<\/p><\/blockquote>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-positive-advances\"><strong>Positive advances<\/strong><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.ga4gh.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Collaborative research networks<\/a> are improving data and resource sharing, and development of common standards and protocols is reducing the average time to a diagnosis. Advances in <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5815091\/\" target=\"_blank\" rel=\"noreferrer noopener\">genomics and precision medicine<\/a> are enabling researchers to better understand the underlying causes of many rare diseases and to develop targeted therapies.<\/p>\n\n\n\n<p>Notable efforts are also being made when it comes to financing rare disease treatment. Research on \u2018<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK572052\/\" target=\"_blank\" rel=\"noreferrer noopener\">orphan drugs<\/a>\u2019 \u2014 which would not be profitable to produce without government assistance \u2014 are now subsidised in jurisdictions including the US, EU and Japan. Work is also ongoing to understand how <a href=\"https:\/\/www.weforum.org\/whitepapers\/accelerating-global-access-to-gene-therapies-case-studies-from-low-and-middle-income-countries\/\" target=\"_blank\" rel=\"noreferrer noopener\">novel gene therapies<\/a> can be delivered to people everywhere at affordable prices.<\/p>\n\n\n\n<p>Patient advocates are increasingly making their <a href=\"https:\/\/www.eurordis.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">voices heard<\/a> \u2014 both as participants in clinical trials and as partners in the research process \u2014 helping highlight and counter stigmatisation and other pressing challenges people living with rare diseases face. &nbsp; While this progress is encouraging, much remains to be done. Improving our understanding and the way we support those living with rare diseases are crucial to countering health inequity and improving the lives of millions across the world.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Have you ever heard of Aarskog Syndrome? How about Abetalipoproteinemia? Probably not. As with all rare diseases, they occur in less than 0.05% of the world population. If we add up the total prevalence for all rare diseases, a very different picture emerges. Globally, an estimated 400-475 million people live with a rare disease, most &hellip; <a href=\"https:\/\/www.healthnews.ie\/rare-diseases\/changing-the-narrative-for-people-living-with-a-rare-disease\/\">Continued<\/a><\/p>\n","protected":false},"author":108,"featured_media":8106,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[5778],"tags":[5779],"class_list":["post-8105","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-diseases","tag-rare-diseases-q1-2023"],"acf":[],"featured_image_src":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210450\/GettyImages-1446542324-Converted-01-600x400.png","featured_image_src_square":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210450\/GettyImages-1446542324-Converted-01-600x600.png","author_info":{"display_name":"Carolina Galbraith Duarte","author_link":"https:\/\/www.healthnews.ie\/author\/carolinagalbraithduarte\/"},"vicky_index_order":"","_links":{"self":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8105","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/users\/108"}],"replies":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/comments?post=8105"}],"version-history":[{"count":4,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8105\/revisions"}],"predecessor-version":[{"id":8154,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8105\/revisions\/8154"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media\/8106"}],"wp:attachment":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media?parent=8105"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/categories?post=8105"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/tags?post=8105"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}